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Genetic architectures of psychiatric disorders: the emerging picture and its implications
Open accessAbstract
Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5 years, there has been unprecedented progress on the genetics of many of these conditions. In this Review, we discuss the genetics of nine cardinal psychiatric disorders (namely, Alzheimer's disease, attention-deficit hyperactivity disorder, alcohol dependence, anorexia nervosa, autism spectrum disorder, bipolar disorder, major depressive disorder, nicotine dependence and schizophrenia). Empirical approaches have yielded new hypotheses about aetiology and now provide data on the often debated genetic architectures of these conditions, which have implications for future research strategies. Further study using a balanced portfolio of methods to assess multiple forms of genetic variation is likely to yield many additional new findings.
Overview
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Written from the paper’s full text.
TL;DR
This review synthesizes genetic findings across nine psychiatric disorders and concludes that both rare and common variation contribute across an allelic spectrum, with most disorders being highly polygenic. It argues that larger, balanced genomic studies with statistical rigor are needed to complete the “parts list” and generate biological hypotheses.
Key findings
- For Alzheimer’s disease, 10 loci identified to date account for ~20% of total variation in risk or ~33% of genetic risk, with APOE the major contributor; pathway analyses implicate cholesterol metabolism and innate immune response.
- In schizophrenia, a PGC mega-analysis of 9,394 cases and 12,462 controls identified seven genome-wide significant loci; in bipolar disorder, 7,481 cases and 9,250 controls identified two loci. Common polygenic variation in hundreds of loci contributes to schizophrenia and partially overlaps bipolar disorder, with risk profile scores explaining between a quarter and a third of liability variance.
- In autism spectrum disorder, 5.8% of probands had ≥1 rare de novo structural variant versus 1.7% of unaffected siblings (OR=3.5); exome studies estimate 400–1000 genes, and common variation remains unresolved.
- A major depressive disorder PGC mega-analysis of 9,240 cases and 9,519 controls found no genome-wide significant findings; ADHD shows increased structural variant burden (OR=2.1; OR=5.7 with mental retardation).
Methods
- Narrative review of nine psychiatric disorders (Alzheimer’s disease, ADHD, alcohol dependence, anorexia nervosa, autism spectrum disorder, bipolar disorder, major depressive disorder, nicotine dependence, schizophrenia) selected because they have been intensively studied and have published genome-wide results.
- Synthesizes published genome-wide association, structural variation, linkage, candidate gene, and exome/sequencing studies, emphasizing findings that meet community standards for replication.
- Uses tables, figures, and an allelic spectrum synthesis; no new primary data or meta-analysis are reported.
Limitations
- Stated: many published GWAS are small and underpowered (e.g., ASD, ADHD, AN, ALC); MDD null results likely reflect high heterogeneity and lower heritability; no comprehensive “parts list” exists for any psychiatric disorder; pathway analyses have limitations in pathway definition, significance thresholds, and null expectations.
- Stated: exonic variation studies face background neutral variation and false-positive concerns, requiring large samples and statistical rigor; funding constraints are noted.
- Evident: as a narrative review, it does not conduct a systematic search or quantitative synthesis, so conclusions depend on the selected literature and available published data.
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In the paper
“The proportion of variance explained by the risk profile score increased with relaxation of the significance thresholds.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
What the sources say
- Not checked yetcites [69] Yue, W. H. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature Genet. 43, 1228–1231 (2011). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIn the paper
“As an important test of specificity, the SCZ risk profile was not predictive of case status for any of six non-psychiatric diseases. 177”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
What the sources say
- Not checked yetcites [177] The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661–678 (2007). source
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIn the paper
“In three independent GWAS, SCZ cases had significantly higher risk profile scores than controls.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
What the sources say
- Not checked yetcites [69] Yue, W. H. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature Genet. 43, 1228–1231 (2011). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIn the paper
“A novel association for SCZ is in Ensembl gene RP11-490G2.1 which encodes the primary transcript for miR-137 (MIR137). 62”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [62] Zhong, L., Cherry, T., Bies, C. E., Florence, M. A. & Gerges, N. Z. Neurogranin enhances synaptic strength through its interaction with calmodulin. EMBO J. 28, 3027–3039 (2009). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesThe paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“For SCZ, the strongest association is in the extended MHC region (chr6:27–33 Mb).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesNone of the sources cited for this claim have been checked yet.
In the paper
“Karyotyping studies suggested that on the order of 5% of ASD cases have one of a large number of rare but relatively gross chromosomal abnormalities. 14,78”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
What the sources say
- Not checked yetcites [14] Vorstman, J. A. et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol. Psychiatry 11, 18–28 (2006). source
- Not checked yetcites [78] Stahl, E. A. et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nature Genet. 44, 483–489 (2012). source
Strength:hedged· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesThe paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Combined analysis of the PGC BIP and SCZ samples strengthened the association in the CACNA1C region.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesThe paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Indeed, multiple voltage gated calcium channel subunits were among the top 34 loci followed up in the BIP GWAS.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesNone of the sources cited for this claim have been checked yet.
In the paper
“Unexpectedly, simplex and multiplex ASD pedigrees show relatively similar de novo mutation rates for SV 80,81 and exonic variation. 83–85”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
What the sources say
- Not checked yetcites [80] Betancur, C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 1380, 42–77 (2011). source
- Not checked yetcites [81] Sanders, S. J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863–885 (2011). There have been many excellent studies of CNVs in autism. This is one of the largest and is particularly technically well done. The authors report compelling findings regarding specific CNVs and a greater burden of rare CNVs in cases with ASD. source
- Not checked yetcites [83] Marshall, C. R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477–488 (2008). source
- Not checked yetcites [84] Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242–245 (2012). source
- Not checked yetcites [85] O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246–250 (2012). source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIn the paper
“The PGC GWAS mega-analysis of 9,240 MDD cases and 9,519 controls (replication in 6,783 MDD cases) revealed no findings of genome-wide significance. 108”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Major Depressive Disorder (MDD)
What the sources say
- Not checked yetcites [108] Fowler, C. D., Lu, Q., Johnson, P. M., Marks, M. J. & Kenny, P. J. Habenular α5 nicotinic receptor subunit signalling controls nicotine intake. Nature 471, 597–601 (2011). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes
- It may state two separate claims as one. 49
- Probably not a substantial claim. 20
In the paper
“One report found more rare SV in SCZ cases (odds ratio, OR=1.15), particularly for large deletions (OR=3.6). 48”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Rare variation
What the sources say
- Not checked yetcites [48] International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237–241 (2008). source
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None of the sources cited for this claim have been checked yet.
