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8p12 和 1q24.2 上的常见变异赋予精神分裂症风险。

Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.

机构信息

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, China.

出版信息

Nat Genet. 2011 Oct 30;43(12):1224-7. doi: 10.1038/ng.980.

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.

摘要

精神分裂症是一种严重的精神障碍,影响全球约 1%的人口,遗传率高达 80%。为了确定新的常见遗传风险因素,我们在汉族人群中进行了全基因组关联研究(GWAS)。发现样本集由 3750 名精神分裂症患者和 6468 名健康对照者组成(1578 例和 1592 例来自北方汉族,1238 例和 2856 例来自中部汉族,934 例和 2020 例来自南方汉族)。我们进一步在汉族人群的另一个独立队列中对最强关联信号进行了分析,该队列包括 4383 例病例和 4539 例对照。荟萃分析确定了常见的 SNP,这些 SNP 与 8p12 上的精神分裂症相关,具有全基因组显著性(rs16887244,P = 1.27×10(-10)) 和 1q24.2(rs10489202,P = 9.50×10(-9))。我们的研究结果为精神分裂症的发病机制提供了新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d65/3773910/2fa36b463dde/emss-54329-f0001.jpg

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