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
Publish Year: 1401
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_IJRM-20-6_008
تاریخ نمایه سازی: 4 مرداد 1401
Abstract:
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 ۱۲۰ idiopathic azoospermia or severe oligospermia infertile cases alongside ۱۲۰ age-matched subjects enrolled as controls. Overall, ۳ variants from the AR gene and ۲ variants from ER-α were genotyped - ARrs۱۳۷۸۵۲۵۶۸, ARrs۱۳۷۸۵۲۵۹۹, and AR rs۱۳۷۸۵۲۵۶۳ and ER-α rs۷۹۶۰۶۵۳۵۴, and ER-αrs۱۰۴۸۹۳۹۵۶- using amplification refractory mutation system methods.
Results: Obtained results indicated a significant association between AR rs۱۳۷۸۵۲۵۵۶۸ TT genotype as well as AR rs۱۳۷۸۵۲۵۹۹ C allele with odds of male infertility (OR: ۰.۴۳۳, CI: ۰.۱۹۷-۰.۹۵۱ and OR: ۰.۵۴۵, CI: ۰.۳۰۴-۰.۹۷۸, respectively). Other variants of AR were not related to male infertility. A significant association was noted between predisposition polymorphism ER-α rs۷۹۶۰۶۵۳۵۴ genotypes with male infertility. This significant association was not seen between ER-α rs۱۰۴۸۹۳۹۵۶ and the risk of idiopathic azoospermia or severe oligospermia. Heterozygote overdominance was also observed in ESR rs۷۹۶۰۶۵۳۵۴ 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:
Authors
Elham Ghadirkhomi
Department of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Seyed Abdolhamid Angaji
Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran.
Maryam Khosravi
Department of Biology, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Mohammad Reza Mashayekhi
Department of Genetics, Faculty of Biological Science, Tabriz Branch, Islamic Azad University, Tabriz, Iran.
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