In the paper
“Finally, estimates from two different methods indicated that the risk profile component for SCZ contributes between a quarter and a third of the overall variance in liability to SCZ, 69,130 a substantial fraction of the 65–81% heritability of SCZ. 179,180”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
What the sources say
- Not checked yetcites [69] Yue, W. H. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature Genet. 43, 1228–1231 (2011). source
- Not checked yetcites [130] Kim, Y., Zerwas, S., Trace, S. E. & Sullivan, P. F. Schizophrenia genetics: where next? Schizophr. Bull. 37, 456–463 (2011). source
- Not checked yetcites [179] Sullivan, P. F., Kendler, K. S. & Neale, M. C. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch. Gen. Psychiatry 60, 1187–1192 (2003). source
- Not checked yetcites [180] Lichtenstein, P. et al. Common genetic influences for schizophrenia and bipolar disorder: a population-based study of 2 million nuclear families. Lancet 373, 234–239 (2009). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“De novo SV may be relevant in BIP (OR=4.8), particularly in cases with earlier ages of onset (OR=6.3). 53”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Rare variation
What the sources say
- Not checked yetcites [53] Malhotra, D. et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 72, 951–963 (2011). source
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“In SCZ, 9,394 cases and 12,462 controls were combined in a single analysis and the top 81 statistically independent loci from that analysis were then tested in over 8,000 cases. The mega-analysis identified seven significant loci (Table 3).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [58] Need, A. C. et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am. J. Hum. Genet. (in the press). In the largest study yet reported, the authors report exome resequencing of 166 cases with schizophrenia enriched for strong family histories of illness and treatment non-response. No definitive associations were identified: this intriguing finding makes the 'many Mendelians' model of this disorder far less tenable.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“Two small exome sequencing studies 56,57 reported rates of putatively functional mutations that exceeded null expectations in SCZ cases (although the rate of de novo point mutations was not elevated in cases and specific genes were not identified).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Rare variation
What the sources say
- Not checked yetcites [56] Girard, S. L. et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nature Genet. 43, 860–863 (2011). source
- Not checked yetcites [57] Xu, B. et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nature Genet. 43, 864–868 (2011). source
Strength:hedged· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“For BIP, the discovery phase consisted of 7,481 cases and 9,250 controls with follow-up of 34 statistically independent loci in around 4,500 cases. Two loci exceeded genome-wide significance (Table 3).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [59] Schizophrenia Psychiatric Genome-Wide Association Study Consortium. Genome-wide association study identifies five new schizophrenia loci. Nature Genet. 43, 969–976 (2011). source
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In the paper
“Large SVs are present in 5–10% of ASD cases, and the number of ASD SVs could total 130–234. 80”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
What the sources say
- Not checked yetcites [80] Betancur, C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 1380, 42–77 (2011). source
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In the paper
“There are now replicated data that vulnerability to SCZ is influenced by common genetic variation in hundreds of different loci, and this vulnerability partially overlaps that for BIP. 69”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [69] Yue, W. H. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature Genet. 43, 1228–1231 (2011). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“Supporting the hypothesis that this association implicates MIR137, predicted targets of miR-137 were significantly enriched for smaller GWAS p-values (p<0.01), and four of the genes that achieved genome-wide significance contain verified miR-137 binding sites. 63”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [63] Bemis, L. T. et al. MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. Cancer Res. 68, 1362–1368 (2008). source
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In the paper
“Intriguingly, there are three instances of ASD cases with de novo deletions of 16p11.2 who also had an affected sibling without this deletion 157–159 along with similar observations for SV in 1q21.1 and 17p12. 158”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
What the sources say
- Not checked yetcites [157] Ott, J. Analysis of Human Genetic Linkage (Johns Hopkins Univ. Press, 1999). source
- Not checked yetcites [158] Weiss, L. A. et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667–675 (2008). source
- Not checked yetcites [159] Szatmari, P. et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet. 39, 319–328 (2007). source
Strength:plain· not yet calibratedn = 3Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“For example, 5.8% of ASD probands had ≥1 rare de novo SV versus 1.7% of their unaffected siblings (OR=3.5), and this difference was more pronounced for SV that intersected genes. 80”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
What the sources say
- Not checked yetcites [80] Betancur, C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 1380, 42–77 (2011). source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“As part of the TAG consortium, 92 we determined that the components of the Fagerstrom Test for Nicotine Dependence (a measure of NIC) had heritabilities ranging from relatively high to near zero with important common environmental effects.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alcohol and Nicotine Dependence (ALC & NIC)
What the sources say
- Not checked yetcites [92] American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 1994).
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Specifically, there are now multiple high-confidence SV (Table 2), rare exonic variants (currently only for ASD, AD, and ALC), and an increasing number of robustly significant and replicated common variants (Table 3).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture
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In the paper
“There are no known Mendelian variants, and power analyses can exclude common variants of modest effect (genotypic relative risk > 1.5 for allele frequencies > 0.1).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“There are multiple SVs that are rare, strong, but non-specific risk factors (Table 2), and 17 common variant associations of subtle effects (Table 3).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
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In the paper
“the 10 loci identified to date account for ~20% of the total variation in risk or ~33% of the risk attributable to genetic effects, with the major contribution being from APOE”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
What the sources say
- Not checked yetcites [33] Harold, D. et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genet. 41, 1088–1093 (2009). source
- Not checked yetcites [34] Lambert, J. C. et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nature Genet. 41, 1094–1099 (2009). source
- Not checked yetcites [35] Hollingworth, P. et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genet. 43, 429–435 (2011). source
- Not checked yetcites [36] Naj, A. C. et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genet. 43, 436–441 (2011). source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“These advances have mostly been via genome-wide association (GWAS) and structural variation (SV) studies”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“None is fully penetrant, and nearly all appear to be non-specific as risk is often increased for SCZ, ASD, developmental delay, mental retardation, epilepsy, somatic dysmorphism, and extremes of body mass and head size.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Rare variation
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“A sign test for consistency between the mega-analysis and follow-up stage was highly significant, implying that many of the 81 top loci include true risk loci but that power was insufficient.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [58] Need, A. C. et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am. J. Hum. Genet. (in the press). In the largest study yet reported, the authors report exome resequencing of 166 cases with schizophrenia enriched for strong family histories of illness and treatment non-response. No definitive associations were identified: this intriguing finding makes the 'many Mendelians' model of this disorder far less tenable.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“For BIP, there are reports of increased 51–53 and similar SV burden in cases versus controls 54,55”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Rare variation
What the sources say
- Not checked yetcites [51] Zhang, D. et al. Singleton deletions throughout the genome increase risk of bipolar disorder. Mol. Psychiatry 14, 376–380 (2009). source
- Not checked yetcites [52] Priebe, L. et al. Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder. Mol. Psychiatry 17, 421–432 (2011). source
- Not checked yetcites [53] Malhotra, D. et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 72, 951–963 (2011). source
- Not checked yetcites [54] Grozeva, D. et al. Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch. Gen. Psychiatry 67, 318–327 (2010). source
- Not checked yetcites [55] McQuillin, A. et al. Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample. Eur. J. Hum. Genet. 19, 588–592 (2011). source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“This implies that sample sizes are insufficient and that additional loci can be discovered in larger samples.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“This suggests the discovery sample was insufficiently large to identify many true risk loci at even nominal levels of significance: adding more SNPs contributed more genetic signal than noise.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
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In the paper
“Remarkably, the same set of markers also discriminated BIP cases from controls indicating substantial genetic contributions between SCZ and BIP.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alzheimer’s Disease (AD) > Common variation
What the sources say
- Not checked yetcites [69] Yue, W. H. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature Genet. 43, 1228–1231 (2011). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The evidence for association is compelling but high gene density and exceptionally high linkage disequilibrium complicate the identification of specific sequence variation.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
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In the paper
“Indeed, ASD mutations with very high penetrance are exceptional (i.e., Rett syndrome mutations in MECP2 and CDKL5), and Mendelian diseases enriched for ASD have far less than complete penetrance (e.g., Fragile X syndrome and tuberous sclerosis). 78”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
What the sources say
- Not checked yetcites [78] Stahl, E. A. et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nature Genet. 44, 483–489 (2012). source
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In the paper
“In addition, ASD has been noted as a comorbid feature of >100 single gene, Mendelian medical genetic syndromes, 79 although the penetrance and confidence of the clinical associations are variable.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
What the sources say
- Not checked yetcites [79] Folstein, S. E. & Rosen-Sheidley, B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nature Rev. Genet. 2, 943–955 (2001). source
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None of the sources cited for this claim have been checked yet.
