{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T20:58:06Z","timestamp":1780433886493,"version":"3.54.1"},"reference-count":26,"publisher":"Knowledge E DMCC","issue":"6","content-domain":{"domain":["knepublishing.com"],"crossmark-restriction":true},"short-container-title":["IJRM"],"abstract":"<jats:p>Background: Observational evidence on the association of novel single nucleotide polymorphisms (SNPs) of androgen receptor (AR) and estrogen receptor-\u03b1 (ER-\u03b1) genes with odds of male infertility are rare. This is particularly relevant in the Iranian population where male infertility is relatively high.\r\nObjective: This study was designed to investigate the relationship between different SNPs of these genes and male infertility among the Iranian population.\r\nMaterials 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-\u03b1 were genotyped - AR rs137852568, AR rs137852599 and AR rs137852563, and ER-\u03b1 rs796065354 and ER-\u03b1 rs104893956 - using amplification refractory mutation system methods.\r\nResults: 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-\u03b1 rs796065354 genotypes with male infertility. This significant association was not seen between ER-\u03b1 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.\r\nConclusion: Pieces of evidence were found on the association of novel polymorphisms of AR and ER-\u03b1 with male infertility among the Iranian population. However, larger studies are warranted to confirm our findings.\r\nKey words: Male infertility, Androgen receptor, Estrogen receptor-\u03b1.<\/jats:p>","DOI":"10.18502\/ijrm.v20i6.11446","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T06:03:11Z","timestamp":1657519391000},"page":"501-510","update-policy":"https:\/\/doi.org\/10.18502\/knecrossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Association study of novel single nucleotide polymorphisms of androgen receptor and estrogen receptor-\u03b1 genes with male infertility in Northwest of Iran: A case-control study"],"prefix":"10.18502","volume":"20","author":[{"given":"Elham","family":"Ghadirkhomi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed","family":"Abdolhamid Angaji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Khosravi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Reza Mashayekhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7770","published-online":{"date-parts":[[2022,7,6]]},"reference":[{"key":"137425","doi-asserted-by":"crossref","unstructured":"Parsanezhad ME, Namavar Jahromi B, Zare N, Keramati P, Khalili A, Parsa-Nezhad M. Epidemiology and etiology of infertility in Iran: Systematic review and meta-analysis. J Womens Health, Issues Care, 2013; 2: 6.","DOI":"10.4172\/2325-9795.1000121"},{"key":"137426","unstructured":"Akhondi MM, Ranjbar F, Shirzad M, Behjati Ardakani Z, Kamali K, Mohammad K. Practical difficulties in estimating the prevalence of primary infertility in Iran. Int J Fertil Steril 2019; 13: 113\u2013117."},{"key":"137427","doi-asserted-by":"crossref","unstructured":"Sen S, Dixit A, Thakur Ch, Gokral J, Hinduja I, Zaveri K, et al. Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI. J Assist Reprodu Genet 2013; 30: 1133\u20131139.","DOI":"10.1007\/s10815-013-0074-2"},{"key":"137428","doi-asserted-by":"crossref","unstructured":"O\u2019Hara L, Smith LB. Androgen receptor roles in spermatogenesis and infertility. Best Pract Res Clin Endocrinol Metab 2015; 29: 595\u2013605.","DOI":"10.1016\/j.beem.2015.04.006"},{"key":"137429","doi-asserted-by":"crossref","unstructured":"O\u2019Hara L, Smith LB. The genetics of androgen receptor signalling in male fertility. In: Voght PH. Genetics of human infertility. New Yok: Karger Publishers; 2017: 86\u2013100.","DOI":"10.1159\/000477280"},{"key":"137430","doi-asserted-by":"crossref","unstructured":"Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK. Male infertility and variation in CAG repeat length in the androgen