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

Observational evidence on the association of novel single nucleotide polymorphisms (SNPs) of androgen receptor and estrogen receptor-α genes with odds of male infertility are rare. This is particularly relevant in the Iranian population where male infertility is relatively high. This study was designed to investigate the relationship between different SNPs of these genes and male infertility among the Iranian population. 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 gene and 2 variants from were genotyped - , and and and using amplification refractory mutation system methods. The obtained results indicated a significant association between TT genotype as well as 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 were not related to male infertility. A significant association was noted between predisposition polymorphism genotypes with male infertility. This significant association was not seen between and the risk of idiopathic azoospermia or severe oligospermia. Heterozygote overdominance was also observed in but not in the other variants studied. Pieces of evidence were found on the association of novel polymorphisms of and with male infertility among the Iranian population. However, larger studies are warranted to confirm our findings.