In the paper
“Further, results from SGENE+ 60 implicate NRGN (neurogranin) which may act as a calcium sensor. 61”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [60] Psychiatric GWAS Consortium Bipolar Disorder Working Group. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nature Genet. 43, 977–983 (2011). These two papers are the largest and most comprehensive GWAS mega-analyses conducted for psychotic disorders. source
- Not checked yetcites [61] Stefansson, H. et al. Common variants conferring risk of schizophrenia. Nature 460, 744–747 (2009). source
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In the paper
“Similarly, a sign test between the discovery and follow-up results was highly significant, again suggesting insufficient power. 59”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [59] Schizophrenia Psychiatric Genome-Wide Association Study Consortium. Genome-wide association study identifies five new schizophrenia loci. Nature Genet. 43, 969–976 (2011). source
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In the paper
“miR-137 is a key regulator of neuronal development with roles in neurogenesis and maturation 64,65 and is highly expressed at synapses in the cortex and hippocampus. 66”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Psychotic Disorders (BIP and SCZ) > Common variation
What the sources say
- Not checked yetcites [64] Kwon, E., Wang, W. & Tsai, L. H. Validation of schizophrenia-associated genes CSMD1, C10orf26, CACNA1C and TCF4 as miR-137 targets. Mol. Psychiatry 20 Dec 2011 (doi:10.1038/mp.2011.170). source
- Not checked yetcites [65] Szulwach, K. E. et al. Cross talk between microRNA and epigenetic regulation in adult neurogenesis. J. Cell Biol. 189, 127–141 (2010). source
- Not checked yetcites [66] Smrt, R. D. et al. MicroRNA miR-137 regulates neuronal maturation by targeting ubiquitin ligase mind bomb-1. Stem Cells 28, 1060–1070 (2010). source
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In the paper
“Case-control studies are simpler, and most biases can be surmounted by careful study procedures, but cannot delineate rare inherited from de novo variation.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
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In the paper
“Intriguingly, all three studies noted an increased rate of de novo exonic mutations in older parents (with the mutations generally being of paternal origin), 83–85”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
What the sources say
- Not checked yetcites [83] Marshall, C. R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477–488 (2008). source
- Not checked yetcites [84] Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242–245 (2012). source
- Not checked yetcites [85] O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246–250 (2012). source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“A focus on multiplex pedigrees has led to the identification of specific mutations underlying hundreds of Mendelian disorders (including ASD and AD).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✗ Based: failsProbably not a substantial claim. The paper’s conclusions may not depend on it. The paper may give no reason why it holds.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“The 16p11.2 SV associated with ASD and SCZ has been termed a “mirror image” SV since the deletion and duplication are associated with increased and reduced head and body size.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“However, it is difficult to understand the clinical features of ASD and SCZ as mirror images and, more importantly, ASD is associated with both 16p11.2 deletions and duplications.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Rare variation
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In the paper
“Simplex-based ascertainment is tailored to evaluate de novo mutations, and predicated on a model in which disorder with dramatically reduced fecundity and a proven role of de novo SV might be explicable as a series of Mendelian disorders attributable to recent high-penetrance mutations in any of a large number of genes.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
Strength:hedged· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“It has also been pointed out that de novo events must confer risk in multiplex families, as such mutations increase the chance that an individual is affected and increase risk in that person’s offspring.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Introduction
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None of the sources cited for this claim have been checked yet.
In the paper
“For ALC, the published GWAS are small and no large-scale meta-analysis has been conducted. 93–97”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alcohol and Nicotine Dependence (ALC & NIC)
What the sources say
- Not checked yetcites [93] Tobacco and Genetics Consortium. Meta-analyses of genome-wide association studies implicate multiple loci for smoking behavior. Nature Genet. 42, 441–447 (2010). source
- Not checked yetcites [94] Edenberg, H. J. et al. Genome-wide association study of alcohol dependence implicates a region on chromosome 11. Alcohol. Clin. Exp. Res. 34, 840–852 (2010). source
- Not checked yetcites [95] Bierut, L. J. et al. A genome-wide association study of alcohol dependence. Proc. Natl Acad. Sci. USA 107, 5082–5087 (2010). source
- Not checked yetcites [96] Kendler, K. S. et al. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. Alcohol. Clin. Exp. Res. 35, 963–975 (2011). source
- Not checked yetcites [97] Heath, A. C. et al. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. Biol. Psychiatry 70, 513–518 (2011). source
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In the paper
“Additional support for our recommendation for more GWAS is provided by Voineagu et al. who identified a gene expression module that had attenuated expression in post-mortem brain samples of individuals with ASD and which also had enrichment for GWAS signals. 90”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Autism Spectrum Disorders (ASD) > Common variation
What the sources say
- Not checked yetcites [90] Ma, D. et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann. Hum. Genet. 73, 263–273 (2009). source
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In the paper
“Associations to this region have also bee reported for lung cancer. 105,106”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Alcohol and Nicotine Dependence (ALC & NIC)
What the sources say
- Not checked yetcites [105] Saccone, N. L. et al. Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet. 6, e1001053 (2010). source
- Not checked yetcites [106] Thorgeirsson, T. E. et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452, 638–642 (2008). source
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In the paper
“A provocative finding from 2003 was that risk for MDD might be influenced by a gene-environment interaction with genetic variation near the serotonin transporter. 110”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Major Depressive Disorder (MDD)
What the sources say
- Not checked yetcites [110] Rucker, J. J. et al. Genome-wide association analysis of copy number variation in recurrent depressive disorder. Mol. Psychiatry 1 Nov 2011 (doi:10.1038/mp.2011.144). source
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“These null results are intriguing as almost all other published GWAS with N>11,000 for any disease has found at least one genome-wide significant finding.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Major Depressive Disorder (MDD)
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In the paper
“The most likely reasons for these results are particularly high heterogeneity of MDD and insufficient power arising from its lower heritability. 108”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Major Depressive Disorder (MDD)
What the sources say
- Not checked yetcites [108] Fowler, C. D., Lu, Q., Johnson, P. M., Marks, M. J. & Kenny, P. J. Habenular α5 nicotinic receptor subunit signalling controls nicotine intake. Nature 471, 597–601 (2011). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“There is an important component arising from common variation in hundreds of different loci (Box 3), and larger sample sizes are likely to convert many of these to genome-wide significance.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The data support multiple novel biological hypotheses (for example, cholesterol metabolism and the innate immune response in AD, a network involving miR-137 for SCZ, calcium signaling for BIP and SCZ, and chromatin remodeling for ASD) and reinforce previous hypotheses such as synaptic biology for SCZ and ASD).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“For disorders with sufficient data (AD, BIP, and SCZ), the results are consistent with an allelic spectrum and an etiological role for both rare and common variation.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Although we were initially agnostic 123 we now believe that the data support both positions.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
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In the paper
“Common variant SNP effects have been estimated to explain large proportions of the phenotypic heritability for a wide range of diseases: BIP and SCZ; 69,130 T1DM, T2DM, Crohn’s disease, rheumatoid arthritis, celiac disease, and coronary artery disease; 70,77 and continuous traits (height, intelligence, and body mass). 70,131,132”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
What the sources say
- Not checked yetcites [69] Yue, W. H. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature Genet. 43, 1228–1231 (2011). source
- Not checked yetcites [130] Kim, Y., Zerwas, S., Trace, S. E. & Sullivan, P. F. Schizophrenia genetics: where next? Schizophr. Bull. 37, 456–463 (2011). source
- Not checked yetcites [70] International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748–752 (2009). source
- Not checked yetcites [77] Speliotes, E. K. et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genet. 42, 937–948 (2010). source
- Not checked yetcites [131] Lee, S. et al. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nature Genet. 44, 247–250 (2012). This is a provocative paper showing that liability to SCZ is substantial and distributed among genetic variants across the common variant spectrum and across the genome. The authors suggest that the so-called missing heritability problem is hidden and that the architecture of SCZ is polygenic. source
- Not checked yetcites [132] Davies, G. et al. Genome-wide association studies establish that human intelligence is highly heritable and polygenic. Mol. Psychiatry 16, 996–1005 (2011). source
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“There are statistical hints that ADHD and MDD might also be polygenic.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > What is the Emerging Picture > Genetic architecture
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✗ Based: failsProbably not a substantial claim. The paper’s conclusions may not depend on it. The paper may give no reason why it holds.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“the knowledge base in psychiatric genetics is vastly greater than five years ago, and the rate of change is unprecedented in the history of the field.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Why these successes matter
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“For example, SV testing is often part of the clinical evaluation of ASD”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Why these successes matter
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None of the sources cited for this claim have been checked yet.
