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基因多态性与多囊卵巢综合征的关联:一项荟萃分析。

Association of Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-analysis.

作者信息

Abinaya G P, Iyshwarya B K, Veerabathiran Ramakrishnan

机构信息

Human Cytogenetics and Genomics Laboratory, Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, Tamil Nadu, India.

出版信息

Gynecol Minim Invasive Ther. 2024 Sep 6;13(4):232-240. doi: 10.4103/gmit.gmit_106_23. eCollection 2024 Oct-Dec.

DOI:10.4103/gmit.gmit_106_23
PMID:39660240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11626897/
Abstract

OBJECTIVES

Polycystic ovary syndrome (PCOS) is a prevalent endocrine-metabolic disorder affecting reproductive-aged women. Genetic factors play a significant role in its development. This meta-analysis assesses the associations between specific gene polymorphisms (Vitamin D receptor [VDR] and adiponectin [ADIPOQ]) and PCOS susceptibility.

MATERIALS AND METHODS

We conducted a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, Collecting data from published articles between 2013 to 2013. Eligible studies were selected based on inclusion and exclusion criteria, with quality assessment performed using the Newcastle-Ottawa scale. Data were extracted, and statistical analyses included odds ratios with 95% confidence intervals for gene polymorphisms. Heterogeneity was evaluated using tests, and publication bias was assessed using Begg's and Egger's tests.

RESULTS

A total of 33 articles involving 5677 cases and 5257 controls were included in the analysis. Significant associations were observed for VDR TaqI rs731236 polymorphism in the dominant and recessive models and VDR BsmI rs1544410 polymorphism in the dominant and recessive models. For ADIPOQ T45G rs2241766, a significant association was found in the heterozygous model. The results did not reveal any significant associations for ADIPOQ G276T rs1501299.

CONCLUSION

This meta-analysis suggests associations between specific gene polymorphisms (VDR and ADIPOQ) and PCOS susceptibility. Further research is needed to validate these findings and unravel the complex genetic factors contributing to PCOS, potentially leading to improved diagnostic and therapeutic strategies.

摘要

目的

多囊卵巢综合征(PCOS)是一种影响育龄女性的常见内分泌代谢紊乱疾病。遗传因素在其发病过程中起重要作用。本荟萃分析评估特定基因多态性(维生素D受体[VDR]和脂联素[ADIPOQ])与PCOS易感性之间的关联。

材料与方法

我们按照系统评价和荟萃分析的首选报告项目指南进行系统评价,收集2013年至2013年发表文章中的数据。根据纳入和排除标准选择符合条件的研究,使用纽卡斯尔-渥太华量表进行质量评估。提取数据,统计分析包括基因多态性的比值比及其95%置信区间。使用 检验评估异质性,使用Begg检验和Egger检验评估发表偏倚。

结果

分析共纳入33篇文章,涉及5677例病例和5257例对照。在显性和隐性模型中观察到VDR TaqI rs731236多态性以及在显性和隐性模型中VDR BsmI rs1544410多态性存在显著关联。对于ADIPOQ T45G rs2241766,在杂合子模型中发现显著关联。结果未显示ADIPOQ G276T rs1501299有任何显著关联。

结论

本荟萃分析表明特定基因多态性(VDR和ADIPOQ)与PCOS易感性之间存在关联。需要进一步研究来验证这些发现,并阐明导致PCOS的复杂遗传因素,这可能会带来改进的诊断和治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/d8f85e30a6bd/GMIT-13-232-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/a5bea0a7e1bf/GMIT-13-232-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/47ade9e06ca6/GMIT-13-232-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/f3e250106720/GMIT-13-232-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/b41e6125aec6/GMIT-13-232-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/d8f85e30a6bd/GMIT-13-232-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/a5bea0a7e1bf/GMIT-13-232-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/47ade9e06ca6/GMIT-13-232-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/f3e250106720/GMIT-13-232-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/b41e6125aec6/GMIT-13-232-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0446/11626897/d8f85e30a6bd/GMIT-13-232-g005.jpg

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本文引用的文献

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Association Between Follicle-Stimulating Hormone Receptor (FSHR) rs6166 and Estrogen Receptor 1 (ESR1) rs2234693 Polymorphisms and Polycystic Ovary Syndrome Risk, Phenotype, and Reproductive Outcomes in an Infertile Portuguese Population.卵泡刺激素受体(FSHR)rs6166和雌激素受体1(ESR1)rs2234693基因多态性与葡萄牙不育人群多囊卵巢综合征风险、表型及生殖结局的关联
Cureus. 2023 Mar 2;15(3):e35690. doi: 10.7759/cureus.35690. eCollection 2023 Mar.
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Int J Reprod Biomed. 2022 Jul 6;20(6):433-446. doi: 10.18502/ijrm.v20i6.11439. eCollection 2022 Jun.
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