转录因子Ets差异基因5(ETV5)基因多态性与非梗阻性无精子症相关性研究  

Relationship of Ets Variant Gene 5 (ETV5) Gene Variants with Non-obstructive Azoospermia in Chinese Population

作　　者：宋兵[1] 贺小进[1] 姚嗣会 杜卫东[3] 张妍[3] 阮健[3] 吴欢[1] 查醒 周伏圣[3] 曹云霞[1] 

机构地区：[1]安徽医科大学第一附属医院生殖医学中心,合肥230022 [2]安徽省庐江县中医院普外科,庐江231500 [3]安徽医科大学省部共建重要遗传病基因资源利用重点实验室,合肥230022

出　　处：《生殖与避孕》2014年第3期187-192,共6页Reproduction and Contraception

基　　金：国家自然基金项目;项目编号:81300538

摘　　要：目的:探讨转录因子Ets差异基因5(ETV5)基因多态性与非梗阻性无精子症的易感性的相关性。方法:应用Sequenom MassArray质谱阵列技术对368例已生育的汉族男性人群(对照组)和361例汉族男性非梗阻性无精子症(病例组)ETV5基因的5个标签单核苷酸多态(single nucleotide polymorphism,SNP)位点(rs12631658,rs6444106,rs7430047,rs7433760,rs9824882)进行基因型检测。应用Plink1.07软件对数据资料进行统计分析,比较对照组与病例组最小等位基因频率(MAF)及基因型差异,运用Haploview软件对ETV5基因进行单体型分析。结果:ETV5基因5个标签SNP的等位基因频率、基因型分布组间比较均无统计学差异(P>0.05),进一步的单体型分析亦未显示有统计学差异(P>0.05)。结论:ETV5基因5个标签SNP位点多态性与汉族男性非梗阻性无精子症的发生可能不相关。Objective： To investigate the relationship of Ets variant gene 5 （ETV5） gene polymorphism with the risk of non-obstructive azoospermia （NOA） in Chinese population. Methods： A total of 361 cases with idiopathic NOA, and 368 fertile controls were selected. This study genotyped 5 single-nucleotide polymorphisms （SNPs） （rs12631658, rs6444106, rs7430047, rs7433760, rs9824882） in ETV5 using Sequenom iplex. Allele frequencies and genotype analysis between control group and case group were compared by using Plink 1.07 software. Haplotype analysis was studied by Haploview Software. Results： The allele frequencies of the 5 SNPs were not statistically different between case group and control group as well as the genotype distribution （P〉0.05）. Similarly, no difference was observed between case group and control group in haplotype analysis （P〉0.05）. Conclusion： The five SNPs of ETV5 may not be associated with NOA in Chinese population.

关 键 词：不育症 非梗阻性无精子症(NOA) ETV5基因 单核苷酸多态性(SNP) 

分 类 号：R698.2[医药卫生—泌尿科学]