In the paper
“It is possible to provide realistic estimates of power and to predict the number of new associations for each increment in sample size 128,129,140”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
What the sources say
- Not checked yetcites [128] Orozco, G., Barrett, J. C. & Zeggini, E. Synthetic associations in the context of genome-wide association scan signals. Hum. Mol. Genet. 19, R137–R144 (2010). source
- Not checked yetcites [129] Lander, E. S. Initial impact of the sequencing of the human genome. Nature 470, 187–197 (2011). source
- Not checked yetcites [140] Miller, G. Is pharma running out of brainy ideas? Science 329, 502–504 (2010). source
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The genomic search space is large but finite and so, in theory, elucidating the parts list for a psychiatric disorder could be achieved.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
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- Rests on an assumption: The genomic search space is large but finite.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“A comprehensive portrait of genetic architecture does not now exist for any psychiatric disorder.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
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In the paper
“there have been multiple meta-analysis 146,147 consortia in psychiatric genetics, of which the Psychiatric Genomics Consortium (http://pgc.unc.edu) is the largest and most encompassing. 123,148,149”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
What the sources say
- Not checked yetcites [123] McClellan, J. & King, M. C. Genomic analysis of mental illness: a changing landscape. JAMA 303, 2523–2524 (2010). source
- Not checked yetcites [148] de Bakker, P. I., Neale, B. M. & Daly, M. J. Meta-analysis of genome-wide association studies. Cold Spring Harb. Protoc. 2010, pdb.top81 (2010). source
- Not checked yetcites [149] Psychiatric GWAS Consortium. Genome-wide association studies: history, rationale, and prospects for psychiatric disorders. Am. J. Psychiatry 166, 540–546 (2009). source
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In the paper
“For example, the lifetime cost per person with SCZ is on the order of $US 1.4 million: 145”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
What the sources say
- Not checked yetcites [145] Lamarre-Cliche, M., Castilloux, A. M. & LeLorier, J. Association between the burden of disease and research funding by the Medical Research Council of Canada and the National Institutes of Health. A cross-sectional study. Clin. Invest. Med. 24, 83–89 (2001).
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The successful study of any type of genetic variation in complex biomedical diseases requires very large sample sizes as a means to cut the Gordian knot posed by genetic architecture, etiological complexity, and phenotypic uncertainty.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Genomic technologies routinely posit 105–108 hypotheses, and false positives are a serious concern.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
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None of the sources cited for this claim have been checked yet.
In the paper
“Humans carry a huge pool of phenotypically-neutral background variation that adds noise to genetic analyses (for example, each person has ~100 loss-of-function variants, most of which are rare in a population), 152,153”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
What the sources say
- Not checked yetcites [152] Easton, D. F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087–1093 (2007). source
- Not checked yetcites [153] MacArthur, D. G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823–828 (2012). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Indeed, a GWAS co-authorship network graph demonstrates the high connectedness of researchers in the field (Figure S2).”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
Strength:boosted· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“The published results for ASD 83–85 and unpublished data on SCZ suggest these issues will be important and underscore the need for sequencing studies to have the same emphasis on statistical rigor and large sample sizes that has enabled GWAS to realize success for multiple psychiatric disorders. 154”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Implications for strategy
What the sources say
- Not checked yetcites [83] Marshall, C. R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477–488 (2008). source
- Not checked yetcites [84] Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242–245 (2012). source
- Not checked yetcites [85] O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246–250 (2012). source
- Not checked yetcites [154] Durbin, R. M. et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010). source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim. It may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“the genetics knowledge base has advanced considerably during the past five years, and results to date contain clear indications that further study will yield greater insight.”
§ Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications > Implications and Future Directions > Psychiatric genetics is not “post-genomic”
Load-bearingStrength:boosted· not yet calibratedTests✓ Asserted: passes✗ Checkable: fails✓ Load-bearing: passes✗ Based: failsProbably not a substantial claim. It may be too vague to check against evidence. The paper may give no reason why it holds. It may state two separate claims as one.
The authors state this as an assumption.
Pathway analysis is based on the assumption that risk variants for a disease will converge on sets of genes whose functions are more closely related to each other than to random sets of genes.
“Pathway analysis is based on the assumption that risk variants for a disease will converge on sets of genes whose functions are more closely related to each other than to random sets of genes.”
The authors state this as an assumption.
For rare variants in complex diseases, pathway analysis will by necessity be based on sets of genes whose involvement in disease is unclear (e.g., genes with a single observed de novo exonic deleterious mutation).
“For rare variants in complex diseases, based on recent empirical results for ASD, it is probably reasonable to assume that pathway analysis will by necessity be based on sets of genes whose involvement in disease is unclear (e.g., genes with a single observed de novo exonic deleterious mutation). 83,84”
The paper relies on this without support.
Common variation plays a clear role in other psychiatric disorders.
“given that detailed studies of rare variation currently explain a fraction of risk and that common variation plays a clear role in other psychiatric disorders.”
The paper relies on this without support.
The genomic search space is large but finite.
“The genomic search space is large but finite and so, in theory, elucidating the parts list for a psychiatric disorder could be achieved.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“The etiology of ASD is also primarily genetic (Sullivan et al., 2012)”
From Parallel social information processing circuits are differentially impacted in autism (2020) · cites this paper as Sullivan et al., 2012
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Conflicting conclusions about whether ASD risk can be entirely due to rare variants
MajorThe paper says the available evidence cannot establish or rule out a role for common genetic variation in ASD, but later says an architecture consisting entirely of rare variants is inconsistent with the ASD data. The latter conclusion rules out what the former says remains possible.
“It is currently not possible to discern or dismiss a role for common genetic variation in risk for ASD.”
“Hypothesized genetic architectures consisting entirely of rare variants are inconsistent with the data for AD, ASD, BIP, and SCZ (as well as for multiple other complex biomedical diseases).”
Citations
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Self-citationInfluence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
Caspi, A., Sugden, K., Moffitt, T. E., Taylor, A., Craig, I. W., Harrington, H., McClay, J., Mill, J., Martin, J., Braithwaite, A., et al. (2003) · Science · doi:10.1126/science.1083968 · Cited by 8,120
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,633
Network medicine: a network-based approach to human disease
Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2918 · Cited by 5,034
KEGG for integration and interpretation of large-scale molecular data sets
Kanehisa, M., Goto, S., Sato, Y., Furumichi, M., & Tanabe, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr988 · Cited by 4,848
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Common SNPs explain a large proportion of the heritability for human height
Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., Madden, P. A., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2010) · Nature Genetics · doi:10.1038/ng.608 · Cited by 4,446
Strittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S., & Roses, A. D. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1977 · Cited by 4,268
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
Self-citationAssociation analyses of 249,796 individuals reveal 18 new loci associated with body mass index
MAGIC, Speliotes, E. K., on behalf of Procardis Consortium, Willer, C. J., Berndt, S. I., Monda, K. L., Thorleifsson, G., Jackson, A. U., Allen, H. L., Lindgren, C. M., et al. (2010) · Nature Genetics · doi:10.1038/ng.686 · Cited by 2,912
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891
Arcelus, J., Mitchell, A. J., Wales, J., & Nielsen, S. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.74 · Cited by 2,864
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Franke, A., McGovern, D. P. B., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., Lees, C. W., Balschun, T., Lee, J., Roberts, R., et al. (2010) · Nature Genetics · doi:10.1038/ng.717 · Cited by 2,520
Self-citationVisscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
Schizophrenia as a Complex Trait: Evidence From a Meta-analysis of Twin Studies
Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.12.1187 · Cited by 2,356
Self-citationGenome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
Lichtenstein, P., Yip, B. H., Björk, C., Pawitan, Y., Cannon, T. D., Sullivan, P. F., & Hultman, C. M. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60072-6 · Cited by 2,125
Self-citationDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
Grand challenges in global mental health
Collins, P. Y., Patel, V., Joestl, S. S., March, D., Insel, T. R., Daar, A. S., Bordin, I. A., Costello, E. J., Durkin, M., Fairburn, C., et al. (2011) · Nature · doi:10.1038/475027a · Cited by 2,043
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013
Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.803 · Cited by 1,997
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature · doi:10.1038/nature09410 · Cited by 1,945
Genome-wide association study identifies five new schizophrenia loci
The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) · Nature Genetics · doi:10.1038/ng.940 · Cited by 1,919
Self-citationNaj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
The MAGIC investigators, Voight, B. F., The GIANT Consortium, Scott, L. J., Steinthorsdottir, V., Morris, A. P., Dina, C., Welch, R. P., Zeggini, E., Huth, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.609 · Cited by 1,761
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
Self-citationMissing heritability and strategies for finding the underlying causes of complex disease
Eichler, E. E., Flint, J., Gibson, G. C., Kong, A., Leal, S. M., Moore, J. H., & Nadeau, J. H. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2809 · Cited by 1,728
Analysis of Human Genetic Linkage.
