MT2A基因多态性与新疆饮水型地方型砷中毒的关联研究  

Association between MT2A Gene Polymorphism and Water-Born Endemic Arsenism in Xinjiang

作　　者：谢惠芳[1] 吴顺华[1] 张杰[1] 马艳[1] 郑玉建[1] 

机构地区：[1]新疆医科大学公共卫生学院,新疆乌鲁木齐830011

出　　处：《环境与健康杂志》2011年第2期99-102,共4页Journal of Environment and Health

基　　金：国家自然科学基金(30960323)

摘　　要：目的探讨金属硫蛋白(MT)2A基因多态性与饮水型地方性砷中毒易感性的关系。方法于2007年选择新疆奎屯饮水型地方性砷中毒病区饮用高砷水5年以上的慢性砷中毒患者共96人作为病例组;选择该病区饮用砷含量正常水源5年以上的健康人群共73人作为内对照组;选择非病区正常健康人群共89人作为外对照组。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术进行MT2A基因rs10636位点(CC、CG、GG基因型和C、G等位基因)多态性的检测。采用Logisitic回归分析不同基因型与饮水型地方性砷中毒发病风险的关系。结果 MT2A基因rs10636位点CC、CG、GG各基因型频率在三组间的分布差异有统计学意义(χ2=16.353,P<0.05);而C、G等位基因频率在三组间的分布,差异无统计学意义。经Logistic回归分析,在调整年龄、性别、饮水年限后,女性携带CG+GG(杂合型+突变纯合型)基因型的概率体是男性的1.941倍(95%CI=1.086～3.471)。结论 MT2A基因rs10636多态位点的基因型和饮水型地方性砷中毒有关,性别是影响MT2A基因rs10636位点多态性的危险因素。MT2A基因rs10636位点可以作为饮水型地方性砷中毒的生物标志。Objective To investigate the relationship between genetic polymorphism in MT2A rs10636 locus in chromosome 16 and susceptibility of water-born endemic arsenism. Methods MT2A gene polymorphism were analyzed by polymerase chain reaction restriction fragment length polymorphism technique（PCR-RFLP） among 96 patients with arsenism （case group）, 73 healthy individuals （intra-control,IC） and 89 unrelated healthy individuals （extra-control, EC） in 2007. Results The distributions of genotype frequencies of rs10636 were deviated from the Hardy-Weinberg equilibrium （P〈0.05）; The difference of MT2A rs10636 CG,GG and CG genotype in three groups was statistically significant （χ2=16.353,P〈0.05）. Binary logistic regression analysis showed： gender could effect MT2A genetic polymorphism （P〈0.05）,the mutation superiority of female was higher than male by 1.941 times. Conclusions MT2A （rs10636） gene may be associated with water-born endemic arsenism,and can be used as a biomarker in the related study.

关 键 词：饮水型地方性砷中毒 金属硫蛋白 单核苷酸多态性 

分 类 号：R181.3[医药卫生—流行病学]