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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
Open accessAbstract
Background Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.Methods We analysed genome-wide single-nucleotide polymorphism (SNP) data for the five disorders in 33,332 cases and 27,888 controls of European ancestory. To characterise allelic effects on each disorder, we applied a multinomial logistic regression procedure with model selection to identify the best-fitting model of relations between genotype and phenotype. We examined cross-disorder effects of genome-wide significant loci previously identified for bipolar disorder and schizophrenia, and used polygenic risk-score analysis to examine such effects from a broader set of common variants. We undertook pathway analyses to establish the biological associations underlying genetic overlap for the five disorders. We used enrichment analysis of expression quantitative trait loci (eQTL) data to assess whether SNPs with cross-disorder association were enriched for regulatory SNPs in post-mortem brain-tissue samples.Findings SNPs at four loci surpassed the cutoff for genome-wide significance (p<5×10(-8)) in the primary analysis: regions on chromosomes 3p21 and 10q24, and SNPs within two L-type voltage-gated calcium channel subunits, CACNA1C and CACNB2. Model selection analysis supported effects of these loci for several disorders. Loci previously associated with bipolar disorder or schizophrenia had variable diagnostic specificity. Polygenic risk scores showed cross-disorder associations, notably between adult-onset disorders. Pathway analysis supported a role for calcium channel signalling genes for all five disorders. Finally, SNPs with evidence of cross-disorder association were enriched for brain eQTL markers.Interpretation Our findings show that specific SNPs are associated with a range of psychiatric disorders of childhood onset or adult onset. In particular, variation in calcium-channel activity genes seems to have pleiotropic effects on psychopathology. These results provide evidence relevant to the goal of moving beyond descriptive syndromes in psychiatry, and towards a nosology informed by disease cause.Funding National Institute of Mental Health.
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“Interestingly, common genetic factors contributing to depression and autism have been reported (45, 46).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [46]
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“On the basis of data from genomewide association studies (GWAS), approximately 40% of the heritability of ADHD can be attributed to numerous common genetic variants 37 .”
From Attention-deficit/hyperactivity disorder (2015) · cites this paper as [37]
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“Several reports have now confirmed an association between the LTCC CACNA1C gene and neurodevelopmental disorders25,58.”
From Neuronal defects in a human cellular model of 22q11.2 deletion syndrome (2020) · cites this paper as [25]
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“They include unhealthy lifestyle, poorer (self)care adherence, medication side effects, shared pathophysiology including e.g. upregulation of immune-endocrine stress systems and genetic pleiotropy (see 39, 247 for a review that gives more details).”
From Major depressive disorder (2016) · cites this paper as [39]
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“Furthermore, combined GWAS of ADHD, autism spectrum disorders, depression, bipolar disorder and schizophrenia identified four genome-wide significant loci shared by these disorders 37 .”
From Attention-deficit/hyperactivity disorder (2015) · cites this paper as [37]
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“the most significant pathway (GO:0005262, calcium channel activity) from the previous PGC Cross Disorder group SNP-based meta-analysis GWAS3 across the five disorders was found to show nominally significant association in our pathway level meta-analysis across all five disorders (P = 3.13 × 10−3) and also in SCZ, MDD and BIP (P = 8.07 × 10−3).”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [3]
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“Biological links such as single nucleotide polymorphisms (4,5), brain structure (6,7), or functional connectivity (8,9) to specific disorders are limited.”
From Methods and challenges for assessing heterogeneity (2020) · cites this paper as [5]
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In the citing paper
“We suggest that although selfmedication plays a part in the co-occurrence of mental health disorders and substance-related disorders, a shared liability between the disorders likewise plays a role.”
From Childhood Psychiatric Disorders as Risk Factor for Subsequent Substance Abuse: A Meta-Analysis. (2017) · cites this paper as [64]
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“Given the significant genetic overlap between various psychiatric conditions and ASD, heritability likely contributes to these relationships (53–55).”