receptor gene: A meta-analysis. J Clin Endocrinol Metab 2007; 92: 4319\u20134326.","DOI":"10.1210\/jc.2007-1110"},{"key":"137431","doi-asserted-by":"crossref","unstructured":"Xiao F, Lan A, Lin Zh, Song J, Zhang Y, Li J, et al. Impact of CAG repeat length in the androgen receptor gene on male infertility: A meta-analysis. Reprod Biomed Online 2016; 33: 39\u201349.","DOI":"10.1016\/j.rbmo.2016.03.012"},{"key":"137432","doi-asserted-by":"crossref","unstructured":"Pan B, Li R, Chen Y, Tang Q, Wu W, Chen L, et al. Genetic association between androgen receptor gene CAG repeat length polymorphism and male infertility: A meta-analysis. Medicine 2016; 95: e2878.","DOI":"10.1097\/MD.0000000000002878"},{"key":"137433","unstructured":"Mobasseri N, Babaei F, Karimian M, Nikzad H. Androgen receptor (AR)-CAG trinucleotide repeat length and idiopathic male infertility: A case-control trial and a meta-analysis. EXCLI J 2018; 17: 1167\u20131179."},{"key":"137434","doi-asserted-by":"crossref","unstructured":"Cerv\u00e1n-Mart\u00edn M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the clinic. J Clin Med 2020; 9: 300.","DOI":"10.3390\/jcm9020300"},{"key":"137435","unstructured":"Rivera-Diaz PA, Patricia Ortiz C, Ricardo Delgado D. The crucial role of estrogen\/androgen hormones and their receptors in male infertility risk. Central Asian J Med Pharm Sci Innovat 2021; 1: 35\u201343."},{"key":"137436","unstructured":"Moghadam M, Khatami SR, Galehdari H. Association of androgen receptor GGN repeat length polymorphism and male infertility in Khuzestan, Iran. Iran J Reprod Med 2015; 13: 305\u2013310."},{"key":"137437","doi-asserted-by":"crossref","unstructured":"Nemati H, Sadeghi M, Nazeri M, Mohammadi M. Evaluation of the association between polymorphisms of PRM1 and PRM2 and the risk of male infertility: A systematic review, meta-analysis, and meta-regression. Sci Rep 2020; 10: 17228.","DOI":"10.1038\/s41598-020-74233-3"},{"key":"137438","doi-asserted-by":"crossref","unstructured":"Andrade DL, Viana MC, Esteves SC. Differential diagnosis of azoospermia in men with infertility. J Clin Med 2021; 10: 3144.","DOI":"10.3390\/jcm10143144"},{"key":"137439","doi-asserted-by":"crossref","unstructured":"Zalata A, Abdalla HA, El-Bayoumy Y, Mostafa T. Oestrogen receptor alpha gene polymorphisms relationship with semen variables in infertile men. Andrologia 2014; 46: 618\u2013624.","DOI":"10.1111\/and.12123"},{"key":"137440","doi-asserted-by":"crossref","unstructured":"Tournaye H, Krausz C, Oates RD. Novel concepts in the aetiology of male reproductive impairment. Lancet Diabetes Endocrinol 2017; 5: 544\u2013553.","DOI":"10.1016\/S2213-8587(16)30040-7"},{"key":"137441","doi-asserted-by":"crossref","unstructured":"Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab 2015; 29: 569\u2013580.","DOI":"10.1016\/j.beem.2015.04.005"},{"key":"137442","doi-asserted-by":"crossref","unstructured":"Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C. 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Human sperm physiology: Estrogen receptor alpha (ER\u03b1) and estrogen receptor beta (ER\u03b2) influence sperm metabolism and may be involved in the pathophysiology of varicocele-associated male infertility. J Cell Physiol 2011; 226: 3403\u20133412.","DOI":"10.1002\/jcp.22703"},{"key":"137446","doi-asserted-by":"crossref","unstructured":"Fern\u00e1ndez R, Delgado-Zayas E, Ram\u00edrez K, Cort\u00e9s- Cort\u00e9s J, G\u00f3mez-Gil E, Esteva E, et al. Analysis of four polymorphisms located at the promoter of the estrogen receptor Alpha ESR1 gene in a population with gender incongruence. Sex Med 2020; 8: 490\u2013500.","DOI":"10.1016\/j.esxm.2020.04.002"},{"key":"137447","unstructured":"Liaqat S, Hasnain Sh, Muzammil S, Hayat S. Polymorphism analysis in estrogen receptors alpha and beta genes and their association with infertile population in Pakistan. 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