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Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran

BACKGROUND: Infertility is a global health problem caused by various environmental and genetic factors. Male infertility accounts for 40–50% of all cases of infertility and approximately half of them are grouped as idiopathic with no definitive causes. Previous studies have suggested an association...

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Autores principales: Ghadirkhomi, Elham, Angaji, Seyed Abdolhamid, Khosravi, Maryam, Mashayekhi, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669412/
https://www.ncbi.nlm.nih.gov/pubmed/34987987
http://dx.doi.org/10.18502/jri.v22i4.7651
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author Ghadirkhomi, Elham
Angaji, Seyed Abdolhamid
Khosravi, Maryam
Mashayekhi, Mohammad Reza
author_facet Ghadirkhomi, Elham
Angaji, Seyed Abdolhamid
Khosravi, Maryam
Mashayekhi, Mohammad Reza
author_sort Ghadirkhomi, Elham
collection PubMed
description BACKGROUND: Infertility is a global health problem caused by various environmental and genetic factors. Male infertility accounts for 40–50% of all cases of infertility and approximately half of them are grouped as idiopathic with no definitive causes. Previous studies have suggested an association between some SNPs and infertility in men. In this study, an attempt was made to investigate the association of 7 different SNPs of 4 genes involved in common cell functions with male infertility. METHODS: MTHFR rs1801131 (T>G), MTHFR rs2274976 (G>A), FASLG rs80358238 (A>G), FASLG rs12079514 (A>C), GSTM1 rs1192077068 (G>A), BRCA2 rs4987117 (C>T), and BRCA2 rs11571833 (A>T) were genotyped in 120 infertile men with idiopathic azoospermia or severe oligospermia and 120 proven fertile controls using ARMS-PCR methods. Next, 30% of SNPs were regenotyped to confirm the results. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using SPSS statistical software to evaluate the strength of association. The p<0.05 were considered statistically significant. RESULTS: Statistical analysis revealed significant association between MTHFR rs-2274976 AA variant (OR: 10.00, CI: 3.203–31.225), FASLG rs12079514 AC variant (OR: 0.412, CI: 0.212–0.800), and BRCA2 rs11571833 TT variant OR: 6.233, CI: 3.211–12.101) with male infertility, but there was no significant difference between case and control groups in MTHFR rs1801131 (p= 0.111), GSTM1 rs1192077068 (p=0.272), BRCA2 rs4987117 (p=0.221), and FASLG rs80358238 (p=0.161). CONCLUSION: Our findings suggested that some novel polymorphisms including MTHFR rs2274976, FASLG rs12079514, and BRCA2 rs11571833 might be the possible predisposing risk factors for male infertility in cases with idiopathic azoospermia.
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spelling pubmed-86694122022-01-04 Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran Ghadirkhomi, Elham Angaji, Seyed Abdolhamid Khosravi, Maryam Mashayekhi, Mohammad Reza J Reprod Infertil Original Article BACKGROUND: Infertility is a global health problem caused by various environmental and genetic factors. Male infertility accounts for 40–50% of all cases of infertility and approximately half of them are grouped as idiopathic with no definitive causes. Previous studies have suggested an association between some SNPs and infertility in men. In this study, an attempt was made to investigate the association of 7 different SNPs of 4 genes involved in common cell functions with male infertility. METHODS: MTHFR rs1801131 (T>G), MTHFR rs2274976 (G>A), FASLG rs80358238 (A>G), FASLG rs12079514 (A>C), GSTM1 rs1192077068 (G>A), BRCA2 rs4987117 (C>T), and BRCA2 rs11571833 (A>T) were genotyped in 120 infertile men with idiopathic azoospermia or severe oligospermia and 120 proven fertile controls using ARMS-PCR methods. Next, 30% of SNPs were regenotyped to confirm the results. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using SPSS statistical software to evaluate the strength of association. The p<0.05 were considered statistically significant. RESULTS: Statistical analysis revealed significant association between MTHFR rs-2274976 AA variant (OR: 10.00, CI: 3.203–31.225), FASLG rs12079514 AC variant (OR: 0.412, CI: 0.212–0.800), and BRCA2 rs11571833 TT variant OR: 6.233, CI: 3.211–12.101) with male infertility, but there was no significant difference between case and control groups in MTHFR rs1801131 (p= 0.111), GSTM1 rs1192077068 (p=0.272), BRCA2 rs4987117 (p=0.221), and FASLG rs80358238 (p=0.161). CONCLUSION: Our findings suggested that some novel polymorphisms including MTHFR rs2274976, FASLG rs12079514, and BRCA2 rs11571833 might be the possible predisposing risk factors for male infertility in cases with idiopathic azoospermia. Avicenna Research Institute 2021 /pmc/articles/PMC8669412/ /pubmed/34987987 http://dx.doi.org/10.18502/jri.v22i4.7651 Text en Copyright© 2021, Avicenna Research Institute. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/)
spellingShingle Original Article
Ghadirkhomi, Elham
Angaji, Seyed Abdolhamid
Khosravi, Maryam
Mashayekhi, Mohammad Reza
Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran
title Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran
title_full Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran
title_fullStr Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran
title_full_unstemmed Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran
title_short Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran
title_sort association of novel single nucleotide polymorphisms of genes involved in cell functions with male infertility: a study of male cases in northwest iran
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669412/
https://www.ncbi.nlm.nih.gov/pubmed/34987987
http://dx.doi.org/10.18502/jri.v22i4.7651
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