Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China.
Hum Reprod. 2010 Jul;25(7):1657-65. doi: 10.1093/humrep/deq119. Epub 2010 May 19.
It has been identified that human epididymal protease inhibitor (EPPIN) plays a critical role in sperm function and male fertility. The aim of this study was to determine whether variants of the EPPIN gene are risk factors for idiopathic male infertility.
All subjects, including 473 idiopathic infertile men and 198 fertile controls, underwent complete historical and physical examinations. Each subject donated 5 ml of peripheral blood for genomic DNA extraction and serum testosterone evaluation and an ejaculate for semen analysis. The semen analysis was performed by computer-assisted semen analysis system. The serum testosterone level was evaluated by radioimmunoassay. Four tagging single-nucleotide polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism.
We have demonstrated a significant decreased risk of idiopathic infertility with abnormal semen parameters in association with the variant rs2231829, and an increased risk of idiopathic infertility with abnormal semen parameters in association with the variant rs11594. However, among men with normal semen parameters, there were no differences in risk for these genotypes. Furthermore, no significant differences were found for the other variants, rs6124715 and rs2227290, on the risk of male infertility with normal or abnormal semen parameters. Similar serum testosterone levels among different EPPIN genotypes were observed for each group.
These results suggest that different variants in the EPPIN gene may have different relationships with idiopathic male infertility and men carrying these variants have a decreased or increased risk of abnormal semen parameters associated with male infertility.
人类附睾蛋白酶抑制剂（EPPIN）在精子功能和男性生育力中起着关键作用。本研究旨在确定 EPPIN 基因的变体是否是特发性男性不育的危险因素。
所有受试者，包括 473 名特发性不育男性和 198 名生育力正常的对照者，均接受了完整的病史和体格检查。每位受试者捐献 5ml 外周血用于基因组 DNA 提取和血清睾酮评估，以及精液分析用的精液。精液分析采用计算机辅助精液分析系统进行。血清睾酮水平通过放射免疫测定法进行评估。通过聚合酶链反应-限制性片段长度多态性分析了四个标记单核苷酸多态性。
我们已经证明，与变体 rs2231829 相关的具有异常精液参数的特发性不育的风险显著降低，与变体 rs11594 相关的具有异常精液参数的特发性不育的风险增加。然而，在具有正常精液参数的男性中，这些基因型的风险没有差异。此外，对于其他变体 rs6124715 和 rs2227290，在具有正常或异常精液参数的男性不育风险方面没有发现显著差异。在每个组中，不同 EPPIN 基因型的血清睾酮水平相似。
这些结果表明，EPPIN 基因的不同变体可能与特发性男性不育有不同的关系，携带这些变体的男性发生与男性不育相关的异常精液参数的风险降低或增加。
