Plos one：精神分裂症易感基因欧亚人群有差异

记者日前从中科院昆明动物所获悉，该所研究人员发现，在欧洲人群中与精神分裂症显着相关的易感位点rs1344706，在中国人群中并不是一个精神分裂症易感位点。相关成果在线发表于《科学公共图书馆·综合》。

精神分裂症是困扰人类的重大精神疾病之一，并有非常高的遗传力。近年来，随着全基因组关联分析的逐步开展，全球已报道了一系列的精神分裂症易感基因。然而，这些研究大多集中在欧洲人群，尚不清楚所报道的易感基因在亚洲人群中是否也与精神分裂症显着相关。

“ZNF804A基因内的单核苷酸多态位点rs1344706在欧洲人群中与精神分裂症显着相关，这已在独立的欧洲群体样本中得到重复验证。但是，在中国人群中该位点是否与精神分裂症显着相关仍然有争议，国内不同的研究小组在各自的样本中得到了不同的结果。”博士生李明介绍说，他们对已发表的中国人群精神分裂症病例和对照样本（包括8982个病人和12342个健康人）进行数据收集和整合分析，发现rs1344706在中国人群中并不是一个精神分裂症易感位点。

相关专家认为，对于像精神分裂症这样的复杂疾病，不同地区的人群之间由于遗传背景的差异会导致关联分析结果的不同。这提示人们在精神分裂症易感基因的寻找方面需要更加谨慎和小心。

Meta-Analysis Indicates That the European GWAS-Identified Risk SNP rs1344706 within ZNF804A Is Not Associated with Schizophrenia in Han Chinese Population.
Abstract
Recent genetic association studies have implicated several candidate susceptibility variants for schizophrenia among general populations. Rs1344706, an intronic SNP within ZNF804A, was identified as one of the most compelling candidate risk SNPs for schizophrenia in Europeans through genome-wide association studies (GWASs) and replications as well as large-scale meta-analyses. However, in Han Chinese, the results for rs1344706 are inconsistent, and whether rs1344706 is an authentic risk SNP for schizophrenia in Han Chinese is inconclusive. Here, we conducted a systematic meta-analysis of rs1344706 with schizophrenia in Chinese population by combining all available case-control samples (N = 12), including a total of 8,982 cases and 12,342 controls. The results of our meta-analysis were not able to confirm an association of rs1344706 A-allele with schizophrenia (p = 0.10, odds ratio = 1.06, 95% confidence interval = 0.99-1.13). Such absence of association was further confirmed by the non-superiority test (p = 0.0003), suggesting that rs1344706 is not a risk SNP for schizophrenia in Han Chinese. Detailed examinations of individual samples revealed potential sampling bias in previous replication studies in Han Chinese. The absence of rs1344706 association in Han Chinese suggest a potential genetic heterogeneity in the susceptibility of schizophrenia on this locus and also demonstrate the difficulties in replicating genome-wide association findings of schizophrenia across different ethnic populations.