@article{Ghadirkhomi_Abdolhamid Angaji_Khosravi_Reza Mashayekhi_2022, title={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}, volume={20}, url={https://knepublishing.com/index.php/ijrm/article/view/11446}, DOI={10.18502/ijrm.v20i6.11446}, abstractNote={<p><strong>Background:</strong> Observational evidence on the association of novel single nucleotide polymorphisms (SNPs) of androgen receptor (<em>AR</em>) and estrogen receptor-α (<em>ER-α</em>) genes with odds of male infertility are rare. This is particularly relevant in the Iranian population where male infertility is relatively high.</p> <p><strong>Objective:</strong> This study was designed to investigate the relationship between different SNPs of these genes and male infertility among the Iranian population.</p> <p><strong>Materials and Methods:</strong> 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 <em>AR</em> gene and 2 variants from <em>ER-α</em> were genotyped - <em>AR rs137852568</em>, <em>AR rs137852599</em> and <em>AR rs137852563</em>, and <em>ER-α rs796065354</em> and <em>ER-α rs104893956</em> - using amplification refractory mutation system methods.</p> <p><strong>Results:</strong> The obtained results indicated a significant association between <em>AR rs1378525568</em> TT genotype as well as <em>AR rs137852599</em> 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 <em>AR</em> were not related to male infertility. A significant association was noted between predisposition polymorphism <em>ER-α rs796065354</em> genotypes with male infertility. This significant association was not seen between <em>ER-α rs104893956</em> and the risk of idiopathic azoospermia or severe oligospermia. Heterozygote overdominance was also observed in <em>ESR rs796065354</em> but not in the other variants studied.</p> <p><strong>Conclusion:</strong> Pieces of evidence were found on the association of novel polymorphisms of <em>AR</em> and <em>ER-α</em> with male infertility among the Iranian population. However, larger studies are warranted to confirm our findings.</p> <p><em><strong>Key words:</strong> Male infertility, Androgen receptor, Estrogen receptor-α.</em></p&gt;}, number={6}, journal={International Journal of Reproductive BioMedicine (IJRM)}, author={Ghadirkhomi, Elham and Abdolhamid Angaji, Seyed and Khosravi, Maryam and Reza Mashayekhi, Mohammad}, year={2022}, month={Jul.}, pages={501-510} }