中国汉族人群结节性硬化复合体基因多态性与精神分裂症的相关性分析  

作　　者：高可润 傅迎美 张燃 李华芳[2] 禹顺英[2] 

机构地区：[1]浙江大学医学院附属精神卫生中心/杭州市第七人民医院,310013 [2]上海交通大学医学院附属精神卫生中心,200030

出　　处：《浙江临床医学》2025年第2期269-271,共3页Zhejiang Clinical Medical Journal

基　　金：浙江省医药卫生科技计划项目(2021RC025);杭州市医药卫生科技项目(A20200609)。

摘　　要：目的探讨中国汉族人群中结节性硬化复合体基因(tuberous sclerosis complex,TSC)多态性与精神分裂症风险的相关性。方法纳入933例中国汉族精神分裂症患者和1339例健康人群作为对照组,采集外周静脉血并提取DNA。在Hapmap数据库中筛选TSC1和TSC2基因的标签单核苷酸多态性(single nucleotide polymorphism,SNP),用SNaPshot技术进行基因分型。共有6个SNP分型成功并符合Hardy-Weinberg平衡。通过卡方检验比较精神分裂症组和健康对照组间的等位基因及基因型分布频率。结果TSC2基因的多态性rs2074969的A等位基因在精神分裂症组中的分布频率(13.1%)显著低于健康对照组(16.0%)(P=0.006,OR=0.79,95%CI:0.67~0.94),并通过Bonferroni校正(P<0.008)。未发现TSC1基因多态性与精神分裂症有关联。结论rs2074969-A(TSC2)基因多态性与精神分裂症患病风险相关。Objective To explore the association between tuberous sclerosis complex(TSC)gene polymorphisms and the risk of schizophrenia in the Chinese Han population.Methods A total of 933 Chinese Han patients with schizophrenia and 1339 healthy individuals as a control group were included.Peripheral venous blood was collected and DNA was extracted.Tag Single Nucleotide Polymorphisms(SNPs)of the TSC1 and TSC2 genes were selected from the Hapmap database and genotyped using the SNaPshot technology.A total of 6 SNPs were successfully genotyped and in Hardy-Weinberg equilibrium.Chi-square tests were conducted to compare the allele and genotype frequencies between the schizophrenia group and the healthy control group.Results The distribution frequency of the A allele of the TSC2 gene polymorphism rs2074969 in the schizophrenia group(13.1%)was significantly lower than that in the healthy control group(16.0%)(P=0.006,OR=0.79,95%CI:0.67~0.94),and it passed the Bonferroni correction(P<0.008).No association was found between TSC1 gene polymorphisms and schizophrenia.Conclusion The rs2074969-A(TSC2)gene polymorphism is associated with the risk of schizophrenia.

关 键 词：精神分裂症 结节性硬化复合体 单核苷酸多态性 关联研究 

分 类 号：R749.3[医药卫生—神经病学与精神病学]