From Maternal Psychiatric Conditions, Treatment With Selective Serotonin Reuptake Inhibitors, and Neurodevelopmental Disorders (2021) · cites this paper as [54]
In the citing paper
“Recent findings suggest the possibility that not only single, but also aggregate molecular genetic risk factors, linked in particular to alterations in calcium-channel signaling, are shared between autism and four other psychiatric disorders (schizophrenia, attention-deficit hyperactivity disorder, bipolar disorder, and major depressive disorder) (45, 46).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [46]
In the citing paper
“Studies with full genomic analyses of tens or even hundreds of thousands of participants sometimes identify cumulatively meaningful genetic risk factors, but they involve hundreds if not thousands of alleles, the specific functions of which are often not understood (Crespi, 2020; Cross-Disorder Group of the Psychiatric Genomics Consortium, 2013).”
From A process-based approach to psychological diagnosis and treatment:The conceptual and treatment utility of an extended evolutionary meta model (2020) · cites this paper as Cross-Disorder Group of the Psychiatric Genomics Consortium, 2013
In the citing paper
“High levels of psychiatric comorbidity and heterogeneity, fluid symptom trajectories, cross-diagnostic overlap in genetic and neurobiological factors, and the limited efficacy of many psychiatric treatments restrict our understanding of the neurobiology of mental illness based on categorical diagnoses [3–6].”
From Toward a neurocircuit-based taxonomy to guide treatment of obsessive-compulsive disorder (2021) · cites this paper as [4]
In the citing paper
“We note that the most significant pathway identified from the PGC cross-disorder analysis3 (GO:0005262, calcium channel activity) also showed nominally significant enrichment in our analysis, confirming a role for calcium channel activity in these disorders.”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [3]
In the citing paper
“has also shown clear evidence of shared genetic risk at individual loci3”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [3]
In the citing paper
“Stringent and standardized quality control procedures were applied as previously described3.”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [3]
In the citing paper
“However, evidence is increasing that inflammation and specifically cytokine signaling play a role in the pathophysiology of psychiatric disorders.”
From Cytokine Research in Depression: Principles, Challenges, and Open Questions (2019) · cites this paper as [118]
In the citing paper
“There is considerable evidence that genetic risk factors for psychiatric disorders are closely related to cytokines or other functions of the immune system.”
From Cytokine Research in Depression: Principles, Challenges, and Open Questions (2019) · cites this paper as [118]
In the citing paper
“Genome-wide association studies (GWAS) have identified immune pathway genes that significantly contribute to the risk of psychiatric disorders (118).”
From Cytokine Research in Depression: Principles, Challenges, and Open Questions (2019) · cites this paper as [118]
In the citing paper
“Alterations in other genes implicated in E/T coupling have been observed before in ASD individuals and include Ca2+ signaling components such as the voltage-dependent channels Cav1.2 (CACNA1C), Cav1.3 (CACNA1D) and the α-δ auxiliary subunit of L-type voltage-gated Ca2+ channels (CACNA2D3) [102, 103].”
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Citations
Cites
Model selection and multimodel inference: a practical information-theoretic approach.
Guthery, F. S., Burnham, K. P., & Anderson, D. R. (2003) · The Journal of Wildlife Management · doi:10.2307/3802723 · Cited by 41,495
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
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
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
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
Trait-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
