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

作　　者：叶宁[1] 孙玉慧[1] 胡慧灵[1] 许琪[1] YE Ning SUN Yu-hui HU Hui-ling XU Qi(Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences CAMS, School of Basic Medicine PUMC, Beijing 100005)

机构地区：[1]中国医学科学院基础医学研究所北京协和医学院基础学院国家医学分子生物学重点实验室,北京100005

出　　处：《基础医学与临床》2017年第5期676-681,共6页Basic and Clinical Medicine

基　　金：国家自然科学基金(81501131;81471325;31430048;81625008)

摘　　要：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.

关 键 词：精神分裂症 关联研究 DTNBP1 rs4715986 

分 类 号：R749.3[医药卫生—神经病学与精神病学]