【摘要】 精神分裂症是一种常见的复杂精神疾病。大量的实验证据表明,遗传因素在精神分裂症的发生中起到了重要的作用。截至目前,有报道称至少100个基因与精神分裂症相关,但它们在不同人群中的重复性不好。在这些基因中,RELN在多个人群中都被证实与精神分裂症相关,表明它可能是一个真实的易感基因。目前,在RELN基因上有很多个单核苷酸多态性位点被证实与精神分裂症相关,其中研究最多的是通过全基因组关联分析发现的在RELN基因第四个内含子中的单核苷酸多态性位点rs7341475,它被证明与精神分裂症的发生相关。为了验证该位点在中国人群中是否与精神分裂症相关,作者对来自中国玉溪的病例——对照样本(400位患者和400位正常人)进行了遗传分析。结果显示,在该样本中rs7341475与精神分裂症不相关,这表明rs7341475在中国人群中可能不是致病多态性位点。更多还原

【Abstract】 Schizophrenia is a common and complex psychiatric disorder.Significant evidence has suggested that genetic factors play pivotal roles in the etiology of schizophrenia.More than 100 schizophrenia candidate genes have been reported;however,many of them do not have satisfactory replications among different populations.Among these genes,RELN is thought to be associated with schizophrenia in many populations,suggesting it is a real risk gene for this disorder.Identified in the GWAS study,single nucleotide polymorphism(SNP) rs7341475,located in intron 4 of RELN,has been successfully replicated in subsequent investigations,implying its potential contribution to schizophrenia susceptibility.To investigate the association of rs7341475 with schizophrenia in Chinese populations,a case-control association analysis was conducted with samples from Yuxi(400 cases and 400 controls) in southwestern China.The results do not indicate any association of rs7341475 with schizophrenia,which suggests it is not a risk SNP for schizophrenia in Han Chinese.更多还原