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
Population genomics of human gene expression
Stranger, B. E., Nica, A. C., Forrest, M. S., Dimas, A. S., Bird, C., Beazley, C., Ingle, C., Dunning, M., Flicek, P., Koller, D., et al. (2007) · Nature Genetics · doi:10.1038/ng2142 · Cited by 1,153
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
Identification 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
Cited by
Sorted by citations
Items 701–800 of 1,027
DeRosse, P., Nitzburg, G. C., Ikuta, T., Peters, B. D., Malhotra, A. K., & Szeszko, P. R. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu150 · Cited by 60
A polygenic resilience score moderates the genetic risk for schizophrenia
Hess, J., Tylee, D. S., Mattheisen, M., Børglum, A. D., Als, T. D., Grove, J., Werge, T. M., Mortensen, P. B., Mors, O. N., Nordentoft, M., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0463-8 · Cited by 60
Vargason, T., Frye, R. E., McGuinness, D. L., & Hahn, J. (2019) · Autism Research · doi:10.1002/aur.2128 · Cited by 59
Investigating the genetic architecture of general and specific psychopathology in adolescence
Jones, H. J., Heron, J., Hammerton, G., Stochl, J., Jones, P. B., Cannon, M., Smith, G. D., Holmans, P., Lewis, G., Linden, D. E. J., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0204-9 · Cited by 59
Giano, Z. D., Ernst, C., Snider, K., Davis, A., O’Neil, A. M., & Hubach, R. D. (2021) · Child Abuse & Neglect · doi:10.1016/j.chiabu.2021.105335 · Cited by 59
Devanna, P., & Vernes, S. C. (2014) · Scientific Reports · doi:10.1038/srep03994 · Cited by 59
Recent advances in understanding schizophrenia
Haller, C. S., Padmanabhan, J. L., Lizano, P. L., Torous, J. B., & Keshavan, M. S. (2014) · F1000Prime Reports · doi:10.12703/p6-57 · Cited by 65
Zhi, D., Da, L., Liu, M., Cheng, C., Zhang, Y., Wang, X., Li, X., Tian, Z., Yang, Y., He, T., et al. (2017) · G3 Genes Genomes Genetics · doi:10.1534/g3.117.300307 · Cited by 60
Herborg, F., Andreassen, T. F., Berlin, F., Loland, C. J., & Gether, U. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.001753 · Cited by 56
The Genetics of Treatment-Resistant Depression: A Critical Review and Future Perspectives
Fabbri, C., Corponi, F., Souery, D., Kasper, S. F., Montgomery, S., Zohar, J., Rujescu, D., Mendlewicz, J., & Serretti, A. (2018) · The International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyy024 · Cited by 62
Cacna1c haploinsufficiency leads to pro-social 50-kHz ultrasonic communication deficits in rats
Kisko, T. M., Braun, M. D., Michels, S., Witt, S. H., Rietschel, M., Culmsee, C., Schwarting, R. K. W., & Wöhr, M. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.034116 · Cited by 56
Rediscovering the value of families for psychiatric genetics research
Glahn, D. C., Nimgaonkar, V. L., Raventós, H., Rojas, J. C., McIntosh, A. M., Thomson, P. A., Jablensky, A. V., McCarthy, N. S., Charlesworth, J., Blackburn, N. B., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0073-x · Cited by 59
Wilson, K. A., Beck, J. N., Nelson, C. S., Hilsabeck, T. A. U., Promislow, D., Brem, R. B., & Kapahi, P. (2020) · Current Biology · doi:10.1016/j.cub.2020.05.020 · Cited by 63
Psychiatry and developmental psychopathology: Unifying themes and future directions
Beauchaine, T. P., Constantino, J. N., & Hayden, E. P. (2018) · Comprehensive Psychiatry · doi:10.1016/j.comppsych.2018.10.014 · Cited by 60
Kiser, D. P., Rivero, O., & Lesch, K. (2015) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12392 · Cited by 58
the Janssen-CHOP Neuropsychiatric Genomics Working Group, Glessner, J., Li, J., Wang, D., March, M., Lima, L., Desai, A. G., Hadley, D., Kao, C., Gur, R. E., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0494-1 · Cited by 58
Brain annotation toolbox: exploring the functional and genetic associations of neuroimaging results
Liu, Z., Rolls, E. T., Liu, Z., Zhang, K., Yang, M., Du, J., Gong, W., Cheng, W., Dai, F., Wang, H., et al. (2019) · Bioinformatics · doi:10.1093/bioinformatics/btz128 · Cited by 59
Cellular models to study bipolar disorder: A systematic review
