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Scientific article
English

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

Published inHuman molecular genetics, vol. 25, no. 15, p. 3383-3394
Publication date2016
Abstract

Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage meta-analysis of >9 million genetic variants in 9,784 bipolar disorder patients and 30,471 controls, the largest GWAS of BD to date. In this study, to increase power we used ∼2,000 lithium-treated cases with a long-term diagnosis of BD from the Consortium on Lithium Genetics, excess controls, and analytic methods optimized for markers on the X-chromosome. In addition to four known loci, results revealed genome-wide significant associations at two novel loci: an intergenic region on 9p21.3 (rs12553324, P = 5.87 × 10 (-) (9); odds ratio (OR) = 1.12) and markers within ERBB2 (rs2517959, P = 4.53 × 10 (-) (9); OR = 1.13). No significant X-chromosome associations were detected and X-linked markers explained very little BD heritability. The results add to a growing list of common autosomal variants involved in BD and illustrate the power of comparing well-characterized cases to an excess of controls in GWAS.

Citation (ISO format)
HOU, Liping et al. Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder. In: Human molecular genetics, 2016, vol. 25, n° 15, p. 3383–3394. doi: 10.1093/hmg/ddw181
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ISSN of the journal0964-6906
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