Edwards, A. W. F., & Ott, J. (1992) · Biometrics · doi:10.2307/2532370 · Cited by 1,691
Common variants conferring risk of schizophrenia
†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Self-citationRisch, N., Herrell, R., Lehner, T., Liang, K.-Y., Eaves, L., Hoh, J., Griem, A., Kovacs, M., Ott, J., & Merikangas, K. R. (2009) · JAMA · doi:10.1001/jama.2009.878 · Cited by 1,655
Ten Years of Pathway Analysis: Current Approaches and Outstanding Challenges
Khatri, P., Sirota, M., & Butte, A. J. (2012) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002375 · Cited by 1,635
Genome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
Thorgeirsson, T. E., Geller, F., Sulem, P., Rafnar, T., Wiste, A., Magnusson, K. P., Manolescu, A., Thorleifsson, G., Stefansson, H., Ingason, A., et al. (2008) · Nature · doi:10.1038/nature06846 · Cited by 1,523
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402
Replicating genotype–phenotype associations
NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature · doi:10.1038/447655a · Cited by 1,352
Self-citationA copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351
Psychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.943 · Cited by 1,344
Self-citationTrait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E., & Cox, N. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000888 · Cited by 1,292
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,284
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263
Wellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.209 · Cited by 1,237
Self-citationGenome-wide Analysis of Genetic Loci Associated With Alzheimer Disease
Seshadri, S. (2010) · JAMA · doi:10.1001/jama.2010.574 · Cited by 1,219
Common variants on chromosome 6p22.1 are associated with schizophrenia
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P., Whittemore, A. S., Mowry, B. J., et al. (2009) · Nature · doi:10.1038/nature08192 · Cited by 1,154
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136
A mega-analysis of genome-wide association studies for major depressive disorder
Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, Ripke, S., Wray, N. R., Lewis, C. M., Hamilton, S. P., Weissman, M. M., Breen, G., Byrne, E. M., Blackwood, D. H. R., Boomsma, D. I., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.21 · Cited by 1,120
Self-citationA high-resolution map of human evolutionary constraint using 29 mammals
Broad Institute Sequencing Platform and Whole Genome Assembly Team, Lindblad-Toh, K., Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Genome Institute at Washington University, Garber, M., Zuk, O., Lin, M. F., Parker, B. J., Washietl, S., Kheradpour, P., et al. (2011) · Nature · doi:10.1038/nature10530 · Cited by 1,108
Genome-wide meta-analyses identify multiple loci associated with smoking behavior
The Tobacco and Genetics Consortium (2010) · Nature Genetics · doi:10.1038/ng.571 · Cited by 1,098
Self-citationIdentification of loci associated with schizophrenia by genome-wide association and follow-up
Molecular Genetics of Schizophrenia Collaboration, O'Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.201 · Cited by 1,070
Self-citationInitial impact of the sequencing of the human genome
Lander, E. S. (2011) · Nature · doi:10.1038/nature09792 · Cited by 1,044
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989
Drozdzowska, B., Pluskiewicz, W., Halaba, Z. P., Misiołek, H., & Beck, B. R. (2005) · Cited by 984
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
Rare Variants Create Synthetic Genome-Wide Associations
Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H., & Goldstein, D. B. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000294 · Cited by 857
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854
Kirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.154 · Cited by 844
Self-citationStrong association of de novo copy number mutations with sporadic schizophrenia
Xu, B., Roos, J. L., Levy, S., van Rensburg, E. J., Gogos, J. A., & Karayiorgou, M. (2008) · Nature Genetics · doi:10.1038/ng.162 · Cited by 813
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Pe'er, I., Yelensky, R., Altshuler, D., & Daly, M. J. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20303 · Cited by 783
Self-citationGenetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771
Mendelian Inheritance in Man and Its Online Version, OMIM
McKusick, V. A. (2007) · The American Journal of Human Genetics · doi:10.1086/514346 · Cited by 755
Analysis of Human Genetic Linkage
Ott, J. (1999) · doi:10.56021/9780801861406 · Cited by 754
Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses
Bertram, L., & Tanzi, R. E. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2494 · Cited by 747
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731
Whole-genome association study of bipolar disorder
Sklar, P. B., Smoller, J. W., Fan, J., Ferreira, M. A. R., Perlis, R. H., Chambert, K., Nimgaonkar, V. L., McQueen, M. B., Faraone, S. V., Kirby, A. W., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002151 · Cited by 705
Self-citationSequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior
The ENGAGE Consortium, Thorgeirsson, T. E., Gudbjartsson, D. F., Surakka, I., Vink, J. M., Amin, N., Geller, F., Sulem, P., Rafnar, T., Esko, T., et al. (2010) · Nature Genetics · doi:10.1038/ng.573 · Cited by 689
Genome-wide association study identifies five new breast cancer susceptibility loci
The Breast Cancer Susceptibility Collaboration (UK), Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., et al. (2010) · Nature Genetics · doi:10.1038/ng.586 · Cited by 687
Habenular α5 nicotinic receptor subunit signalling controls nicotine intake
Fowler, C. D., Lu, Q., Johnson, P. M., Marks, M. J., & Kenny, P. J. (2011) · Nature · doi:10.1038/nature09797 · Cited by 663
Prioritizing GWAS Results: A Review of Statistical Methods and Recommendations for Their Application
Cantor, R. M., Lange, K. L., & Sinsheimer, J. S. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.11.017 · Cited by 638
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625
A genome-wide linkage and association scan reveals novel loci for autism
The Gene Discovery Project of Johns Hopkins & the Autism Consortium, Weiss, L. A., & Arking, D. E. (2009) · Nature · doi:10.1038/nature08490 · Cited by 619
Meta-analysis and imputation refines the association of 15q25 with smoking quantity
The Wellcome Trust Case Control Consortium, Liu, J. Z., Tozzi, F., Waterworth, D. M., Pillai, S. G., Muglia, P., Middleton, L., Berrettini, W., Knouff, C. W., Yuan, X., et al. (2010) · Nature Genetics · doi:10.1038/ng.572 · Cited by 614
The Economic Burden of Schizophrenia in the United States in 2002
Wu, E. Q., Birnbaum, H. G., Shi, L., BALL, D. E., Kessler, R. C., Moulis, M., & Aggarwal, J. (2005) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.v66n0906 · Cited by 614
Mi, H., Dong, Q., Muruganujan, A., Gaudet, P., Lewis, S., & Thomas, P. D. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp1019 · Cited by 609
Genome-wide association studies establish that human intelligence is highly heritable and polygenic
Davies, G., Tenesa, A., Payton, A., Yang, J., Harris, S. E., Liewald, D., Ke, X., Le Hellard, S., Christoforou, A., Luciano, M., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.85 · Cited by 608
Jones, L., Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., Pocklington, A., Abraham, R., Hollingworth, P., Sims, R., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013950 · Cited by 606
Self-citationA genome-wide scan for common alleles affecting risk for autism
Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq307 · Cited by 593
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ), Lee, S. H., The International Schizophrenia Consortium (ISC), The Molecular Genetics of Schizophrenia Collaboration (MGS), DeCandia, T. R., Ripke, S., Yang, J., Sullivan, P. F., Goddard, M. E., Keller, M. C., et al. (2012) · Nature Genetics · doi:10.1038/ng.1108 · Cited by 579
Self-citationGene×environment interactions at the serotonin transporter locus
Munafò, M. R., Durrant, C., Lewis, G., & Flint, J. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.06.009 · Cited by 576
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572
Self-citationGenomewide association studies--illuminating biologic pathways.