Viswanath, B., Jose, S. P., Squassina, A., Thirthalli, J., Purushottam, M., Mukherjee, O., Vladimirov, V. I., Patrinos, G. P., Zompo, M. D., & Jain, S. (2015) · Journal of Affective Disorders · doi:10.1016/j.jad.2015.05.037 · Cited by 58
Loukola, A., Hällfors, J., Korhonen, T., & Kaprio, J. A. (2014) · Current Addiction Reports · doi:10.1007/s40429-013-0006-3 · Cited by 61
Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data
Fiorentino, A., O’Brien, N. L., Locke, D. P., McQuillin, A., Jarram, A., Anjorin, A., Kandaswamy, R., Curtis, D., Blizard, R., & Gurling, H. (2014) · Bipolar Disorders · doi:10.1111/bdi.12203 · Cited by 57
The PHR proteins: intracellular signaling hubs in neuronal development and axon degeneration
Grill, B. J., Murphey, R. K., & Borgen, M. A. (2016) · Neural Development · doi:10.1186/s13064-016-0063-0 · Cited by 57
Genes with High Network Connectivity Are Enriched for Disease Heritability
Kim, S. S., Dai, C. L., Hormozdiari, F., van de Geijn, B., Gazal, S., Park, Y., O’Connor, L. J., Amariuta, T., Loh, P., Finucane, H. K., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.020 · Cited by 55
Genome‐wide analyses of aggressiveness in attention‐deficit hyperactivity disorder
Brevik, E. J., van Donkelaar, M. M. J., Weber, H., Sánchez‐Mora, C., Jacob, C., Rivero, O., Kittel‐Schneider, S., Garcia‐Martínez, I., Aebi, M., van Hulzen, K., et al. (2016) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32434 · Cited by 57
Fullerton, J. M., Koller, D. L., Edenberg, H. J., Foroud, T., Liu, H., Glowinski, A. L., McInnis, M. G., Wilcox, H. C., Frankland, A., Roberts, G. M. P., et al. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32344 · Cited by 59
Braskie, M. N., Omid Kohannim, A., Jahanshad, N., Chiang, M.-C., Marina Barysheva, A., Toga, A. W., Ringman, J. M., Montgomery, G. W., McMahon, K. L., de Zubicaray, G. I., et al. (2013) · NeuroImage · doi:10.1016/j.neuroimage.2013.05.095 · Cited by 60
Hypomethylation of LINE-1 elements in schizophrenia and bipolar disorder
Li, S., Yang, Q., Hou, Y., Jiang, T., Zong, L., Wang, Z., Luo, X., Liang, W., Zhao, H., Ning, Y., et al. (2018) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2018.10.009 · Cited by 57
Ike, K. G. O., de Boer, S. F., Buwalda, B., & Kas, M. J. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.06.030 · Cited by 64
Oakley, B. F. M., Loth, E., & Murphy, D. (2021) · International Review of Psychiatry · doi:10.1080/09540261.2021.1872506 · Cited by 61
The genetic relationships between brain structure and schizophrenia
Stauffer, E.-M., Bethlehem, R. A. I., Dorfschmidt, L., Won, H., Warrier, V., & Bullmore, E. T. (2023) · Nature Communications · doi:10.1038/s41467-023-43567-7 · Cited by 61
Failed drug discovery in psychiatry: time for human genome-guided solutions
Papassotiropoulos, A., & de Quervain, D. J. ‐. (2015) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2015.02.002 · Cited by 59
Juraeva, D., Haenisch, B., Zapatka, M., Frank, J., GROUP Investigators, PSYCH-GEMS SCZ working group, Witt, S. H., Mühleisen, T. W., Treutlein, J., Strohmaier, J., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004345 · Cited by 57
Walder, D. J., Faraone, S. V., Glatt, S. J., Tsuang, M. T., & Seidman, L. J. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.04.015 · Cited by 57
Donaldson, Z. R., François, B. L., Santos, T. L., Almli, L. M., Boldrini, M., Champagne, F. A., Arango, V., Mann, J. J., Stockmeier, C. A., Galfalvy, H., et al. (2016) · Translational Psychiatry · doi:10.1038/tp.2015.226 · Cited by 58
Genomic Approaches to Posttraumatic Stress Disorder: The Psychiatric Genomic Consortium Initiative
Nievergelt, C. M., Ashley‐Koch, A. E., Dalvie, S., Hauser, M. A., Morey, R. A., Smith, A. K., & Uddin, M. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.01.020 · Cited by 60
Andersson, A., Tuvblad, C., Chen, Q., Du Rietz, E., Cortese, S., Kuja‐Halkola, R., & Larsson, H. (2020) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.13233 · Cited by 56
Distal 10q monosomy: New evidence for a neurobehavioral condition?
