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The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis
Polycystic ovary syndrome (PCOS) is the most common endocrinopathies affecting the early reproductive age in women, whose pathophysiology perplexes many researchers till today. This syndrome is classically categorized by hyperandrogenism and/or hyperandrogenemia, menstrual and ovulatory dysfunction,...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466925/ https://www.ncbi.nlm.nih.gov/pubmed/34563259 http://dx.doi.org/10.1186/s13048-021-00879-w |
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author | Chaudhary, Hiral Patel, Jalpa Jain, Nayan K. Joshi, Rushikesh |
author_facet | Chaudhary, Hiral Patel, Jalpa Jain, Nayan K. Joshi, Rushikesh |
author_sort | Chaudhary, Hiral |
collection | PubMed |
description | Polycystic ovary syndrome (PCOS) is the most common endocrinopathies affecting the early reproductive age in women, whose pathophysiology perplexes many researchers till today. This syndrome is classically categorized by hyperandrogenism and/or hyperandrogenemia, menstrual and ovulatory dysfunction, bulky multi follicular ovaries on Ultrasonography (USG), and metabolic abnormalities such as hyperinsulinemia, dyslipidemia, obesity. The etiopathogenesis of PCOS is not fully elucidated, but it seems that the hypothalamus-pituitary-ovarian axis, ovarian, and/or adrenal androgen secretion may contribute to developing the syndrome. Infertility and poor reproductive health in women’s lives are highly associated with elevated levels of androgens. Studies with ovarian theca cells taken from PCOS women have demonstrated increased androgen production due to augmented ovarian steroidogenesis attributed to mainly altered expression of critical enzymes (Cytochrome P450 enzymes: CYP17, CYP21, CYP19, CYP11A) in the steroid hormone biosynthesis pathway. Despite the heterogeneity of PCOS, candidate gene studies are the widely used technique to delineate the genetic variants and analyze for the correlation of androgen biosynthesis pathway and those affecting the secretion or action of insulin with PCOS etiology. Linkage and association studies have predicted the relationship between genetic variants and PCOS risk among families or populations. Several genes have been proposed as playing a role in the etiopathogenesis of PCOS, and the presence of mutations and/or polymorphisms has been discovered, which suggests that PCOS has a vital heritable component. The following review summarizes the influence of polymorphisms in crucial genes of the steroidogenesis pathway leading to intraovarian hyperandrogenism which can result in PCOS. |
format | Online Article Text |
id | pubmed-8466925 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-84669252021-09-27 The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis Chaudhary, Hiral Patel, Jalpa Jain, Nayan K. Joshi, Rushikesh J Ovarian Res Review Polycystic ovary syndrome (PCOS) is the most common endocrinopathies affecting the early reproductive age in women, whose pathophysiology perplexes many researchers till today. This syndrome is classically categorized by hyperandrogenism and/or hyperandrogenemia, menstrual and ovulatory dysfunction, bulky multi follicular ovaries on Ultrasonography (USG), and metabolic abnormalities such as hyperinsulinemia, dyslipidemia, obesity. The etiopathogenesis of PCOS is not fully elucidated, but it seems that the hypothalamus-pituitary-ovarian axis, ovarian, and/or adrenal androgen secretion may contribute to developing the syndrome. Infertility and poor reproductive health in women’s lives are highly associated with elevated levels of androgens. Studies with ovarian theca cells taken from PCOS women have demonstrated increased androgen production due to augmented ovarian steroidogenesis attributed to mainly altered expression of critical enzymes (Cytochrome P450 enzymes: CYP17, CYP21, CYP19, CYP11A) in the steroid hormone biosynthesis pathway. Despite the heterogeneity of PCOS, candidate gene studies are the widely used technique to delineate the genetic variants and analyze for the correlation of androgen biosynthesis pathway and those affecting the secretion or action of insulin with PCOS etiology. Linkage and association studies have predicted the relationship between genetic variants and PCOS risk among families or populations. Several genes have been proposed as playing a role in the etiopathogenesis of PCOS, and the presence of mutations and/or polymorphisms has been discovered, which suggests that PCOS has a vital heritable component. The following review summarizes the influence of polymorphisms in crucial genes of the steroidogenesis pathway leading to intraovarian hyperandrogenism which can result in PCOS. BioMed Central 2021-09-26 /pmc/articles/PMC8466925/ /pubmed/34563259 http://dx.doi.org/10.1186/s13048-021-00879-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Review Chaudhary, Hiral Patel, Jalpa Jain, Nayan K. Joshi, Rushikesh The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
title | The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
title_full | The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
title_fullStr | The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
title_full_unstemmed | The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
title_short | The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
title_sort | role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466925/ https://www.ncbi.nlm.nih.gov/pubmed/34563259 http://dx.doi.org/10.1186/s13048-021-00879-w |
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