Hirschhorn, J. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0808934 · Cited by 545
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
de Bakker, P. I. W., Ferreira, M. A. R., Jia, X., Neale, B. M., Raychaudhuri, S., & Voight, B. F. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn288 · Cited by 531
Wellcome Trust Case Control Consortium, Green, E. K., Grozeva, D., Jones, I., Jones, L., Kirov, G., Caesar, S., Gordon-Smith, K., Fraser, C., Forty, L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.49 · Cited by 526
Self-citationThe Relation between Funding by the National Institutes of Health and the Burden of Disease
Gross, C. P., Anderson, G. F., & Powe, N. R. (1999) · New England Journal of Medicine · doi:10.1056/nejm199906173402406 · Cited by 509
Cross talk between microRNA and epigenetic regulation in adult neurogenesis
Szulwach, K. E., Li, X., Smrt, R. D., Li, Y., Luo, Y., Lin, L., Santistevan, N. J., Li, W., Zhao, X., & Jin, P. (2010) · Journal of Cell Biology · doi:10.1083/jcb.200908151 · Cited by 493
The Burden of Mental Disorders
Eaton, W. W., Martins, S. S., Nestadt, G., Bienvenu, O. J., Clarke, D. E., & Alexandre, P. K. (2008) · Epidemiologic Reviews · doi:10.1093/epirev/mxn011 · Cited by 481
Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Xu, B., Roos, J. L., Dexheimer, P. J., Boone, B. E., Plummer, B., Levy, S., Gogos, J. A., & Karayiorgou, M. (2011) · Nature Genetics · doi:10.1038/ng.902 · Cited by 473
Disruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature · doi:10.1038/nature10406 · Cited by 462
A genome-wide association study of alcohol dependence
Bierut, L. J., Agrawal, A., Bucholz, K. K., Doheny, K. F., Laurie, C., Pugh, E., Fisher, S., Fox, L., Howells, W., Bertelsen, S., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911109107 · Cited by 457
Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders
Psychiatric GWAS Consortium Coordinating Committee (2009) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.08091354 · Cited by 450
Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder
Neale, B. M., Medland, S. E., Ripke, S., Asherson, P., Franke, B., Lesch, K.-P., Faraone, S. V., Nguyen, T. T., Schäfer, H., Holmans, P., et al. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.06.008 · Cited by 450
Self-citationIncreased exonic de novo mutation rate in individuals with schizophrenia
Girard, S. L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. (2011) · Nature Genetics · doi:10.1038/ng.886 · Cited by 438
Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., Constortium, I. I. B. D. G., Cotsapas, C., & Daly, M. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001273 · Cited by 438
Self-citationLevinson, D. F., Duan, J., Oh, S., Wang, K., Sanders, A. R., Shi, J., Zhang, N., Mowry, B. J., Olincy, A., Amin, F., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.10060876 · Cited by 434
Raychaudhuri, S., Plenge, R. M., Rossin, E. J., Ng, A., Purcell, S., Sklar, P. B., Scolnick, E. M., Xavier, R. J., Altshuler, D., & Daly, M. J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000534 · Cited by 427
Self-citationUher, R., & McGuffin, P. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.123 · Cited by 424
MicroRNA miR-137 Regulates Neuronal Maturation by Targeting Ubiquitin Ligase Mind Bomb-1
Smrt, R. D., Szulwach, K. E., Pfeiffer, R. L., Li, X., Guo, W., Pathania, M., Teng, Z.-Q., Luo, Y., Peng, J., Bordey, A., et al. (2010) · Stem Cells · doi:10.1002/stem.431 · Cited by 404
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 398
Saccone, N. L., Culverhouse, R. C., Schwantes-An, T.-H., Cannon, D. S., Chen, X., Cichon, S., Giegling, I., Han, S., Han, Y., Keskitalo-Vuokko, K., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001053 · Cited by 395
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Diabetes Genetics Replication and Meta-analysis Consortium, Stahl, E. A., Myocardial Infarction Genetics Consortium, Wegmann, D., Trynka, G., Gutierrez-Achury, J., Do, R., Voight, B. F., Kraft, P., Chen, R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2232 · Cited by 388
Treusch, S., Hamamichi, S., Goodman, J. L., Matlack, K. E. S., Chung, C. Y., Baru, V., Shulman, J. M., Parrado, A., Bevis, B. J., Valastyan, J. S., et al. (2011) · Science · doi:10.1126/science.1213210 · Cited by 379
Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder
Holmans, P., Green, E. K., Pahwa, J. S., Ferreira, M. A. R., Purcell, S. M., Sklar, P., Owen, M. J., O'Donovan, M. C., & Craddock, N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.011 · Cited by 378
Self-citationExome sequencing and the genetic basis of complex traits
Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., et al. (2012) · Nature Genetics · doi:10.1038/ng.2303 · Cited by 372
Self-citationThe COGENT Consortium, Houlston, R. S., The CORGI Consortium, The COIN Collaborative Group, The COINB Collaborative Group, Cheadle, J., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., et al. (2010) · Nature Genetics · doi:10.1038/ng.670 · Cited by 360
Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.-H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., et al. (2011) · Nature · doi:10.1038/nature09884 · Cited by 337
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.11.007 · Cited by 325
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.004 · Cited by 324
Pottier, C., Hannequin, D., Coutant, S., Rovelet-Lecrux, A., Wallon, D., Rousseau, S., Legallic, S., Paquet, C., Bombois, S., Pariente, J., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.15 · Cited by 305
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics · doi:10.1038/ng.2283 · Cited by 299
Self-citationGenome‐Wide Association Study of Alcohol Dependence Implicates a Region on Chromosome 11
Edenberg, H. J., Koller, D. L., Xuei, X., Wetherill, L., McClintick, J. N., Almasy, L., Bierut, L. J., Bucholz, K. K., Goate, A., Aliev, F., et al. (2010) · Alcoholism: Clinical and Experimental Research · doi:10.1111/j.1530-0277.2010.01156.x · Cited by 293
Williams, N. M., Franke, B., Mick, E., Anney, R. J. L., Freitag, C. M., Gill, M., Thapar, A., O'Donovan, M. C., Owen, M. J., Holmans, P., et al. (2012) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2011.11060822 · Cited by 290
Self-citationYue, W.-H., Wang, H.-F., Sun, L.-D., Tang, F.-L., Liu, Z.-H., Zhang, H.-X., Li, W.-Q., Zhang, Y.-L., Zhang, Y., Ma, C.-C., et al. (2011) · Nature Genetics · doi:10.1038/ng.979 · Cited by 289
Cichon, S., Mühleisen, T. W., Degenhardt, F. A., Mattheisen, M., Miró, X., Strohmaier, J., Steffens, M., Meesters, C., Herms, S., Weingarten, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.01.017 · Cited by 286
Self-citationThe Psychiatric GWAS Consortium: Big Science Comes to Psychiatry
Sullivan, P. F. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.003 · Cited by 285
Self-citationIs Pharma Running Out of Brainy Ideas?
Miller, G. (2010) · Science · doi:10.1126/science.329.5991.502 · Cited by 284
Meta-analysis of 32 genome-wide linkage studies of schizophrenia
Ng, M., Levinson, D. F., Faraone, S. V., Suarez, B. K., DeLisi, L. E., Arinami, T., Riley, B. P., Paunio, T., Pulver, A. E., Irmansyah, et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.135 · Cited by 283
Self-citationWilliams, H. J., Norton, N., Dwyer, S., Moskvina, V., Nikolov, I., Carroll, L. S., Georgieva, L., Williams, N. M., Morris, D. W., Quinn, E. M., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.36 · Cited by 279
Self-citationMicroRNA-137 Targets Microphthalmia-Associated Transcription Factor in Melanoma Cell Lines
Bemis, L., Chen, R., Amato, C. M., Classen, E. H., Robinson, S. E., Coffey, D. G., Erickson, P. F., Shellman, Y. G., & Robinson, W. A. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-2912 · Cited by 277
Schumann, G., Coin, L. J., Lourdusamy, A., Charoen, P., Berger, K. H., Stacey, D., Desrivières, S., Aliev, F. A., Khan, A. A., Amin, N., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1017288108 · Cited by 264
Molecular and Comparative Genetics of Mental Retardation
Inlow, J. K., & Restifo, L. L. (2004) · Genetics · doi:10.1534/genetics.166.2.835 · Cited by 264
NIH Disease Funding Levels and Burden of Disease
Gillum, L. A., Gouveia, C., Dorsey, E. R., Pletcher, M., Mathers, C. D., McCulloch, C. E., & Johnston, S. C. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016837 · Cited by 248
McQueen, M. B., Devlin, B., Faraone, S. V., Nimgaonkar, V. L., Sklar, P., Smoller, J. W., Abou Jamra, R., Albus, M., Bacanu, S.-A., Baron, M., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491603 · Cited by 245
Self-citationCommon variants on 8p12 and 1q24.2 confer risk of schizophrenia
Shi, Y., Li, Z., Xu, Q., Wang, T., Li, T., Shen, J., Zhang, F., Chen, J., Zhou, G., Ji, W., et al. (2011) · Nature Genetics · doi:10.1038/ng.980 · Cited by 239
The effects of attention-deficit/hyperactivity disorder on employment and household income.