Plaisancié, J., Bouneau, L., Cancès, C., Garnier, C., Benesteau, J., Leonard, S., Bourrouillou, G., Calvas, P., Vigouroux, A., Julia, S., et al. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.11.002 · Cited by 56
Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders
Karadag, N., Shadrin, A. A., O’Connell, K. S., Hindley, G., Rahman, Z., Parker, N., Bahrami, S., Fominykh, V., Cheng, W., Holen, B., et al. (2023) · Brain · doi:10.1093/brain/awad038 · Cited by 59
Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder
Ramos‐Quiroga, J. A., Sánchez‐Mora, C., Casas, M., Iris Garcia-martinez, A., Bosch, R., Nogueira, M., Montse Corrales, F., Gloria Palomar, A., Vidal, R., Coll-Tané, M., et al. (2013) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.10.022 · Cited by 57
Duarte, R. R. R., Troakes, C., Nolan, M., Srivastava, D. P., Murray, R. M., & Bray, N. J. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32445 · Cited by 57
The Neuropsychiatric Disease-Associated Genecacna1cMediates Survival of Young Hippocampal Neurons
Lee, A. S., Jesús‐Cortés, H. D., Kabir, Z. D., Knobbe, W., Orr, M., Burgdorf, C. E., Huntington, P. J., McDaniel, L., Britt, J. K., Hoffmann, F., et al. (2016) · eNeuro · doi:10.1523/eneuro.0006-16.2016 · Cited by 56
Euesden, J., Matcham, F., Hotopf, M. H., Steer, S. E., Cope, A. P., Lewis, C. M., & Scott, I. C. (2017) · Psychosomatic Medicine · doi:10.1097/psy.0000000000000462 · Cited by 56
Jiang, Y., Duan, M., Chen, X., Zhang, X., Gong, J., Dong, D., Li, H., Yi, Q., Wang, S., Wang, J., et al. (2018) · International Journal of Neural Systems · doi:10.1142/s0129065718500326 · Cited by 56
Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
Avazzadeh, S., McDonagh, K., Reilly, J., Wang, Y., Boomkamp, S. D., McInerney, V., Krawczyk, J., Fitzgerald, J., Feerick, N., O’Sullivan, M., et al. (2019) · Molecular Autism · doi:10.1186/s13229-019-0303-3 · Cited by 57
Price, K. M., Wigg, K. G., Feng, Y., Blokland, K., Wilkinson, M., He, G., Kerr, E. N., Carter, T., Guger, S., Lovett, M. W., et al. (2020) · Genes Brain & Behavior · doi:10.1111/gbb.12648 · Cited by 59
Detecting local genetic correlations with scan statistics
Guo, H., Li, J. J., Lu, Q., & Hou, L. (2021) · Nature Communications · doi:10.1038/s41467-021-22334-6 · Cited by 53
Cowan, C. S. M., Callaghan, B. L., & Richardson, R. (2013) · Behavioral Neuroscience · doi:10.1037/a0034118 · Cited by 55
Wilde, A., Chan, H.-N., Rahman, B., Meiser, B., Mitchell, P. B., Schofield, P. R., & Green, M. J. (2014) · Journal of Affective Disorders · doi:10.1016/j.jad.2014.01.014 · Cited by 55
Calcium and activity-dependent signaling in the developing cerebral cortex
Arjun McKinney, A., Petrova, R., & Panagiotakos, G. (2022) · Development · doi:10.1242/dev.198853 · Cited by 55
An, U., Pazokitoroudi, A., Alvarez, M., Huang, L., Bacanu, S., Schork, A. J., Kendler, K. S., Pajukanta, P., Flint, J., Zaitlen, N., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01558-w · Cited by 60
Guerreiro, R. J., Brás, J., Hardy, J., & Singleton, A. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu203 · Cited by 54
Mood disorders: neurocognitive models
Malhi, G. S., Byrow, Y., Fritz, K., Das, P., Baune, B. T., Porter, R., & Outhred, T. (2015) · Bipolar Disorders · doi:10.1111/bdi.12353 · Cited by 59
Single-neuron and genetic correlates of autistic behavior in macaque
Yoshida, K., Go, Y., Kushima, I., Toyoda, A., Fujiyama, A., Imai, H., Saito, N., Iriki, A., Ozaki, N., & Isoda, M. (2016) · Science Advances · doi:10.1126/sciadv.1600558 · Cited by 55
The morphometric co‐atrophy networking of schizophrenia, autistic and obsessive spectrum disorders
Cauda, F., Nani, A., Costa, T., Palermo, S., Tatu, K., Manuello, J., Duca, S., Fox, P. T., & Keller, R. (2018) · Human Brain Mapping · doi:10.1002/hbm.23952 · Cited by 51
Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders
Calafato, S., Thygesen, J. H., Ranlund, S. M., Zartaloudi, E., Cahn, W., Crespo‐Facorro, B., Díez, Á., Forti, M. D., Hall, M., Iyegbe, C. O., et al. (2018) · The British Journal of Psychiatry · doi:10.1192/bjp.2018.89 · Cited by 55
Creese, B., Vassos, E., Bergh, S., Athanasiu, L., Johar, I., Rongve, A., Medbøen, I. T., Silva, M. V. D., Aakhus, E., Andersen, F., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0592-5 · Cited by 57
Toward the Identification of Peripheral Epigenetic Biomarkers of Schizophrenia
Guidotti, A., Auta, J., Davis, J. M., Dong, E., Gavin, D. P., Grayson, D. R., Sharma, R. P., Smith, R. C., Tueting, P. A., & Zhubi, A. (2014) · Journal of Neurogenetics · doi:10.3109/01677063.2014.892485 · Cited by 54
Carnovale, C., Perrotta, C., Baldelli, S., Cattaneo, D., Montrasio, C., Barbieri, S. S., Pompilio, G., Vantaggiato, C., Clementi, E., & Pozzi, M. (2022) · Cardiovascular Research · doi:10.1093/cvr/cvac110 · Cited by 62
Gutiérrez, M. D. L. I., & Olivar, J.-S. (2015) · The Scientific World JOURNAL · doi:10.1155/2015/127853 · Cited by 67
Women's posttraumatic stress symptoms and autism spectrum disorder in their children
Roberts, A. L., Koenen, K. C., Lyall, K., Ascherio, A., & Weisskopf, M. G. (2014) · Research in Autism · doi:10.1016/j.rasd.2014.02.004 · Cited by 59
Lin, H., Hwang-Gu, S.-L., & Gau, S. S. (2015) · Acta Psychiatrica Scandinavica · doi:10.1111/acps.12393 · Cited by 58
Pathway Analyses Implicate Glial Cells in Schizophrenia
Duncan, L. E., Holmans, P., Lee, P. H., O'Dushlaine, C. T., Kirby, A. W., Smoller, J. W., Öngür, D., & Cohen, B. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0089441 · Cited by 56
Genetics of Complex Traits in Psychiatry
Gelernter, J. E. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.08.005 · Cited by 59
Role of epigenetic factors in the development of mental illness throughout life
Guintivano, J., & Kaminsky, Z. A. (2014) · Neuroscience Research · doi:10.1016/j.neures.2014.08.003 · Cited by 62
Selectivity in Genetic Association with Sub-classified Migraine in Women
Chasman, D. I., Anttila, V., Buring, J. E., Ridker, P. M., Schürks, M., & Kurth, T. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004366 · Cited by 53
Genetics and the Language Sciences
Fisher, S. E., & Vernes, S. C. (2014) · Annual Review of Linguistics · doi:10.1146/annurev-linguist-030514-125024 · Cited by 55
van Winkel, R., & Kuepper, R. (2014) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-032813-153631 · Cited by 56
Wesseling, H., Gottschalk, M. G., & Bahn, S. (2014) · The International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyu015 · Cited by 54
Aicardi, C., Reinsborough, M., & Rose, N. (2017) · Journal of Responsible Innovation · doi:10.1080/23299460.2017.1331101 · Cited by 54
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Abdellaoui, A., Nivard, M. G., Hottenga, J., Fedko, I. O., Verweij, K. J. H., Baselmans, B. M. L., Ehli, E. A., Davies, G. E., Bartels, M., Boomsma, D. I., et al. (2018) · Genes Brain & Behavior · doi:10.1111/gbb.12472 · Cited by 57
Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint
Ikeda, M., Saito, T., Kanazawa, T., & Iwata, N. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0814-y · Cited by 53
Resting-state functional connectivity of salience network in schizophrenia and depression
Huang, H., Chen, C., Rong, B., Wan, Q., Chen, J., Liu, Z., Zhou, Y., Wang, G., & Wang, H. (2022) · Scientific Reports · doi:10.1038/s41598-022-15489-9 · Cited by 53
A Neurodevelopment Approach for a Transitional Model of Early Onset Schizophrenia
Berardis, D. D., Filippis, S. D., Masi, G., Vicari, S., & Zuddas, A. (2021) · Brain Sciences · doi:10.3390/brainsci11020275 · Cited by 57
