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

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,P0.01)。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。

rs4715986 in DTNBP1 is associatedwith paranoid schizophrenia in Chinese Han population

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 (χ2=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 (χ2=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.