Association study of novel single nucleotide polymorphisms of androgen receptor and estrogen receptor-α genes with male infertility in Northwest of Iran: A case-control study.

Background

Observational evidence on the association of novel single nucleotide polymorphisms (SNPs) of androgen receptor (AR) and estrogen receptor-α (ER- α ) genes with odds of male infertility are rare. This is particularly relevant in the Iranian population where male infertility is relatively high.

Objective

This study was designed to investigate the relationship between different SNPs of these genes and male infertility among the Iranian population. Materials and

Methods

The present project was a population-based, case-control study conducted on 120 idiopathic azoospermia or severe oligospermia infertile cases alongside 120 age-matched subjects enrolled as controls. Overall, 3 variants from the AR gene and 2 variants from ER- α were genotyped - ARrs137852568, ARrs137852599 and AR rs137852563, and ER- α rs796065354 and ER- α rs104893956- using amplification refractory mutation system methods.

Results

The obtained results indicated a significant association between AR rs1378525568 TT genotype as well as AR rs137852599 C allele with odds of male infertility (OR: 0.433, CI: 0.197-0.951 and OR: 0.545, CI: 0.304-0.978, respectively). Other variants of AR were not related to male infertility. A significant association was noted between predisposition polymorphism ER- α rs796065354 genotypes with male infertility. This significant association was not seen between ER- α rs104893956 and the risk of idiopathic azoospermia or severe oligospermia. Heterozygote overdominance was also observed in ESR rs796065354 but not in the other variants studied.

Conclusion

Pieces of evidence were found on the association of novel polymorphisms of AR and ER- α with male infertility among the Iranian population. However, larger studies are warranted to confirm our findings.Key words: Male infertility, Androgen receptor, Estrogen receptor- α .