Anand, A., Koller, D. L., Lawson, W. B., Gershon, E. S., & Nürnberger, J. I. (2015) · Journal of Affective Disorders · doi:10.1016/j.jad.2015.02.029 · Cited by 56
Pocklington, A. J., O’Donovan, M. C., & Owen, M. J. (2014) · European Journal of Neuroscience · doi:10.1111/ejn.12489 · Cited by 57
Nazeen, S., Palmer, N., Berger, B., & Kohane, I. S. (2016) · Genome biology · doi:10.1186/s13059-016-1084-z · Cited by 55
Demkow, U. A., & Wolańczyk, T. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.106 · Cited by 54
Markota, M., Coombes, B. J., Larrabee, B. R., McElroy, S. L., Bond, D. J., Veldić, M., Colby, C. L., Chauhan, M., Barboza, A. B. C., Fuentes, M. E., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0242-3 · Cited by 55
Kikuma, K., Li, X., Perry, S., Li, Q., Goel, P., Chen, C., Kim, D., Stavropoulos, N., & Dickman, D. K. (2019) · Nature Communications · doi:10.1038/s41467-019-10992-6 · Cited by 53
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Baranger, D. A. A., Demers, C. H., Elsayed, N. M., Knodt, A. R., Radtke, S. R., Desmarais, A., Few, L. R., Arpana Agrawal, A., Heath, A. C., Barch, D. M., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.08.029 · Cited by 50
Zhu, D., Yuan, T., Gao, J., Xu, Q., Xue, K., Zhu, W., Tang, J., Liu, F., Wang, J., & Yu, C. (2021) · Human Brain Mapping · doi:10.1002/hbm.25362 · Cited by 54
Thapar, A., & Rutter, M. L. (2015) · Wiley eBooks · doi:10.1002/9781118381953.ch3 · Cited by 56
Cederlöf, M., Bergen, S. E., Långström, N., Larsson, H., Boman, M., Craddock, N., Östberg, P., Lundström, S., Sjölander, A., Nordlind, K., et al. (2015) · Bipolar Disorders · doi:10.1111/bdi.12257 · Cited by 52
Huentelman, M. J., Muppana, L., Corneveaux, J. J., Dinu, V., Pruzin, J. J., Reiman, R., Borish, C. N., De Both, M., Ahmed, A., Todorov, A., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0135076 · Cited by 52
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Kim, K. Y., Scholl, E. S., Liu, X., Shepherd, A. J., Haeseleer, F., & Lee, A. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.02.052 · Cited by 52
Caseras, X., Tansey, K. E., Foley, S. F., & Linden, D. E. J. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.195 · Cited by 51
Molecular neurobiological clues to the pathogenesis of bipolar disorder
Harrison, P. J. (2015) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2015.07.002 · Cited by 53
Topological methods reveal high and low functioning neuro‐phenotypes within fragile X syndrome
Romano, D., Nicolau, M., Quintin, E., Mazaika, P. K., Lightbody, A. A., Hazlett, H. C., Piven, J., Carlsson, G., & Reiss, A. L. (2014) · Human Brain Mapping · doi:10.1002/hbm.22521 · Cited by 52
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Fisher, H. L., McGuffin, P., Boydell, J. E., Fearon, P., Craig, T., Dazzan, P., Morgan, K. D., Doody, G. A., Jones, P. B., Leff, J., et al. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbt201 · Cited by 55
What have we learned from the Psychiatric Genomics Consortium
O’Donovan, M. C. (2015) · World Psychiatry · doi:10.1002/wps.20270 · Cited by 51
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Bennabi, M., Gaman, A., Delorme, R., Boukouaci, W., Manier, C., Scheid, I., Mohammed, N. S., Bengoufa, D., Charron, D. J., Krishnamoorthy, R., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-25974-9 · Cited by 54
Meta-analysis of auditory P50 sensory gating in schizophrenia and bipolar disorder
Atagün, M. İ., Drukker, M., Hall, M., Altun, İ. K., Tatlı, S. Z., Gülöksüz, S., van Os, J., & van Amelsvoort, T. (2020) · Psychiatry Research Neuroimaging · doi:10.1016/j.pscychresns.2020.111078 · Cited by 53
