P2X7和TAP2基因多态性与结核病易感关联性的家庭病例对照研究  

A family case-control study of the association of P2X7 and TAP2 gene polymorphisms with susceptibility to tuberculosis

作　　者：吴山客 廖寅谦 骆嘉泽 张开漩 胡宽 邹频昂 曾转萍 汪保国 WU Shanke;LIAO Yinqian;LUO Jiaze;ZHANG Kaixuan;HU Kuan;ZOU Pin'ang;ZENG Zhuanping;WANG Baoguo(Department of Epidemiology,School of Public Health,Guangdong Pharmaceutical University,Guangzhou,Guangdong 510220,China)

机构地区：[1]广东药科大学公共卫生学院流行病学教研室,广东广州510220

出　　处：《中国预防医学杂志》2024年第10期1304-1311,共8页Chinese Preventive Medicine

基　　金：广州市科技计划项目(202102080272)。

摘　　要：目的分析P2X7 rs2230911和TAP2 rs3819721位点基因多态性和基因与环境之间的交互作用对结核病(tuberculosis,TB)易感性的影响。方法本研究采用以家庭为单位的病例对照研究,选取2017年1月—2021年1月广东省多个结核病防治单位收集的结核病多发家庭中结核病确诊患者作为病例(TB)组,与病例组有血缘关系且未患病者组成家庭密切接触者(healthy household contacts,HHC)组,选取当地健康居民家庭为健康对照(healthy controls,HC)组。Logistic回归分析一般人口学特征、行为和环境因素与结核病的关联,广义多因子降维法(generalized multifactor dimensionality reduction,GMDR)分析基因-环境交互作用对结核病患病的影响。结果P2X7 rs2230911位点的CG基因型(OR共显性=1.84,95%CI:1.04~3.26)、CG-GG基因型(OR显性=1.94,95%CI:1.02~3.69)和TAP2 rs3819721位点的AG基因型(OR共显性=3.34,95%CI:1.71~6.54;OR超显性=3.43,95%CI:1.73~6.80)、AA基因型(OR共显性=4.64,95%CI:1.18~18.28)、AG-AA基因型(OR显性=4.26,95%CI:2.16~8.41)均会增加健康对照人群患结核病的风险。而TAP2 rs3819721位点的AG基因型(OR共显性=1.93,95%CI:1.05~3.53)、AG-AA基因型(OR显性=1.95,95%CI:1.09~3.50)均会增加家庭密切接触者患结核病的风险。GMDR分析基因-环境交互作用显示,在TB组和HHC组间,吸烟、每周锻炼、TAP2 rs3819721间存在交互作用(P<0.05,TA=0.689,CVC=10/10)。而在TB组和HC组间,九因子作用模型(人均住房面积、居住地、体质量指数、文化程度、吸烟、每周锻炼、室内环境卫生、P2X7 rs2230911、TAP2rs3819721)是最佳模型(P<0.05,TA=0.767,CVC=10/10)。结论P2X7 rs2230911位点和TAP2rs3819721位点的基因多态性及其与环境因素之间的交互作用在结核病的发病机制中可能发挥重要作用。Objective To investigate the effect of gene polymorphisms at the P2X7 rs2230911 and TAP2rs3819721 and analyze the impact of gene-environment interactions on susceptibility to tuberculosis(TB).Methods A family-based case-control study was used,in which confirmed TB patients in TB-prevalent families collected by multiple TB control units in Guangdong Province from January 2017 to January 2021 were selected as the case(TB)group;those who were related to the case group and did not suffer from the disease formed the healthy household contacts(HHC)group,and families of local healthy residents were selected as the healthy controls(HC)group.Logistic regression was used to analyze the association of general demographic characteristics,behavioral and environmental factors with TB,and generalized multifactor dimensionality reduction(GMDR)was used to analyze the effect of gene-environment interactions on TB prevalence.Results The CG genotype(OR_(co-dominant)=1.84,95%CI:1.04-3.26),CG-GG genotype(OR_(dominant)=1.94,95%CI:1.02-3.69)of P2X7 rs2230911,and the AG genotype(OR_(co-dominant)=3.34,95%CI:1.71-6.54;OR_(overdominant)=3.43,95%CI:1.73-6.80),AA genotype(OR_(co-dominant)=4.64,95%CI:1.18-18.28),and AG-AA genotype(OR_(dominant)=4.26,95%CI:2.16-8.41)at the TAP2 rs3819721,all increased the risk of TB disease in HHC group.In contrast,the AG genotype(OR_(co-dominant)=1.93,95%CI:1.05-3.53)and AG-AA genotype(OR_(dominant)=1.95,95%CI:1.09-3.50)at the TAP2 rs3819721 increased the risk of TB in the HHC group.GMDR analysis of geneenvironment interactions showed an interaction between smoking,weekly exercise,and TAP2 rs3819721 between the TB and HHC groups(P<0.05,TA=0.689,CVC=10/10).The best model for the TB and HC groups was a 9-factor model including living area,BMI,education level,smoking,weekly exercise,indoor environmental hygiene,P2X7 rs2230911,TAP2 rs3819721(P<0.05,TA=0.767,CVC=10/10).Conclusions Genetic polymorphisms at the P2X7 rs2230911 and the TAP2 rs3819721 and their interaction with environmental factors may play an importan

关 键 词：结核病 P2X7 TAP2 基因多态性 病例对照研究 

分 类 号：R183.3[医药卫生—流行病学]