Common Variants in Major Histocompatibility Complex Region and TCF4 Gene Are Significantly Associated with Schizophrenia in Han Chinese
Common Variants in Major Histocompatibility Complex Region and TCF4 Gene Are Significantly Associated with Schizophrenia in Han Chinese
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DOI：
10.1016/j.biopsych.2010.06.014
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发表时间：
2010-10-01
影响因子：
10.6
通讯作者：
Shi, YongYong
中科院分区：
文献类型：
--
作者：
Li, Tao;Li, Zhiqiang;Shi, YongYong
背景：精神分裂症是一种复杂的重大精神疾病，约占世界人口的1%。最近，在一项全基因组关联研究和对高加索人的后续研究中，Stefansson等人。检测了76 6 2例精神分裂症患者和29053例正常对照，报告了7个与精神分裂症显著相关的常见单核苷酸多态(-gt；10(-8))。方法：对2 496例精神分裂症患者和5 184例正常对照的7个单核苷酸多态性进行分析。结果：rs6932590(p=.00096)、rs3131296(p=1.29 x 10(-6))和rs3130375(p=1.76 x 10(-5))3个SNP在中国汉族人群中具有显著意义，分别定位于主要组织相容性复合体区域和位于TCF4基因的1个SNP rs2958182(p=3.64 x 10(-6))。基于已发表的全基因组关联研究结果的Meta分析也支持我们的发现。结论：我们的结果证实了主要组织相容性复合体区域和TCF4基因中的共同危险因素与中国汉族人精神分裂症相关，但我们的结果没有显示NRGN基因中的SNP rs12807809与精神分裂症相关。
Background: Schizophrenia is a complex major psychiatric disorder affecting similar to 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 x 10(-6)), and rs3130375 (p = 1.76 x 10(-5)), mapping to the major histocompatibility complex region and one SNP rs2958182 (p = 3.64 x 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.