(2006) · PubMed Central · Cited by 238
INRICH: interval-based enrichment analysis for genome-wide association studies
Lee, P. H., O'Dushlaine, C., Thomas, B., & Purcell, S. M. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts191 · Cited by 238
Brouwers, N., Van Cauwenberghe, C., Engelborghs, S., Lambert, J.-C., Bettens, K., Le Bastard, N., Pasquier, F., Montoya, A. G., Peeters, K., Mattheijssens, M., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.24 · Cited by 227
A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1
Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., Hoffman, J. D., Slifer, S. H., Hedges, D. J., Cukier, H. N., et al. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00523.x · Cited by 221
Bierut, L. J., Goate, A. M., Breslau, N., Johnson, E. O., Bertelsen, S., Fox, L., Agrawal, A., Bucholz, K. K., Grucza, R., Hesselbrock, V, et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.124 · Cited by 218
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa
Wang, K., Zhang, H., Bloss, C. S., Duvvuri, V, Kaye, W., Schork, N. J., Berrettini, W., Hakonarson, H., & the Price Foundation Collaborative Group (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.107 · Cited by 212
A framework for interpreting genome-wide association studies of psychiatric disorders
The Psychiatric GWAS Consortium Steering Committee (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.126 · Cited by 212
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
Steinberg, S., de Jong, S., Andreassen, O. A., Werge, T. M., Børglum, A. D., Mors, O. N., Mortensen, P. B., Gústafsson, Ó., Costas, J., Pietiläinen, O. P. H., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr325 · Cited by 210
Self-citationThe Gene Ontology: enhancements for 2011
The Gene Ontology Consortium (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr1028 · Cited by 204
Investigating the Contribution of Common Genetic Variants to the Risk and Pathogenesis of ADHD
Stergiakouli, E., Hamshere, M. L., Holmans, P., Langley, K., Zaharieva, I. T., Genetics, D., Hawi, Z., Kent, L., Gill, M., Williams, N. M., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2011.11040551 · Cited by 202
Self-citationWillemsen, M. H., Vallès, A., Kirkels, L. A. M. H., Mastebroek, M., Olde Loohuis, N., Kos, A., Wissink-Lindhout, W. M., de Brouwer, A. P. M., Nillesen, W. M., Pfundt, R., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100294 · Cited by 202
Validation of schizophrenia-associated genes CSMD1, C10orf26, CACNA1C and TCF4 as miR-137 targets
Kwon, E., Wang, W., & Tsai, L.-H. (2013) · Molecular Psychiatry · doi:10.1038/mp.2011.170 · Cited by 200
Truong, T., Hung, R. J., Amos, C. I., Wu, X., Bickeböller, H., Rosenberger, A., Sauter, W., Illig, T., Wichmann, H.-E., Risch, A., et al. (2010) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/djq178 · Cited by 194
Heath, A. C., Whitfield, J. B., Martin, N. G., Pergadia, M. L., Goate, A. M., Lind, P. A., McEvoy, B. P., Schrage, A. J., Grant, J. D., Chou, Y.-L., et al. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.02.028 · Cited by 193
Grozeva, D. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.25 · Cited by 192
Meta-Analysis of Genome-Wide Linkage Scans of Attention Deficit Hyperactivity Disorder
Zhou, K., Dempfle, A., Arcos-Burgos, M., Bakker, S., Banaschewski, T., Biederman, J., Buitelaar, J., Castellanos, F., Doyle, A., Ebstein, R. P., et al. (2008) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30878 · Cited by 191
Waters, K. M., Stram, D. O., Hassanein, M. T., Le Marchand, L., Wilkens, L. R., Maskarinec, G., Monroe, K. R., Kolonel, L. N., Altshuler, D., Henderson, B. E., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001078 · Cited by 191
Prediction and Prevention of Psychosis in Youth at Clinical High Risk
Addington, J., & Heinssen, R. (2012) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-032511-143146 · Cited by 189
Penetrance for copy number variants associated with schizophrenia
Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., & Lewis, C. M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq259 · Cited by 182
McMahon, F. J., Akula, N., Schulze, T. G., Detera‐Wadleigh, S. D., Steele, C. J. M., Wendland, J. R., Breuer, R., Strohmaier, J., Rietschel, M., Muglia, P., et al. (2010) · Nature Genetics · doi:10.1038/ng.523 · Cited by 180
Massively parallel sequencing and rare disease
Ng, S. B., Nickerson, D. A., Bamshad, M. J., & Shendure, J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq390 · Cited by 177
Genome‐wide significant association between alcohol dependence and a variant in the ADH gene cluster
Frank, J., Cichon, S., Treutlein, J., Ridinger, M., Mattheisen, M., Hoffmann, P., Herms, S., Wodarz, N., Soyka, M., Zill, P., et al. (2012) · Addiction Biology · doi:10.1111/j.1369-1600.2011.00395.x · Cited by 176
Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results
Wray, N. R., Purcell, S. M., & Visscher, P. M. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1000579 · Cited by 176
Chiurazzi, P., Schwartz, C. E., Gécz, J., & Neri, G. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201994 · Cited by 165
Neurogranin enhances synaptic strength through its interaction with calmodulin
Zhong, L., Cherry, T., Bies, C. E., Florence, M. A., & Gerges, N. Z. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.236 · Cited by 158
Guilt beyond a reasonable doubt
Altshuler, D., & Daly, M. (2007) · Nature Genetics · doi:10.1038/ng0707-813 · Cited by 151
Self-citationSingleton deletions throughout the genome increase risk of bipolar disorder
Zhang, D., Cheng, L., Qian, Y., Alliey-Rodriguez, N., Kelsoe, J. R., Greenwood, T., Nievergelt, C., Barrett, T. B., McKinney, R., Schork, N., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.144 · Cited by 148
Takeuchi, F., Isono, M., Nabika, T., Katsuya, T., Sugiyama, T., Yamaguchi, S., Kobayashi, S., Ogihara, T., Yamori, Y., Fujioka, A., et al. (2011) · Circulation Journal · doi:10.1253/circj.cj-10-0774 · Cited by 146
Yang, Q., Wu, H., Guo, C., & Fox, C. S. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20497 · Cited by 142
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders
Trikalinos, T. A., Karvouni, A., Zintzaras, E., Ylisaukko‐oja, T., Peltonen, L., Järvelä, I. E., & Ioannidis, J. P. A. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001750 · Cited by 141
Vorstman, J. A. S., Staal, W., Hochstenbach, P. F. R., Franke, L., van Daalen, E., & van Engeland, H. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001781 · Cited by 134
Raychaudhuri, S., Korn, J. M., McCarroll, S. A., The International Schizophrenia Consortium, Altshuler, D., Sklar, P., Purcell, S., & Daly, M. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001097 · Cited by 131
Self-citationLife stress, 5-HTTLPR and mental disorder: findings from a 30-year longitudinal study
Fergusson, D. M., Horwood, L. J., Miller, A. L., & Kennedy, M. A. (2011) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.110.085993 · Cited by 130
Suggestion of Roles for Both Common and Rare Risk Variants in Genome-wide Studies of Schizophrenia
Owen, M. J., Craddock, N. J., & O’Donovan, M. C. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.69 · Cited by 127
Self-citationHow to Use an Article About Genetic Association
Attia, J., Ioannidis, J. P. A., Thakkinstian, A., McEvoy, M., Scott, R. J., Minelli, C., Thompson, J. R., Infante‐Rivard, C., & Guyatt, G. H. (2009) · JAMA · doi:10.1001/jama.2008.901 · Cited by 124
Kendler, K. S., Kalsi, G., Holmans, P. A., Sanders, A. R., Aggen, S. H., Dick, D. M., Aliev, F., Shi, J., Levinson, D. F., & Gejman, P. V. (2011) · Alcoholism: Clinical and Experimental Research · doi:10.1111/j.1530-0277.2010.01427.x · Cited by 121
Ruano, D., Abecasis, G. R., Pourcain, B. S., Lips, E. H., Cornelisse, L. N., de Jong, A. P. H., Evans, D. M., Smith, G. D., Timpson, N. J., Smit, A. B., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.12.006 · Cited by 120
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men
Baik, I., Cho, N. H., Kim, S. H., Han, B.-G., & Shin, C. (2011) · The American Journal of Clinical Nutrition · doi:10.3945/ajcn.110.001776 · Cited by 119
Rietschel, M., Mattheisen, M., Degenhardt, F., GROUP Investigators, Genetic Risk and Outcome in Psychosis (GROUP Investigators), Kahn, R. S., LINSZEN, D. H., van Os, J., Wiersma, D., Bruggeman, R., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.80 · Cited by 119
Self-citationAnderson, C. A., Soranzo, N., Zeggini, E., & Barrett, J. C. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1000580 · Cited by 114
Genome-wide association studies: a primer
Corvin, A. P., Craddock, N. J., & Sullivan, P. F. (2009) · Psychological Medicine · doi:10.1017/s0033291709991723 · Cited by 111
Self-citationGuerreiro, R. J., Lohmann, E., Kinsella, E., Brás, J. M., Luu, N., Gurunlian, N., Dursun, B., Bilgic, B., Santana, I., Hanagasi, H., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.10.009 · Cited by 107
Narrowing the Boundaries of the Genetic Architecture of Schizophrenia
Wray, N. R., & Visscher, P. M. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp137 · Cited by 106
Effectiveness of food fortification in the United States: the case of pellagra
Park, Y. K., Sempos, C. T., Barton, C. N., Vanderveen, J. E., & Yetley, E. A. D. (2000) · American Journal of Public Health · doi:10.2105/ajph.90.5.727 · Cited by 105
Schizophrenia Genetics: Where Next?
