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New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men

BACKGROUND: Male infertility is a multifactorial disorder, which affects approximately 10% of couples at childbearing age with substantial clinical and social impact. Genetic factors are associated with the susceptibility to spermatogenic impairment in humans. Recently, SEPT12 is reported as a criti...

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Autores principales: Shahhoseini, Maryam, Azad, Mahnaz, Sabbaghian, Marjan, Shafipour, Maryam, Akhoond, Mohammad Reza, Salman-Yazdi, Reza, Sadighi Gilani, Mohammad Ali, Gourabi, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research and Clinical Center for Infertility 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4637115/
https://www.ncbi.nlm.nih.gov/pubmed/26568753
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author Shahhoseini, Maryam
Azad, Mahnaz
Sabbaghian, Marjan
Shafipour, Maryam
Akhoond, Mohammad Reza
Salman-Yazdi, Reza
Sadighi Gilani, Mohammad Ali
Gourabi, Hamid
author_facet Shahhoseini, Maryam
Azad, Mahnaz
Sabbaghian, Marjan
Shafipour, Maryam
Akhoond, Mohammad Reza
Salman-Yazdi, Reza
Sadighi Gilani, Mohammad Ali
Gourabi, Hamid
author_sort Shahhoseini, Maryam
collection PubMed
description BACKGROUND: Male infertility is a multifactorial disorder, which affects approximately 10% of couples at childbearing age with substantial clinical and social impact. Genetic factors are associated with the susceptibility to spermatogenic impairment in humans. Recently, SEPT12 is reported as a critical gene for spermatogenesis. This gene encodes a testis specific member of Septin proteins, a family of polymerizing GTP-binding proteins. SEPT12 in association with other Septins is an essential annulus component in mature sperm. So, it is hypothesized that genetic alterations of SEPT12 may be concerned in male infertility. OBJECTIVE: The objective of this research is exploration of new single nucleotide polymorphism G5508A in the SEPT12 gene association with idiopathic male infertility in Iranian men. MATERIALS AND METHODS: In this case control study, 67 infertile men and 100 normal controls were analyzed for genetic alterations in the active site coding region of SEPT12, using polymerase chain reaction sequencing technique. Fisher exact test was used for statistical analysis and p<0.05 was considered as statistically significant. RESULTS: Genotype analysis indicated that G5508A polymorphic SEPT12 alleles were distributed in three peaks of frequency in both control and diseases groups. Categorization of the alleles into (GG), (GA), (AA) types revealed a significant difference between infertile patients (azoospermic and asthenospermic) and normal controls (p=0.005). CONCLUSION: According to our finding we suggest that G5508A polymorphism in SEPT12 gene can affect spermatogenesis in men, the opinion needs more investigation in different populations.
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spelling pubmed-46371152015-11-13 New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men Shahhoseini, Maryam Azad, Mahnaz Sabbaghian, Marjan Shafipour, Maryam Akhoond, Mohammad Reza Salman-Yazdi, Reza Sadighi Gilani, Mohammad Ali Gourabi, Hamid Iran J Reprod Med Original Article BACKGROUND: Male infertility is a multifactorial disorder, which affects approximately 10% of couples at childbearing age with substantial clinical and social impact. Genetic factors are associated with the susceptibility to spermatogenic impairment in humans. Recently, SEPT12 is reported as a critical gene for spermatogenesis. This gene encodes a testis specific member of Septin proteins, a family of polymerizing GTP-binding proteins. SEPT12 in association with other Septins is an essential annulus component in mature sperm. So, it is hypothesized that genetic alterations of SEPT12 may be concerned in male infertility. OBJECTIVE: The objective of this research is exploration of new single nucleotide polymorphism G5508A in the SEPT12 gene association with idiopathic male infertility in Iranian men. MATERIALS AND METHODS: In this case control study, 67 infertile men and 100 normal controls were analyzed for genetic alterations in the active site coding region of SEPT12, using polymerase chain reaction sequencing technique. Fisher exact test was used for statistical analysis and p<0.05 was considered as statistically significant. RESULTS: Genotype analysis indicated that G5508A polymorphic SEPT12 alleles were distributed in three peaks of frequency in both control and diseases groups. Categorization of the alleles into (GG), (GA), (AA) types revealed a significant difference between infertile patients (azoospermic and asthenospermic) and normal controls (p=0.005). CONCLUSION: According to our finding we suggest that G5508A polymorphism in SEPT12 gene can affect spermatogenesis in men, the opinion needs more investigation in different populations. Research and Clinical Center for Infertility 2015-08 /pmc/articles/PMC4637115/ /pubmed/26568753 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Shahhoseini, Maryam
Azad, Mahnaz
Sabbaghian, Marjan
Shafipour, Maryam
Akhoond, Mohammad Reza
Salman-Yazdi, Reza
Sadighi Gilani, Mohammad Ali
Gourabi, Hamid
New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men
title New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men
title_full New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men
title_fullStr New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men
title_full_unstemmed New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men
title_short New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men
title_sort new single nucleotide polymorphism g5508a in the sept12 gene may be associated with idiopathic male infertility in iranian men
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4637115/
https://www.ncbi.nlm.nih.gov/pubmed/26568753
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