P-238: Lack of Association of Estrogen Receptor Polymorphisms with Male Infertility

Background: Estrogen is recognized as one of the significant regulator of spermatogenesis. Estrogens are synthesized in the male reproductive system (sertoli and leydig cells). Estrogen function is mediated by estrogen receptors (ER-α or ER-β). Some studies have suggested an association between single nucleotide polymorphisms (SNPs) rs2234693 (ESR1 pvuII C>T), rs1801132 (ESR1 325 C->G) of ERα gene are associated with human spermatogenic defect. Materials and Methods: In a case-control study, including 264 infertile (149 Nonobstractive Azoospermia and 115 oligo- asteno- terato zoospermia) and 90 fertile men, we investigated pvuII C>T and 325 C->G variants. Semen analysis was performed according to WHO. All patients underwent a comprehensive examination; karyotyping and molecular test for Y chromosome microdeletion. All enrolled subjects had a normal karyotype and intact Y chromosome. Polymerase chain reaction was performed on DNA isolated from peripheral blood samples. The rs1801132 (C325G), was detected by sequencing while RFLP was applied to determine rs2234693 (ESR1 pvuII C>T). Statistical analysis was performed by using the Chi-square test. Results: Our results showed that allele frequencies of C and G of rs2234693 were approximately 0.42 and 0.58 in infertile men, respectively, which were similar to fertile group. Allele frequency distribution of rs1801132 (G=0.35 and C=0.65) in our studied population was similar to those observed in the Asian populations (G= 0.50) whereas varied from those in European and American Caucasians (G= 0.05-0.20). Therefore, two studied of SNPs of ESR1 were not significantly associated with semen parameter (sperm concentration, motility and morphology), either by allelic or genotypic frequencies in our population. Conclusion: We found no evidence for association of both Pvu II T/C and C325G polymorphisms with infertility susceptibility. Therefore, the hypothesis that studied estrogen receptor alpha gene variants could influence on semen quality which is not supported by our data.