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Searles, V. B., Wang, B., & State, M. W. (2020) · Neuropsychopharmacology · doi:10.1038/s41386-020-0768-y · Cited by 53
Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization
Liu, L., Zeng, P., Xue, F., Yuan, Z., & Zhou, X. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.12.006 · Cited by 52
Sugiyama, S., Ohi, K., Kuramitsu, A., Takai, K., Muto, Y., Taniguchi, T., Kinukawa, T. A., Takeuchi, N., Motomura, E., Nishihara, M., et al. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.644541 · Cited by 55
Meier, S. M., Pavlova, B., Dalsgaard, S., Nordentoft, M., Mors, O., Mortensen, P. B., & Uher, R. (2018) · The British Journal of Psychiatry · doi:10.1192/bjp.2018.111 · Cited by 51
Kalueff, A. V., Stewart, A., Song, C., & Gottesman, I. I. (2015) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2015.03.007 · Cited by 50
Rammos, A., Gonzalez, L. A. N., Weinberger, D. R., Mitchell, K. J., & Nicodemus, K. K. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0410-z · Cited by 52
Lee, C., Kang, E. Y., Gandal, M. J., Eskin, E., & Geschwind, D. H. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0461-9 · Cited by 54
Patterns of cilia gene dysregulations in major psychiatric disorders
Alhassen, W., Chen, S., Vawter, M. P., Robbins, B., Nguyen, H. N., Myint, T., Saito, Y., Schulmann, A., Nauli, S. M., Civelli, O., et al. (2021) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2021.110255 · Cited by 51
Ostacher, M. J., Iosifescu, D. V., Hay, A. C., Blumenthal, S. R., Sklar, P. B., & Perlis, R. H. (2013) · Bipolar Disorders · doi:10.1111/bdi.12143 · Cited by 51
Metadata
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2013-04
- Volume
- 381
- Issue
- 9875
- Pages
- 1371-1379
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- PMC
- PMC3714010
- OpenAlex
- W2139852368
- Cited by
- 3,010
- References
- 52
- Citations by year
- 2026: 70 · 2025: 104 · 2024: 141 · 2023: 117 · 2022: 166 · 2021: 223 · 2020: 249 · 2019: 235 · 2018: 282 · 2017: 317 · 2016: 288 · 2015: 322 · 2014: 303 · 2013: 176
- FWCI
- 240.86
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion)
- DuEPublico (University of Duisburg-Essen) (submittedVersion)
- TSpace (University of Toronto) (submittedVersion, cc-by-nc-nd)
- UNSWorks (UNSW Sydney) (submittedVersion, cc-by-nc-nd)
- Research Publications (Maastricht University) (submittedVersion, cc-by-nc)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- VBN Forskningsportal (Aalborg Universitet) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- VU Research Portal (submittedVersion)
- UNSWorks (University of New South Wales, Sydney, Australia) (submittedVersion, cc-by-nc-nd)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- National Institutes of Health
- National Institute on Alcohol Abuse and Alcoholism (K05AA017688)
- National Institute of Mental Health (R01MH077139, U01MH085520, R01MH100027, R01MH094400, U01MH094421, K99MH101367, MH085520, R01MH083094, K24MH094614, R01MH106595)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Keywords
- mental illness, genetic susceptibility loci, autism spectrum disorder, attention deficit hyperactivity disorder, bipolar disorder, major depressive disorder, schizophrenia, CACNA1C, CACNB2, L-type calcium channels, polygenic risk score, expression quantitative trait loci, pleiotropy, disease classification, childhood-onset disorders
- MeSH terms
- Adult, Attention Deficit Disorder with Hyperactivity, Bipolar Disorder, Child, Child Development Disorders, Pervasive, Depressive Disorder, Major, Major Depressive Disorder, Humans, Schizophrenia, Logistic Models, Age of Onset, Polymorphism, Single Nucleotide, Calcium Channels, L-Type, Genome-Wide Association Study, Genetic Loci
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