Velmurugan Saranya, Pauline Rashmi, Subbaraj Gowtham Kumar
Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam-603 103, Tamil Nadu, India.
J Turk Ger Gynecol Assoc. 2024 Aug 29;25(3):167-178. doi: 10.4274/jtgga.galenos.2024.2024-1-7.
Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder that impacts women before reaching menopause. In addition to notable features (irregular ovulation, elevated androgen levels, and the existence of numerous ovarian cysts), individuals with PCOS frequently encounter diverse metabolic, cardiovascular, and psychological conditions. The onset of PCOS is influenced by a combination of factors, and various genetic variations are believed to play a significant role in its progression. The objective of the current study was to explore the link between genetic variations in the candidate genes gene and insulin receptor () and susceptibility to developing PCOS. We conducted an extensive search across various databases, including Google Scholar, PubMed, Science Direct, Scopus, and EMBASE, to compile relevant case-control studies and literature reviews for subsequent statistical analysis. In the present study, the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist was followed, a guideline for Systematic Reviews and Meta-Analysis. While a previous meta-analysis explored the correlation between rs1799817 and rs13429458 and their association with susceptibility to PCOS, our current study did not integrate any findings from these prior investigations. Our research encompassed articles published between 2017 and 2023, and we employed MetaGenyo software to assess the collected data. Statistical power analysis was performed using G*Power 3.1 software. Odds ratios and their corresponding 95% confidence intervals were calculated for each genetic model. Fifteen studies that met the criteria were analyzed. Out of these, ten studies, involving 1,189 cases and 1,005 controls, examined the rs1799817 gene polymorphism, while five studies, including 783 cases and 553 controls, investigated the rs13429458 gene polymorphism. The meta-analysis results indicated that there was no statistically significant association between the rs1799817 gene polymorphism and the risk of PCOS (p>0.05). In contrast, the rs13429458 gene polymorphism showed a significant association with PCOS risk under the over-dominant model (p<0.05). The present meta-analysis demonstrated a notable association between the rs13429458 gene polymorphism and the likelihood of developing PCOS. Further rigorous studies with expanded sample sizes and diverse ethnic representation will be important to comprehensively evaluate and validate these findings.
多囊卵巢综合征(PCOS)是一种常见的内分泌和代谢紊乱疾病,会影响绝经前的女性。除了显著特征(排卵不规律、雄激素水平升高以及存在大量卵巢囊肿)外,PCOS患者还经常面临各种代谢、心血管和心理问题。PCOS的发病受多种因素综合影响,各种基因变异被认为在其发展过程中起重要作用。本研究的目的是探讨候选基因胰岛素受体基因的基因变异与患PCOS易感性之间的联系。我们在包括谷歌学术、PubMed、科学Direct、Scopus和EMBASE在内的各种数据库中进行了广泛搜索,以汇编相关的病例对照研究和文献综述,用于后续的统计分析。在本研究中,遵循了系统评价和荟萃分析的首选报告项目清单,这是系统评价和荟萃分析的指南。虽然之前的一项荟萃分析探讨了rs1799817和rs13429458之间的相关性及其与PCOS易感性的关联,但我们目前的研究没有纳入这些先前调查的任何结果。我们的研究涵盖了2017年至2023年发表的文章,并使用MetaGenyo软件评估收集的数据。使用G*Power 3.1软件进行统计功效分析。计算每个遗传模型的比值比及其相应的95%置信区间。对符合标准的15项研究进行了分析。其中,10项研究涉及1189例病例和1005例对照,研究了rs1799817基因多态性,而5项研究包括783例病例和553例对照,研究了rs13429458基因多态性。荟萃分析结果表明,rs1799817基因多态性与PCOS风险之间无统计学显著关联(p>0.05)。相比之下,rs13429458基因多态性在超显性模型下与PCOS风险显著相关(p<0.05)。本荟萃分析表明rs13429458基因多态性与患PCOS的可能性之间存在显著关联。进一步开展样本量更大、种族代表性更广泛的严谨研究对于全面评估和验证这些发现很重要。