芳香烃受体核转位蛋白-991G﹥A多态性与慢性阻塞性肺疾病易感性研究  

Study on the associated of-991G﹥A polymorphism in aryl hydrocarbon receptor nuclear translocator gene with the susceptibility of chronic obstructive pulmonary disease

作　　者：邹林南[1] 杨磊[1] 郭元[1] 马关培[1] 周玉民[2] 卢文菊[2] 王健[2] 冉丕鑫[2] 吕嘉春[1] 

机构地区：[1]广州医学院公共卫生学院,呼吸疾病国家重点实验室,广东广州510182 [2]广州医学院第一附属医院,呼吸疾病国家重点实验室

出　　处：《现代预防医学》2013年第2期312-314,319,共4页Modern Preventive Medicine

基　　金：教育部"长江学者和创新团队发展计划"创新团队项目(IRT0961);广东省自然科学基金团队项目(10351012003000000)资助

摘　　要：目的探讨芳香烃受体核转位蛋白(Aryl hydrocarbon receptor nucleartranslocator,ARNT)基因-991G﹥A多态性与慢性阻塞性肺疾病(Chronic obstructive pulmonary disease,COPD)发病的关联。方法采用PCR-RFLP技术检测223例COPD患者和223例健康对照ARNT基因-991G﹥A基因型,用SAS9.13软件进行非条件Logistic回归分析该位点变异与COPD发病的关联。结果 ARNT基因-991G﹥A基因型频率和等位基因频率在COPD组和对照组间分布差异有统计学意义(P值分别为0.001,0.002);以携带GG基因型个体为参照,携带A(AG+AA)基因型个体发生COPD的危险性是GG基因型携带者的2.01倍(校正OR=2.01;95%CI=1.30～3.12;P﹤0.001);进一步分层分析显示,-991G﹥A基因型和等位基因分布频率差异在非吸烟者中更显著(P值皆为0.005)。结论 ARNT基因-991G﹥A位点多态性与COPD易感性有关,携带A基因型能增加COPD的发病风险。OBJECTIVE To investigate the association of -991G 〉 A polymorphism in aryl hydrocarbon receptor nuclear translocator （ARNT） gene with susceptibility of chronic obstructive pulmonary disease （COPD）. METHODS Polymerase chain reaction-restrained fragment length polymorphism （PCR-RFLP） was applied to detect the -991G 〉 A genotypes in 223 COPD patients and 223 healthy controls. SAS 9.13 statistical software was used to analyze the genetic variant and COPD risk through non-conditional Logistic regression. RESULTS Significant differences were found in the distribution of -991G 〉 A genotypes of ARNT and allele frequencies between COPD patients and healthy controls （P value was 0.001, 0.002 respectively）. Compared to the GG genotype, the A （AG＋AA） genotypes were associated with increased risk of COPD （adjusted OR = 2.01 ; 95% CI = 1.30-3.12; P 〈 0.001 ）. Further stratification analysis showed that the difference of frequency distributions of -991G 〉 A genotypes and alleles were more profound in never smokers. CONCLUSION Our study indicates that the -991G 〉 A polymorphism of ARNT gene is associated with increased risk of COPD and the A genotypes may increase the susceptibility of COPD.

关 键 词：芳香烃受体核转位蛋白 基因多态性 慢性阻塞性肺疾病 

分 类 号：R563[医药卫生—呼吸系统]