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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
Open accessAbstract
Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%. We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of schizophrenia. First, we implicate the major histocompatibility complex. Second, we provide molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia involving thousands of common alleles of very small effect. We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases.
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In the citing paper
“recent genetic studies have indicated a complex polygenic architecture involving hundreds of genetic variants that individually confer a minimal increase on the overall risk of developing the disorder (Purcell et al., 2009)”
From DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia (2021) · cites this paper as Purcell et al., 2009
In the citing paper
“Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk alleles.”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [5]
In the citing paper
“Much of the between-individual variation in risk is genetic, involving large numbers of common alleles,5 rare copy number variants (CNVs)6, and rare coding variants (RCVs)7,8.”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [5]
In the citing paper
“we evaluated the effectiveness of the primary technical and genomic quality control parameters on the genome-wide inflation of test statistics using the lambda GC (median)5 and as necessary made the QC parameters more stringent until this value was between 1.0 and 1.4 (before inclusion of principal components as covariates) and/or between 1.0 and 1.15 after inclusion of PCA covariates.”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [5]
In the citing paper
“The development of robust polygenic scores for several common diseases has been catalysed by more precise per-variant effect estimates from larger GWAS datasets, improved algorithms for combining information across millions of single-nucleotide polymorphisms, and large-scale biobanks that support score validation69,146,147.”
From A brief history of human disease genetics (2020) · cites this paper as [146]
In the citing paper
“Additive effects of genetic risk markers were documented in schizophrenia (Purcell et al., 2009) and in ADHD (Jain et al., 2011).”
From From early markers to neuro-developmental mechanisms of autism (2014) · cites this paper as Purcell et al., 2009
In the citing paper
“Undoubtedly, the phenotypic expression of rare high-penetrance alleles is modulated by other genetic factors, including rare variants, as well as common (polygenic) variation (Purcell et al., 2009) or epigenetic regulation (Hirasawa and Feil, 2010).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Purcell et al., 2009
In the citing paper
“and only about a third of that recently explained for schizophrenia (30)”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [30]
In the citing paper
“SCZ is truly complex and appears to result from a myriad of genetic variants exerting small effects on disease risk4,5, conforming closely to a classical polygenic model.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [4]
In the citing paper
“SCZ is truly complex and appears to result from a myriad of genetic variants exerting small effects on disease risk4,5, conforming closely to a classical polygenic model.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [4]
In the citing paper
“Similarly in humans, by taking all nominally significant SNPs rather than just the GWAS significant ones, it is possible to capture much more of the genetic variance than is explained by the highly significant loci73,74”
From Rare and common variants: twenty arguments (2012) · cites this paper as [73]
In the citing paper
“Indeed, the large-scale impact of large numbers of common variants may be a general feature of human complex traits 70–77”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [70]
In the citing paper
“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). 70–77”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [70]
In the citing 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”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [70]
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Metadata
- Authors
- The International Schizophrenia Consortium
- Venue
- Nature
- Published
- 2009-07-01
- Volume
- 460
- Issue
- 7256
- Pages
- 748-752
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3912837
- OpenAlex
- W2098597355
- Cited by
- 4,821
- References
- 31
- Citations by year
- 2026: 84 · 2025: 129 · 2024: 190 · 2023: 235 · 2022: 246 · 2021: 291 · 2020: 354 · 2019: 337 · 2018: 297 · 2017: 339 · 2016: 365 · 2015: 328 · 2014: 316 · 2013: 330 · 2012: 348
- FWCI
- 197.43
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion)
- Funders
- Massachusetts Institute of Technology
- Wellcome Trust (066717)
- Broad Institute
- National Institute of Mental Health (R01MH077139, P50MH066392, R01MH071681, R01MH062137, R01MH074027, R01MH080403)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Keywords
- schizophrenia, bipolar disorder, polygenic risk, common genetic variants, major histocompatibility complex, genetic susceptibility, immunity, heritability, psychiatric genetics
- MeSH terms
- Alleles, Bipolar Disorder, Europe, Female, Gene Frequency, Humans, Major Histocompatibility Complex, Male, Models, Genetic, Schizophrenia, Genetic Variation, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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