Analysis of common genetic variants identifies RELN as a risk gene for schizophrenia in Chinese population
Analysis of common genetic variants identifies RELN as a risk gene for schizophrenia in Chinese population
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常见遗传变异分析表明RELN是中国人群精神分裂症的危险基因
DOI：
10.3109/15622975.2011.587891
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发表时间：
2013-03-01
影响因子：
3.1
通讯作者：
Su, Bing
中科院分区：
文献类型：
--
作者：
Li, Ming;Luo, Xiong-Jian;Su, Bing
抽象的目标。多条证据表明，精神分裂症患者大脑中的RELN基因和蛋白都可能下调。最近在欧洲人群中进行的关联研究表明，RELN是精神分裂症的危险基因。在这项研究中，我们检验了RELN是否对中国人群中精神分裂症的风险有贡献。方法：研究方法。采用病例-对照关联分析方法，对中国地区两个独立的汉族样本(昆明样本和玉溪样本)的19个具有代表性的单核苷酸多态(SNPs)进行病例-对照分析。结果。我们在昆明样本中发现了6个与精神分裂症显著相关的SNP，其中4个在合并样本中仍然显著(P值在0.006~4.0×10−5之间)。单倍型分析还表明，包含6个重要SNP(全球P<；1.0×10−5)的单倍型之间存在显著关联。此外，我们还在昆明样本中观察到了其他几种与精神分裂症显著相关的单倍型(由不同的SNPs定义)。然而，报告的rs7341475在德系犹太人中的关联性在汉族人中并不显著。结论：RELN基因是中国人群中精神分裂症的易感基因，也可能是全球主要人群中精神分裂症的共同危险基因。
Abstract Objectives. Several lines of evidence have shown that both RELN mRNA and protein are possibly down-regulated in the brain of schizophrenia patients. Recent association studies in European populations suggested RELN as a risk gene for schizophrenia. In this study, we test if RELN contributes to the risk of schizophrenia in Chinese population. Methods. We conducted case-control association analysis of 19 representative single nucleotide polymorphisms (SNPs) spanning the entire region of RELN in two independent Han Chinese samples from southwestern China (the Kunming sample and the Yuxi sample). Results. We identified six SNPs significantly associated with schizophrenia in the Kunming sample and four of them remained significant in the combined samples (the P values range from 0.006 to 4.0 × 10−5). Haplotype analysis also suggested significant associations for the haplotypes incorporating the six significant SNPs (global P < 1.0 × 10−5). Additionally, we also observed several other haplotypes (defined by a different set of SNPs) significantly associated with schizophrenia in the Kunming sample. However, the reported association of rs7341475 in Ashkenazi Jews was not significant in Han Chinese. Conclusions: Our findings demonstrate that RELN is a susceptibility gene for schizophrenia in Chinese population, and it is likely a common risk gene for schizophrenia in major populations worldwide.