Copy number variation in bipolar disorder.

Mol Psychiatry
Authors
Keywords
Abstract

Large (>100 kb), rare (1% in the population) copy number variants (CNVs) have been shown to confer risk for schizophrenia (SZ), but the findings for bipolar disorder (BD) are less clear. In a new BD sample from the United Kingdom (n=2591), we have examined the occurrence of CNVs and compared this with previously reported samples of 6882 SZ and 8842 control subjects. When combined with previous data, we find evidence for a contribution to BD for three SZ-associated CNV loci: duplications at 1q21.1 (P=0.022), deletions at 3q29 (P=0.03) and duplications at 16p11.2 (P=2.3 × 10(-4)). The latter survives multiple-testing correction for the number of recurrent large CNV loci in the genome. Genes in 20 regions (total of 55 genes) were enriched for rare exonic CNVs among BD cases, but none of these survives correction for multiple testing. Finally, our data provide strong support for the hypothesis of a lesser contribution of very large (>500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4)).

Year of Publication
2016
Journal
Mol Psychiatry
Volume
21
Issue
1
Pages
89-93
Date Published
2016 Jan
ISSN
1476-5578
URL
DOI
10.1038/mp.2014.174
PubMed ID
25560756
PubMed Central ID
PMC5038134
Links
Grant list
090532/Z/09/Z / Wellcome Trust / United Kingdom
5R01ES011740 / ES / NIEHS NIH HHS / United States
U01 HG004446 / HG / NHGRI NIH HHS / United States
R01 CA133996 / CA / NCI NIH HHS / United States
P50 CA097007 / CA / NCI NIH HHS / United States
3P50CA093459 / CA / NCI NIH HHS / United States
MH083094 / MH / NIMH NIH HHS / United States
075491/Z/04/B / Wellcome Trust / United Kingdom
P01 CA089392 / CA / NCI NIH HHS / United States
5P50CA097007 / CA / NCI NIH HHS / United States
R01 ES011740 / ES / NIEHS NIH HHS / United States
X01 HG005274-01 / HG / NHGRI NIH HHS / United States
P50 DA019706 / DA / NIDA NIH HHS / United States
MH 41953 / MH / NIMH NIH HHS / United States
HHSN268200782096C / HG / NHGRI NIH HHS / United States
R01 MH041953 / MH / NIMH NIH HHS / United States
P50 CA084724 / CA / NCI NIH HHS / United States
R01 EY020483 / EY / NEI NIH HHS / United States
078901 / Wellcome Trust / United Kingdom
G0800509 / Medical Research Council / United Kingdom
5R01CA133996 / CA / NCI NIH HHS / United States
085475/B/08/Z / Wellcome Trust / United Kingdom
R01 MH083094 / MH / NIMH NIH HHS / United States
HHSN268200782096C / PHS HHS / United States
P50 CA093459 / CA / NCI NIH HHS / United States
R01 CA100264 / CA / NCI NIH HHS / United States
085475/Z/08/Z / Wellcome Trust / United Kingdom
072894/Z/03/Z / Wellcome Trust / United Kingdom