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Open AccessJournal ArticleDOI

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

Shaun Purcell, +81 more
- 06 Aug 2009 - 
- Vol. 460, Iss: 7256, pp 748-752
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TLDR
The extent to which common genetic variation underlies the risk of schizophrenia is shown, using two analytic approaches, and the major histocompatibility complex is implicate, which is shown to involve thousands of common alleles of very small effect.
Abstract
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%(1,2). 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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Citations
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Journal ArticleDOI

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke, +354 more
- 24 Jul 2014 - 
TL;DR: Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
Journal ArticleDOI

GCTA: a tool for genome-wide complex trait analysis.

TL;DR: The GCTA software is a versatile tool to estimate and partition complex trait variation with large GWAS data sets and focuses on the function of estimating the variance explained by all the SNPs on the X chromosome and testing the hypotheses of dosage compensation.
Journal ArticleDOI

Common SNPs explain a large proportion of the heritability for human height

TL;DR: Evidence is provided that the remaining heritability is due to incomplete linkage disequilibrium between causal variants and genotyped SNPs, exacerbated by causal variants having lower minor allele frequency than the SNPs explored to date.
References
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Journal ArticleDOI

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Paul Burton, +195 more
- 07 Jun 2007 - 
TL;DR: This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest.
Journal ArticleDOI

XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance.

TL;DR: In this paper, it was shown that the variance of a human measurement from its mean follows the Normal Law of Errors, and that the variability may be measured by the standard deviation corresponding to the square root of the mean square error.
Journal ArticleDOI

The Wellcome Trust Case Control Consortium, U.K.

Kaspar Mossman
- 01 Jan 2008 - 
TL;DR: This article reports that the magazine's award for Research Leader of the Year was given to the Wellcome Trust Case Control Consortium which conducted a huge genetic study to look at the genetic causes for various diseases.
Journal ArticleDOI

Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies.

TL;DR: Despite evidence of heterogeneity across studies, meta-analytic results from 12 published twin studies of schizophrenia are consistent with a view of schizophrenia as a complex trait that results from genetic and environmental etiological influences.
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Biological insights from 108 schizophrenia-associated genetic loci

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