Abstract: Objective：To explore the association of single nucleotide polymorphism (SNP) of estrogen receptor α (ERα) gene with male infertility in Chinese Zhuang population. SNPs of PvuⅡ and XbaⅠ in ERα gene were checked as targets. Methods：A total of 96 infertile men were recruited as the observation group, and 76 fertile men as the control group. After routine semen analysis, the restricted enzyme digestion and DNA direct sequencing of PvuⅡ and XbaⅠ in ERα gene were performed. Results：The XbaⅠallele frequency and genotype distributions were significantly different between the control group and the observation group (all P＜0.05). Genetic model analysis showed that the ERα gene XbaⅠ were significantly different between the two groups under codominant (CC vs. TT) and recessive genetic model (both P＜0.05). Subjects carrying the T allele frequency of XbaⅠ had the decreased risk of infertility compared to the subjects carrying the G allele frequency. However, the SNPs of ERα gene Pvu Ⅱ did not show the correlation with male infertility. Conclusions：We concluded that in this study ERα XbaⅠ polymorphism was associated with male infertility.

Key words:  Estrogen receptor alpha, Polymorphism, restriction fragment length, Infertility, male, Genetic predisposition to disease