ERCC2单核苷酸多态性对宁夏原发性男性不育的影响  

Relationship between ERCC2 single nucleotide polymorphisms and male idiopathic infertility in Ningxia

作　　者：刘春莲[1,2] 焦海燕[3,2] 马强[3,2] 吴昕[1,2] 贾韶彤[1,2] 景万红[1,2] 阳清虎[1,2] 

机构地区：[1]宁夏医科大学总医院生殖医学中心,宁夏银川750004 [2]宁夏医科大学生育力保持教育部重点实验室,宁夏银川750004 [3]宁夏医科大学遗传学与细胞生物学教研室,宁夏银川750004

出　　处：《中华男科学杂志》2014年第5期419-422,共4页National Journal of Andrology

基　　金：宁夏自然科学基金面上项目(NZ11281);宁夏医科大学面上科研项目(XQ2011020)~~

摘　　要：目的：探讨DNA修复基因（ERCC2）单核苷酸多态性（SNPs）rs13181、rs1618536和SNPrs1799793对宁夏原发性男性不育的影响。方法：采用病例一对照研究方法，运用MassArraySNP技术，对宁夏地区351例原发性男性不育患者[年龄22—38（31．0±4．2）岁]和327例健康生育对照人群[年龄19—42（33．04-5．9）岁]的ER—CC2SNPrs13181、m1618536和m1799793进行分型检测。结果：ERCC2SNPm13181、rs1618536和m1799793基因型频率和等位基因频率在病例组和对照组中的分布无统计学意义（P〉0．05），其中AnyG-anyA-anyA突变基因型频率在两组中分布具有统计学差异（OR=0．414，95％CI=0．176～0．970）。结论：ERCC2SNPrs13181、m1618536和rs1799793在宁夏地区男性原发性不育中存在交互作用，随着联合突变位点的增多，不育症的发病风险增加。Objective： To explore the influence of the DNA repair gene ERCC2 single nucleotide polymorphisms （SNPs） rs13181, rs1618536, and rs1799793 on male idiopathic infertility in Ningxia, China. Methods： Using MassArray, we conducted a case-control study and genotyped three ERCC2 SNPs rsl3181, rsl618536, and rs1799793 for 351 males （aged 31.0 ± 4.2 years） with idiopathic infertility and another 327 normal fertile men （ aged 33.0 ± 5.9 years） as controls. Results ： The ERCC2 AnyG-anyA-anyA genotypes were significantly associated with an increased risk of idiopathic infertility （OR 0. 414, 95% CI 0. 176 -0. 970）, while the three single ERCC2 SNPs rs13181, rs1618536, and rs1799793 showed no significant differences between the cases and controls （P 〉 0. 05）. Conclusion： The ERCC2 SNPs rs13181, rs1618536, and rs1799793 play a role of interaction in male idiopathic infertility in Ningxia, contributing to the risk of the disease. Natl J Androl, 2014, 20 （5） ： 419 -422

关 键 词：DNA修复基因 ERCC2 原发性男性不育 单核苷酸多态性 宁夏 

分 类 号：R698.2[医药卫生—泌尿科学]