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Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population
BACKGROUND: The meiotic program initiation pathway genes (CYP26B1, NANOS1 and STRA8) have been proposed to play key roles in spermatogenesis. OBJECTIVE: To elucidate the exact role of the genetic variants of the meiosis initiation genes in spermatogenesis, we genotyped the potential functional genet...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540065/ https://www.ncbi.nlm.nih.gov/pubmed/23320086 http://dx.doi.org/10.1371/journal.pone.0053443 |
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author | Lu, Chuncheng Xu, Miaofei Wang, Ying Qin, Yufeng Du, Guizhen Wu, Wei Han, Xiumei Ji, Chao Yang, Yanli Gu, Aihua Xia, Yankai Song, Ling Wang, Shoulin Wang, Xinru |
author_facet | Lu, Chuncheng Xu, Miaofei Wang, Ying Qin, Yufeng Du, Guizhen Wu, Wei Han, Xiumei Ji, Chao Yang, Yanli Gu, Aihua Xia, Yankai Song, Ling Wang, Shoulin Wang, Xinru |
author_sort | Lu, Chuncheng |
collection | PubMed |
description | BACKGROUND: The meiotic program initiation pathway genes (CYP26B1, NANOS1 and STRA8) have been proposed to play key roles in spermatogenesis. OBJECTIVE: To elucidate the exact role of the genetic variants of the meiosis initiation genes in spermatogenesis, we genotyped the potential functional genetic variants of CYP26B1, NANOS1 and STRA8 genes, and evaluated their effects on spermatogenesis in our study population. DESIGN, SETTING, AND PARTICIPANTS: In this study, all subjects were volunteers from the affiliated hospitals of Nanjing Medical University between March 2004 and July 2009 (NJMU Infertile Study). Total 719 idiopathic infertile cases were recruited and divided into three groups according to WHO semen parameters: 201 azoospermia patients (no sperm in the ejaculate even after centrifugation), 155 oligozoospermia patients (sperm counts <20×10(6)/ml) and 363 infertility/normozoospermia subjects (sperm counts >20×10(6)/ml). The control group consisted of 383 subjects with normal semen parameters, all of which had fathered at least one child without assisted reproductive technologies. MEASUREMENTS: Eight single nucleotide polymorphisms (SNPs) in CYP26B1, NANOS1 and STRA8 genes were determined by TaqMan allelic discrimination assay in 719 idiopathic infertile men and 383 healthy controls. RESULTS AND LIMITATIONS: The genetic variant rs10269148 of STRA8 gene showed higher risk of spermatogenic impairment in the groups of abnormospermia (including azoospermia subgroup and oligozoospermia subgroup) and azoospermia than the controls with odds ratios and 95% confidence intervals of 2.52 (1.29–4.94) and 2.92 (1.41–6.06), respectively (P = 0.006, 0.002 respective). Notably, larger sample size studies and in vivo or in vitro functional studies are needed to substantiate the biological roles of these variants. CONCLUSIONS: Our results provided epidemiological evidence supporting the involvement of genetic polymorphisms of the meiotic program initiation genes in modifying the risk of azoospermia and oligozoospermia in a Han-Chinese population. |
format | Online Article Text |
id | pubmed-3540065 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-35400652013-01-14 Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population Lu, Chuncheng Xu, Miaofei Wang, Ying Qin, Yufeng Du, Guizhen Wu, Wei Han, Xiumei Ji, Chao Yang, Yanli Gu, Aihua Xia, Yankai Song, Ling Wang, Shoulin Wang, Xinru PLoS One Research Article BACKGROUND: The meiotic program initiation pathway genes (CYP26B1, NANOS1 and STRA8) have been proposed to play key roles in spermatogenesis. OBJECTIVE: To elucidate the exact role of the genetic variants of the meiosis initiation genes in spermatogenesis, we genotyped the potential functional genetic variants of CYP26B1, NANOS1 and STRA8 genes, and evaluated their effects on spermatogenesis in our study population. DESIGN, SETTING, AND PARTICIPANTS: In this study, all subjects were volunteers from the affiliated hospitals of Nanjing Medical University between March 2004 and July 2009 (NJMU Infertile Study). Total 719 idiopathic infertile cases were recruited and divided into three groups according to WHO semen parameters: 201 azoospermia patients (no sperm in the ejaculate even after centrifugation), 155 oligozoospermia patients (sperm counts <20×10(6)/ml) and 363 infertility/normozoospermia subjects (sperm counts >20×10(6)/ml). The control group consisted of 383 subjects with normal semen parameters, all of which had fathered at least one child without assisted reproductive technologies. MEASUREMENTS: Eight single nucleotide polymorphisms (SNPs) in CYP26B1, NANOS1 and STRA8 genes were determined by TaqMan allelic discrimination assay in 719 idiopathic infertile men and 383 healthy controls. RESULTS AND LIMITATIONS: The genetic variant rs10269148 of STRA8 gene showed higher risk of spermatogenic impairment in the groups of abnormospermia (including azoospermia subgroup and oligozoospermia subgroup) and azoospermia than the controls with odds ratios and 95% confidence intervals of 2.52 (1.29–4.94) and 2.92 (1.41–6.06), respectively (P = 0.006, 0.002 respective). Notably, larger sample size studies and in vivo or in vitro functional studies are needed to substantiate the biological roles of these variants. CONCLUSIONS: Our results provided epidemiological evidence supporting the involvement of genetic polymorphisms of the meiotic program initiation genes in modifying the risk of azoospermia and oligozoospermia in a Han-Chinese population. Public Library of Science 2013-01-08 /pmc/articles/PMC3540065/ /pubmed/23320086 http://dx.doi.org/10.1371/journal.pone.0053443 Text en © 2013 Lu et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Lu, Chuncheng Xu, Miaofei Wang, Ying Qin, Yufeng Du, Guizhen Wu, Wei Han, Xiumei Ji, Chao Yang, Yanli Gu, Aihua Xia, Yankai Song, Ling Wang, Shoulin Wang, Xinru Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population |
title | Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population |
title_full | Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population |
title_fullStr | Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population |
title_full_unstemmed | Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population |
title_short | Genetic Variants in Meiotic Program Initiation Pathway Genes Are Associated with Spermatogenic Impairment in a Han Chinese Population |
title_sort | genetic variants in meiotic program initiation pathway genes are associated with spermatogenic impairment in a han chinese population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540065/ https://www.ncbi.nlm.nih.gov/pubmed/23320086 http://dx.doi.org/10.1371/journal.pone.0053443 |
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