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常见的主要组织相容性复合体区域和 TCF4 基因变异与汉族人群的精神分裂症显著相关。

Common variants in major histocompatibility complex region and TCF4 gene are significantly associated with schizophrenia in Han Chinese.

机构信息

Bio-X Center, Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders Ministry of Education, Shanghai Jiao Tong University, Shanghai, People's Republic of China.

出版信息

Biol Psychiatry. 2010 Oct 1;68(7):671-3. doi: 10.1016/j.biopsych.2010.06.014. Epub 2010 Jul 31.

Abstract

BACKGROUND

Schizophrenia is a complex major psychiatric disorder affecting ∼1% of the world population. Recently, in a genome-wide association study and a follow-up in Caucasians, Stefansson et al. examined 7662 schizophrenic cases and 29053 normal control subjects and reported seven common single nucleotide polymorphisms (SNPs) that were significantly (>10(-8)) associated with schizophrenia.

METHODS

To investigate whether these risk SNPs were significantly associated in Han Chinese, we analyzed the seven SNPs in 2496 schizophrenia patients and 5184 normal control subjects. Because only three of the seven SNPs were polymorphic in Han Chinese, we genotyped two additional common SNPs from the same risk regions.

RESULTS

Three SNPs, rs6932590 (p = .00096), rs3131296 (p = 1.29 × 10(-6)), and rs3130375 (p = 1.76 × 10(-5)), mapping to the major histocompatibility complex region and one SNP rs2958182 (p = 3.64 × 10(-6)) located in the TCF4 gene were significant in our sample set. A meta-analysis using published genome-wide association study results also supported our findings.

CONCLUSIONS

Our results confirm that common risk factors in the major histocompatibility complex region and TCF4 gene are associated with schizophrenia in Han Chinese, but our results fail to show an association with SNP rs12807809 in the NRGN gene.

摘要

背景

精神分裂症是一种影响全球约 1%人口的复杂重大精神疾病。最近,Stefansson 等人在全基因组关联研究及对高加索人群的后续研究中,对 7662 例精神分裂症患者和 29053 例正常对照进行了研究,报告了 7 个与精神分裂症显著相关(>10(-8))的常见单核苷酸多态性(SNP)。

方法

为了研究这些风险 SNP 是否与汉族人群显著相关,我们分析了 2496 例精神分裂症患者和 5184 例正常对照中的 7 个 SNP。由于汉族人群中只有 7 个 SNP 中的 3 个是多态性的,我们对来自同一风险区域的另外 2 个常见 SNP 进行了基因分型。

结果

3 个 SNP(rs6932590,p=0.00096)、rs3131296(p=1.29×10(-6))和 rs3130375(p=1.76×10(-5)),位于主要组织相容性复合物区域,以及一个 SNP rs2958182(p=3.64×10(-6)),位于 TCF4 基因,在我们的样本集中是显著的。使用已发表的全基因组关联研究结果进行的荟萃分析也支持了我们的发现。

结论

我们的结果证实,主要组织相容性复合物区域和 TCF4 基因中的常见风险因素与汉族人群中的精神分裂症有关,但我们的结果未能显示与 NRGN 基因中的 SNP rs12807809 有关。

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