Kim, Y., Zerwas, S., Trace, S. E., & Sullivan, P. F. (2011) · Schizophrenia Bulletin · doi:10.1093/schbul/sbr031 · Cited by 101
Self-citationHypothesis-driven candidate genes for schizophrenia compared to genome-wide association results
Collins, A. L., Kim, Y., Sklar, P. B., O’Donovan, M. C., & Sullivan, P. F. (2011) · Psychological Medicine · doi:10.1017/s0033291711001607 · Cited by 100
Self-citationYang, J., Wray, N. R., & Visscher, P. M. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20456 · Cited by 99
McNaughton, D., Knight, W. D., Guerreiro, R. J., Ryan, N. S., Lowe, J., Poulter, M., Nicholl, D. J., Hardy, J., Révész, T., Lowe, J. S., et al. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.10.010 · Cited by 95
Puzzling over schizophrenia: Schizophrenia as a pathway disease
Sullivan, P. F. (2012) · Nature Medicine · doi:10.1038/nm.2670 · Cited by 92
Self-citationNeed, A. C., McEvoy, J. P., Gennarelli, M., Heinzen, E. L., Ge, D., Maia, J. M., Shianna, K. V., He, M., Cirulli, E. T., Gumbs, C. E., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.018 · Cited by 92
Karg, K., Burmeister, M., Shedden, K., & Sen, S. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.189 · Cited by 87
Priebe, L., Degenhardt, F. A., Herms, S., Haenisch, B., Mattheisen, M., Nieratschker, V, Weingarten, M., Witt, S., Breuer, R., Paul, T., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.8 · Cited by 84
G2Cdb: the Genes to Cognition database
Croning, M. D. R., Marshall, M. C., McLaren, P., Armstrong, J. D., & Grant, S. G. N. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn700 · Cited by 73
Genomic Analysis of Mental Illness: A Changing Landscape
McClellan, J., & King, M.-C. (2010) · JAMA · doi:10.1001/jama.2010.869 · Cited by 63
Synthetic associations in the context of genome-wide association scan signals
Orozco, G., Barrett, J. C., & Zeggini, E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq368 · Cited by 61
Sullivan, P., & on behalf of 96 Psychiatric Genetics Investigators* (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.94 · Cited by 59
Self-citationGenome-wide association analysis of copy number variation in recurrent depressive disorder
Rucker, J. J. H., Breen, G., Pinto, D., Pedroso, I., Lewis, C. M., Cohen-Woods, S., Uher, R., Schosser, A., Rivera, M., Aitchison, K. J., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2011.144 · Cited by 51
Meta-Analysis of Genome-Wide Association Studies
de Bakker, P. I. W., Neale, B. M., & Daly, M. J. (2010) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top81 · Cited by 48
Self-citationMcQuillin, A., Bass, N., Anjorin, A., Lawrence, J., Kandaswamy, R., Lydall, G., Moran, J., Sklar, P., Purcell, S., & Gurling, H. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.221 · Cited by 47
Alzheimer's disease genetics: lessons to improve disease modelling
Guerreiro, R. J., & Hardy, J. (2011) · Biochemical Society Transactions · doi:10.1042/bst0390910 · Cited by 33
Aoun, S., Pennebaker, D., & Pascal, R. (2004) · Australian and New Zealand Journal of Public Health · doi:10.1111/j.1467-842x.2004.tb00637.x · Cited by 31
Flagged first, then by citations
2 of the 209 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- World Health Organization. The Global Burden of Disease: 2004 Update (WHO Press, 2008).
Cited by
Sorted by citations
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577
The Lancet Commission on global mental health and sustainable development
Patel, V., Saxena, S., Lund, C., Thornicroft, G., Baingana, F., Bolton, P., Chisholm, D., Collins, P. Y., Cooper, J. L., Eaton, J., et al. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31612-x · Cited by 3,692
“67,114,115 Environmental stressors could affect mental health by influencing gene expression (eg, by turning genes on or off).”
BackgroundGenetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) · Nature Genetics · doi:10.1038/ng.2711 · Cited by 2,263
Self-citationOwen, M. J., Sawa, A., & Mortensen, P. B. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01121-6 · Cited by 1,870
De novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617
Self-citation
Metadata
- Authors
- Sullivan, P. F., Daly, M. J., & O'Donovan, M.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- Harvard University (US)
- Corresponding author
- Sullivan, Patrick F.
- Venue
- Nature Reviews Genetics
- Published
- 2012-07-10
- Volume
- 13
- Issue
- 8
- Pages
- 537-551
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC4110909
- OpenAlex
- W2017826413
- Semantic Scholar
- 0daf00932712fc6331a171911cea4681ab7a668e
- Cited by
- 1,177
- References
- 209
- Citations by year
- 2026: 35 · 2025: 56 · 2024: 37 · 2023: 41 · 2022: 58 · 2021: 68 · 2020: 84 · 2019: 91 · 2018: 103 · 2017: 107 · 2016: 107 · 2015: 127 · 2014: 150 · 2013: 90 · 2012: 21
- FWCI
- 15.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- Wellcome Trust
- National Institutes of Health
- Medical Research Council
- National Institute of Mental Health (R01MH077139, U01MH085520, MH085520, MH077139)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- mental illness, genetic architecture, genome-wide association study, structural variants, exome sequencing, Alzheimer's disease, attention deficit hyperactivity disorder, alcoholism, anorexia nervosa, autism spectrum disorder, bipolar disorder, major depressive disorder, nicotine dependence, schizophrenia, genetic aetiology
- MeSH terms
- Alcoholism, Alzheimer Disease, Anorexia Nervosa, Attention Deficit Disorder with Hyperactivity, Mental Disorders, Bipolar Disorder, Child, Child Development Disorders, Pervasive, Major Depressive Disorder, Humans, Models, Genetic, Schizophrenia, Tobacco Use Disorder
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
A language model drew the claims from the paper on 2026-10-09, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-10-09 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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