GPx4基因调控区单核苷酸多态性与寡弱精症男性不育的相关性  

Association between single nucleotide polymorphisms of 5＇-untranslated region of GPx4 gene and male infertility

作　　者：刘舒媛[1] 张昌军[2] 司小敏[2] 姚宇峰[1] 史磊[1] 柯金坤[1] 于亮[1] 史荔[1] 杨昭庆[1] 黄小琴[1] 孙浩[1] 褚嘉祐[1] 

机构地区：[1]中国医学科学院北京协和医学院医学生物医学研究所,昆明650118 [2]湖北省十堰市人民医院生殖医学研究中心

出　　处：《中华医学遗传学杂志》2011年第3期270-274,共5页Chinese Journal of Medical Genetics

摘　　要：目的研究磷脂氢谷胱甘肽过氧化酶（phospholipid hydroperoxide glutathione peroxidase,PHGPx或GPx4）基因5’非翻译区（5’untranslated region，5＇-UTR）区单核苷酸多态性（single nucleotide polymorphism，SNP）与寡弱精症男性不育的相关性。方法采用测序的方法，对131例寡弱精症男性不育患者和109名健康已育男性的GPx4基因的5LUTR区域进行测序分析。结果测序结果与美国国立生物技术信息中心数据库对比，发现该区域有9个SNPs（rs757228、rs757229、rs757230、rs4588110、rs3746165、rs3746166、rs34044728、rs757231、rs1808194）位点在所检测的人群中存在多态性分布，但这9个位点的等位基因和基因型频率在病例组和对照组中的差异没有统计学意义。对9个多态位点进行连锁不平衡分析，发现rs757229、rs757230、rs4588110、rs3746165、rs3746166五个位点连锁，对连锁的SNP构建单倍型后发现，单倍型（rs757229-rs757230-rs4588110-rs3746165-rs3746166：c—GGT—A）只在正常对照组中出现，而患者组中没有，该单倍型可能是一种保护性的单倍型。结论GPx4基因5＇-UTR区域的SNPs（rs757228、rs757229、rs757230、rs4588110、rs3746165、rs3746166、rs34044728、rs757231、rs1808194）与寡弱精症男性不育可能不相关，单倍型（rs757229rs757230-rs4588110-rs3746165-rs3746166：C—GGT—A）可能降低男性不育的患病风险。Objective To study the association between the single nucleotide polymorphisms （SNPs） of the 5＇-untranslated region （5＇-UTR） of phospholipid hydroperoxide glutathione peroxidase （GPx4 or PHGPx） gene and oligo- or asthenozoospermie male infertility. Methods The 5＇-UTR region of the GPx4 gene was amplified from infertile men and controls using the polymerase chain reaction and was analyzed for polymorphisms by direct sequencing. Results A total of 9 SNPs were present in the cohort, however there were no significant differences in these 9 SNPs between the case and control groups. According to the results of linkage disequilibrium analysis and haplotype construction, one haplotype（rs757229-rs757230- rs4588110-rs3746165-rs3746166： C-G-G-T-A） was present only in the control men, and significant difference was deteeted（P〈0.01）. Conclusion The SNPs of 5＇-UTR region of the GPx4 gene might not be associated with oligo- or asthenozoospermie male infertility. However, the haplotype （rs757229-rs757230- rs4588110- rs3746165-rs3746166： C-G-G-T-A） might be a protective haplotype.

关 键 词：磷脂氢谷胱甘肽过氧化酶 单核苷酸多态性 寡弱精症男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]