Volume 20, Issue 6 (June 2022)                   Int J Reprod BioMed. 2022, 20(6): 501-510 | Back to browse issues page

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Ghadirkhomi E, Angaji S A, Khosravi M, Mashayekhi M R. Association study of novel single nucleotide polymorphisms of androgen receptor and estrogen receptor-α genes with male infertility in North West of Iran: a case- control study. Int J Reprod BioMed. 2022; 20 (6) :501-510
URL: http://ijrm.ir/article-1-2184-en.html
Association study of novel single nucleotide polymorphisms of androgen receptor and estrogen receptor-α genes with male infertility in North West of Iran: a case- control study
Elham Ghadirkhomi1 , Seyed Abdolhamid Angaji *2 , Maryam Khosravi3 , Mohammad Reza Mashayekhi4
1- Department of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran., Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Mofateh Ave., Tehran, Iran. Postal code: 1913713515
2- Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran. , vo83ge@yahoo.com
3- Department of Biology, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran., Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Mofateh Ave., Tehran, Iran. Postal code: 1913713515
4- Department of Genetics, Faculty of Biological Science, Tabriz Branch, Islamic Azad University, Tabriz, Iran., Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Mofateh Ave., Tehran, Iran. Postal code: 1913713515
Abstract:   (2572 Views)
Background: Observational evidence on the association of novel single nucleotide polymorphism (SNPs) of androgen receptor (AR) and estrogen receptor-α (ER-α) genes with odds of male infertility are rare. This is particularly relevant in 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 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-αrs104893956- using amplification refractory mutation system methods.
Results: 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 foundon 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.
Keywords: Male infertility, Androgen receptor, Estrogen receptor-α.
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Type of Study: Original Article | Subject: Reproductive Urology
* Corresponding Author Address: Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Mofateh Ave., Tehran, Iran. Postal code: 1913713515
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