8p12和1q24.2上的常见变异与发生精神分裂症相关

2012-02-17 11:40 来源:丁香园 作者:上海交通大遗传发育与精神神经疾病教育部重点实验室
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Nat Genet 2011 ;43 (12): 1224-7. [IF:36.377]
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.
Shi Y , Li Z , Xu Q , Wang T , Li T , Shen J , Zhang F , Chen J , Zhou G , Ji W , Li B , Xu Y , Liu D , Wang P , Yang P , Liu B , Sun W , Wan C , Qin S , He G , Steinberg S , Cichon S , Werge T , Sigurdsson E , Tosato S , Palotie A , N?then MM , Rietschel M , Ophoff RA , Collier DA , Rujescu D , Clair DS , Stefansson H , Stefansson K , Ji J , Wang Q , Li W , Zheng L , Zhang H , Feng G , He L .
1] Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China. [2] Shanghai genomePilot Institutes for Genomics and Human Health, Shanghai, China. [3] Changning Mental Health Center, Shanghai, China. [4].
上海交通大遗传发育与精神神经疾病教育部重点实验室,上海佰真基因组学与人类健康研究院,上海市长宁区精神卫生中心

Abstract
Schizophrenia is a severe mental disorder affecting ~1% of the world population, with heritability of up to 80%. To identify new common genetic risk factors, we performed a genome-wide association study (GWAS) in the Han Chinese population. The discovery sample set consisted of 3,750 individuals with schizophrenia and 6,468 healthy controls (1,578 cases and 1,592 controls from northern Han Chinese, 1,238 cases and 2,856 controls from central Han Chinese, and 934 cases and 2,020 controls from the southern Han Chinese). We further analyzed the strongest association signals in an additional independent cohort of 4,383 cases and 4,539 controls from the Han Chinese population. Meta-analysis identified common SNPs that associated with schizophrenia with genome-wide significance on 8p12 (rs16887244, P = 1.27 × 10(-10)) and 1q24.2 (rs10489202, P = 9.50 × 10(-9)). Our findings provide new insights into the pathogenesis of schizophrenia.

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