• PMID: 25619219
• Gene Name: EPPIN
• Condition: Idiopathic male infertility
• Association: Associated
• Mutation: Eppin(rs6124715, rs2231829, rs2227290 and rs11594)
• Population size: 671
• Population details: 671 (473 confirmed infertile patients, 198 fertile male controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

[The association study between Eppin gene polymorphisms and idiopathic male infertility]

Ding X, Zhang J.

OBJECTIVE: To explore the correlation between four tagSNPs of Eppin gene (rs6124715, rs2231829, rs2227290 and rs11594) and the risk of idiopathic male infertility in the Chinese Han population. METHODS: A total of 473 confirmed infertile patients (from March 2005 to March 2007) and 198 fertile male controls (March 2005 to February 2009) were selected from two hospitals in Nanjing. All the subjects were Han Chinese and came from Nanjing or its surrounding areas. 5 ml peripheral blood was drawn from each subject with informed consent. Four tagSNPs (rs6124715, rs2231829, rs2227290 and rs11594) in Eppin gene were analyzed by the PCR-restriction fragment length polymorphisms (PCR-RFLP) method. The serum testosterone level was evaluated by radioimmunoassay (RIA). RESULTS: The genotype frequencies of AA,AC and CC at rs11594 were 76.3% (361/473), 20.1% (95/473) and 3.6% (17/473) respectively in the case group, while the frequencies in the control group were 75.3% (149/198), 24.2% (48/198), 0.5% (1/198) respectively, the differences were statistically significant (χ² = 7.73, P = 0.021), the CC genotype carriers had an increased risk of male infertility (OR = 7.02, 95% CI:0.93-53.19). In the combined genotype analysis, the haplotype CTGA carriers has significantly lower onset risk (OR = 0.18, 95% CI:0.06-0.53). In the two groups, the frequencies and the risk of male infertility were no statistically significant in rs6124715, rs2231829 and rs2227290 genotype. CONCLUSIONS: The Eppin gene polymorphisms were correlated to the susceptibility to idiopathic male infertility. Among them, CC genotype at rs11594 could increase the risk of idiopathic male infertility. FAU - Ding, Xinliang AU - Ding X AD - Department of Public Health, Wuxi Center for Disease Control and Prevention, Wuxi 214023, China.