CTLA-4基因多态性与膀胱癌易感性的相关性及基因-环境交互作用的研究  

Correlation of CTLA-4 gene polymorphism with bladder cancer susceptibility and the interaction of gene-environment

作　　者：刘琦 赵灵燕[1,2] 程佳颖 周旭颖[1,2] 高玉敏 王海生 LIU Qi;ZHAO Lingyan;CHENG Jiaying;ZHOU Xuying;GAO Yumin;WANG Haisheng(College of Public Health,Inner Mongolia Medical University,Inner Mongolia Hohhot 010020,China;Key Laboratory of Molecular Epidemiology of Chronic Diseases,Inner Mongolia Medical University,Inner Mongolia Hohhot 010020,China;College of Basic Medicine,Inner Mongolia Medical University,Inner Mongolia Hohhot 010020,China)

机构地区：[1]内蒙古医科大学公共卫生学院,内蒙古呼和浩特010020 [2]内蒙古医科大学慢性病分子流行病学重点实验室,内蒙古呼和浩特010020 [3]内蒙古医科大学基础医学院,内蒙古呼和浩特010020

出　　处：《现代肿瘤医学》2022年第22期4138-4142,共5页Journal of Modern Oncology

基　　金：内蒙古自治区卫生计生科研计划项目(编号:201701040)。

摘　　要：目的:探讨细胞毒性T淋巴细胞抗原4(cytotoxic T lymphocyte associated antigen-4,CTLA-4)基因rs733618、rs5742909、rs231775位点单核苷酸多态性与膀胱癌的相关性。方法:收集188例膀胱癌患者和188名健康对照人群的人口学及生活行为方式资料,采集研究对象5 mL外周血提取DNA,通过imLDR技术对rs733618、rs5742909、rs231775位点进行基因分型,观察各位点基因型在病例组和对照组之间的分布差异,使用条件Logistic回归分析各基因型与膀胱癌发病风险的关系,并基于GMDR探究基因与环境的交互作用。结果:CTLA-4 rs733618位点基因型和等位基因频率在病例组和对照组间的分布差异均无统计学意义(P>0.05);rs231775位点基因型和等位基因频率在两组的分布差异均有统计学意义(P<0.05),但rs733618、rs5742909、rs231775三个位点与患膀胱癌的风险关系均未达到统计学差异(P>0.05)。吸烟是膀胱癌的独立危险因素(OR=2.982,95%CI:1.594~5.577)。GMDR分析表明rs231775位点、吸烟史和文化程度间存在交互作用(OR=3.44,95%CI:1.82~6.53)。结论:CTLA-4基因rs733618、rs5742909、rs231775位点多态性与中国人群膀胱癌患病风险可能无关,其中rs231775位点与吸烟史及文化程度因素存在交互作用,增加膀胱癌患病风险。Objective:To investigate the relationship between single nucleotide polymorphism of cytotoxic T lymphocyte associated antigen-4(CTLA-4)gene rs733618,rs5742909,rs231775 and bladder cancer.Methods:The demographic and lifestyle data of 188 patients with bladder cancer and 188 healthy controls were collected.DNA was extracted from 5 mL peripheral blood of the subjects.Genotypes of rs733618,rs5742909 and rs231775 were genotyped by imLDR technology.The distribution difference of genotypes between case group and control group was observed.Conditional Logistic regression was used to analyze the relationship between genotypes and bladder cancer incidence.GMDR was used to explore the interaction between gene and environment.Results:There was no significant difference in the distribution of CTLA-4 rs733618 genotype and allele frequency between the case group and the control group(P>0.05).The distribution of rs231775 genotype and allele frequency in the two groups were statistically significant(P<0.05),but the relationship between rs733618,rs5742909,rs231775 and bladder cancer risk was not statistically significant(P>0.05).Smoking was an independent risk factor for bladder cancer(OR=2.982,95%CI:1.594~5.577).GMDR analysis showed that there was interaction among rs231775 locus,smoking history and education level(OR=3.44,95%CI:1.82~6.53).Conclusion:The rs733618,rs5742909 and rs231775 polymorphism of CTLA-4 gene may not be associated with the risk of bladder cancer in Chinese population.rs231775 has interaction with smoking history and education level,which increases the risk of bladder cancer.

关 键 词：CTLA-4基因 单核苷酸多态性 膀胱癌 GMDR 交互作用 

分 类 号：R737.14[医药卫生—肿瘤]