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多囊卵巢综合征(PCOS)与不孕相关的 、 及 多态性研究综述:候选易感基因

A Review on , , and Polymorphism Studies: Candidate Susceptibility Genes for Polycystic Ovary Syndrome (PCOS) and Infertility.

机构信息

Department of Obstetrics & Gynaecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran 1417613151, Iran.

出版信息

Genes (Basel). 2022 Feb 5;13(2):302. doi: 10.3390/genes13020302.

Abstract

Polycystic ovary syndrome is a multifactorial condition associated with reproductive and endocrine organs and might cause infertility and metabolic abnormalities in childbearing age. PCOS seems to be a multifactorial disorder resulting from the combination of several genetic and environmental factors. Little research has been conducted to date on the impact of polymorphisms in infertility. We aim to review the appearance of polymorphisms in females of diverse ethnicities and their effect on infertility in the population with polycystic ovary syndrome. There have been numerous reports of the importance of the steroidogenesis pathway and genetic variants in PCOS pathogenesis. The most important genes that play a role in the aetiology of PCOS are , , and . We evaluated the occurrence of polymorphisms in various ethnicities in the , , and genes and their efficacy on increasing PCOS risk with infertility. Our findings revealed that polymorphisms in various ethnicities are associated with the risk of PCOS with infertility. Although conflicting results regarding , , and polymorphisms and their influence on PCOS with infertility have been reported in a small number of papers, the authors feel this may be attributable to the sample size and ethnic composition of the examined populations. In conclusion, our study strongly suggests that the , , and genes might significantly enhance the probability of developing PCOS with infertility.

摘要

多囊卵巢综合征是一种与生殖和内分泌器官相关的多因素疾病,可能导致育龄期妇女不孕和代谢异常。PCOS 似乎是一种多因素疾病,由多种遗传和环境因素共同作用导致。迄今为止,关于不孕不育中多态性的影响,研究甚少。我们旨在综述不同种族女性中多态性的表现及其对多囊卵巢综合征患者不孕的影响。已经有大量报道表明甾体生成途径和遗传变异在 PCOS 发病机制中的重要性。在 PCOS 的发病机制中起重要作用的最重要基因是、和。我们评估了、和基因中各种种族的多态性及其增加伴不孕的 PCOS 风险的功效。我们的研究结果表明,各种种族的多态性与伴不孕的 PCOS 风险相关。尽管少数研究报告了关于、和多态性及其对伴不孕的 PCOS 影响的矛盾结果,但作者认为这可能归因于所检查人群的样本量和种族构成。总之,我们的研究强烈表明、和基因可能显著增加伴不孕的 PCOS 发病的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11e1/8871850/d9c5e96b6e56/genes-13-00302-g001.jpg

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