DTNBP1基因rs4715986位点多态性与中国汉族人群偏执型精神分裂症相关

rs4715986 in DTNBP1 is associated with paranoid schizophrenia in Chinese Han population

目的通过两步法研究中国汉族人群DTNBP1基因的多态性与偏执型精神分裂症的相关性。方法发现阶段:在532例偏执型精神分裂症患者及488名健康对照中使用Sanger测序方法检测DTNBP1的11个SNP位点。验证阶段:在1 111例偏执型精神分裂症患者及1 435名健康对照中使用Taqman探针分型的方法对发现阶段检出阳性的rs4715986位点进行验证。结果发现DTNBP1中的rs4715986位点与偏执型精神分裂症的高患病风险相关(χ~2=11.02,P<0.01)。在验证人群中重复出rs4715986与偏执型精神分裂症的相关性(χ~2=9.29,P=0.01)。结论DTNBP1基因rs4715986位点的多态性与偏执型精神分裂症的高患病风险相关。DTNBP1可能是中国汉族人群偏执型精神分裂症的易感基因。

Objective To investigate association of the DTNBP1 gene polymorphisms with paranoid schizophrenia in Chinese Han populations by a two-stage study.Methods In the discovery stage,11 SNPs in DTNBP1 were tested in 532 patients with paranoid schizophrenia and 488 controls by Sanger sequencing.In the validation sample（1 111 cases and 1 435 controls）,Taqman genotyping method was used to genotype SNP rs4715986.Results In the discovery stage,SNP rs4715986 showed disease association（χ^2= 11.02,P〈0.01） with paranoid schizophrenia for analysis of 532 patients and 488 controls;such an association survived a correction with 10 000 permutations（corrected P〈0.05）.In the validation sample（1 111 cases and 1 435 controls）,we confirmed the genotypic association（χ^2= 9.292,P = 0.01） of rs4715986 with paranoid schizophrenia.Conclusions The present results suggest that the DTNBP1 gene may be mainly involved in the development of paranoid schizophrenia in the Chinese Han population.