核苷酸切除修复交叉互补基因多态性与地方性砷中毒易感性的关系  

Association between nucleotide excision repair cross-complementing gene polymorphism and susceptibilityto endemic arsenic poisoning

作　　者：骆兰荣 高彦辉 赵丽军 李媛媛 魏玮 冯红旗 邱传营 何倩 付松波 孙殿军 

机构地区：[1]哈尔滨医科大学中国疾病预防控制中心地方病控制中心克山病防治研究所卫计委病因流行病学重点实验室黑龙江省普通高校病因流行病学重点实验室,哈尔滨150081 [2]地氟病防治研究所 [3]北京市海淀区东城疾病预防控制中心,北京100009

出　　处：《中华地方病学杂志》2018年第2期91-95,共5页Chinese Journal of Endemiology

基　　金：国家自然科学基金（81372936）

摘　　要：目的探讨核苷酸切除修复交叉互补（ERCC）基因单核甘酸多态性（SNP）位点rsll615、rs13181、rs238406、rs6498486、17655的多态性与地方性砷中毒易感性的关系。方法对中国西北部饮水型砷中毒病区人群开展病例一对照研究，最终纳入848例样本，包括348例病例和500例对照，采集静脉血3—5ml，采用聚合酶链式反应．限制性片段长度多态性（PCR．RFLP）法检测各位点的基因型，并使用Logistic回归分析评估各位点的基因型与地方性砷中毒的关系。结果ERCCl基因rsll615、ERCC2基因238406、ERCC4基因rs6498486和ERCC5基因-17655位点的多态性与地方性砷中毒易感性未见相关性（P均〉0．05）。ERCC2基因rs13181位点CC基因型和至少携带一个等位基因C的个体与携带AA基因型的个体比较．会增加地方性砷中毒的风险，其调整后的比值比（OR值）及95％可信区间（C1）分别为1．63（1．13，2．34）、1．64（1．14，2．34）。结论ERCCl基因rsll615位点、ERCC2基因rs238406位点、ERCC4基因-6498486位点与ERCC5基因rs17655位点与地方性砷中毒的易感性不存在相关关系，ERCC2基因rs13181位点多态性增加地方性砷中毒的发病风险。Objective To investigate the relationship between nucleotide excision repair cross--complementing （ERCC） gene polymorphisms [single nucleotide polymorphism （SNP） sites： rsl1615, rs13181, rs238406, rs6498486, rs17655] and susceptibility to endemic arsenic poisoning. Methods The study recruited 848 subjects, including 348 eases and 500 controls, from populations exposed to high arsenic levels through drinking water in northwest China, and 3 - 5 ml venous blood was collected. The genotypes were determined using polymerase chain reaction and restriction fragment length polymorphism techniques （PCR-RFLP）. Logistic regression analysis was used to assess the association of genotypes with endemic arsenic poisoning. Results The polymorphisms of rsl1615 （ERCC1）, rs238406 （ERCC2）, rs6498486 （ERCC4） and rs17655 （ERCC5） and endemic arsenic poisoning were not related （/9 〉 0.05）. Participants who carried the CC genotype or at least one C allele for the ERCC2 rs13181 had an increased risk of endemic arsenic poisoning [OR （95%C/） = 1.63 （1.13, 2.34）, 1.64 （1.14, 2.34）] compared with wild type homozygous individuals. Conculsions There is no positive correlation between the polymorphisms of ERCC1 rsl1615, ERCC2 rs238406, ERCC4 rs6498486, ERCC5 rs17655 and endemic arsenic poisoning. ERCC2 rs13181polymorphism increases the risk of endemic arsenic poisoning.

关 键 词：砷中毒 基因型 多态性 单核甘酸 核苷酸切除修复交叉互补基因 疾病易感性 

分 类 号：R599.1[医药卫生—内科学]