Volume 20, Issue 6 (June 2022)                   IJRM 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. IJRM 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.
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.
4- Department of Genetics, Faculty of Biological Science, Tabriz Branch, Islamic Azad University, Tabriz, Iran.
Abstract:   (907 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
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