期刊
MOLECULAR PSYCHIATRY
卷 19, 期 1, 页码 108-114出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/mp.2012.157
关键词
association; bipolar disorder; cross-disorder; schizophrenia; 16p11.2
资金
- National Institute of Mental Health [N01 MH900001, MH074027, 1U24MH081810, R01 MH078075]
- Eli Lilly and Company
- Pritzker Neuropsychiatric Disorders Research Fund L.L.C.
- Massachusetts General Hospital in Boston, MA (NIMH) [2N01MH080001-001]
- Wellcome Trust [076113, 085475, 075491/Z/04, 085475/B/08/Z, 085475/Z/08/Z]
- Medical Research Council [G0601030]
- Anthony P Monaco, PI, University of Oxford
- National Genome Research Network of the German Federal Ministry of Education and Research (BMBF) [01GS08144, 01GS08147]
- Centre of Excellence for Complex Disease Genetics of the Academy of Finland [213506, 129680]
- Biocentrum Helsinki Foundation
- Research Program for Molecular Medicine, Faculty of Medicine, University of Helsinki
- Stanley Medical Research Institute
- Danish Council for Strategic Research [2101-07-0059]
- H Lundbeck A/S
- the Research Council of Norway [163070/V50]
- Danish Medical Research Council
- South-East Norway Health Authority [2004-123]
- Medical Research Council
- Ministerio de Sanidad y Consumo, Spain [PI081522]
- Xunta de Galicia [08CSA005208PR]
- Swedish Research Council
- Wellcome Trust Case Control Consortium 2
- Max Planck Society
- Saarland University [T6 03 10 00-45]
- Netherlands Foundation for Brain Research (Hersenstichting) [2008(1).34]
- [2006-037761]
- [PIAP-GA-2008-218251]
- [HEALTH-F2-2009-223423]
- [HEALTH-F4-2009-242257]
- MRC [G1100583, G0801418, G0601030, G0800509] Funding Source: UKRI
- British Heart Foundation [PG/13/66/30442] Funding Source: researchfish
- Lundbeck Foundation [R155-2014-1724] Funding Source: researchfish
- Medical Research Council [G1100583, MR/L010305/1, G0801418, G0801418B, G9817803B, G0800509] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10268] Funding Source: researchfish
- NATIONAL INSTITUTE OF MENTAL HEALTH [Z01MH900001, U24MH081810, R01MH083094, R01MH078075, N01MH080001, R01MH074027] Funding Source: NIH RePORTER
Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio = 1.08; P = 6.6 x 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P = 0.0039 in the public GIANT consortium data set; P = 0.00047 in 22 651 additional Icelanders).
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