候选基因(INSR 和 THADA)多态性与多囊卵巢综合征的关系:荟萃分析和统计功率分析。

Saranya Velmurugan, Rashmi Pauline, Gowtham Kumar Subbaraj
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引用次数: 0

摘要

多囊卵巢综合征(PCOS)是一种常见的内分泌和新陈代谢疾病,主要影响绝经前的女性。多囊卵巢综合征患者除了具有明显的特征(排卵不规律、雄激素水平升高和存在大量卵巢囊肿)外,还经常会出现各种代谢、心血管和心理问题。多囊卵巢综合征的发病受多种因素的影响,各种基因变异被认为在其发展过程中起着重要作用。本研究旨在探讨候选基因甲状腺腺瘤相关基因(THADA)和胰岛素受体(INSR)的遗传变异与多囊卵巢综合征易感性之间的联系。我们在各种数据库(包括 Google Scholar、PubMed、Science Direct、Scopus 和 EMBASE)中进行了广泛的搜索,汇编了相关的病例对照研究和文献综述,以便进行后续的统计分析。本研究采用了系统综述和荟萃分析指南中的 "系统综述和荟萃分析首选报告项目 "清单。虽然之前的一项荟萃分析探讨了 INSR rs1799817 和 THADA rs13429458 之间的相关性及其与多囊卵巢综合征易感性的关系,但我们目前的研究并未整合这些之前调查的任何结果。我们的研究涵盖了 2017 年至 2023 年间发表的文章,并采用 MetaGenyo 软件对收集到的数据进行了评估。使用G*Power 3.1软件进行了统计功率分析。计算了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 项研究调查了 INSR rs1799817 基因多态性,包括 1,189 例病例和 1,005 例对照;5 项研究调查了 THADA rs13429458 基因多态性,包括 783 例病例和 553 例对照。荟萃分析结果表明,INSR rs1799817 基因多态性与多囊卵巢综合症的发病风险之间没有统计学意义(P>0.05)。相反,在超显性模型下,THADA rs13429458 基因多态性与多囊卵巢综合症风险有显著关联(pTHADA rs13429458 基因多态性与患多囊卵巢综合症的可能性)。要全面评估和验证这些发现,必须进一步开展严格的研究,并扩大样本量和增加不同种族的代表性。
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Association of candidate gene (INSR & THADA) polymorphism with polycystic ovary syndrome: meta-analysis and statistical power analysis.

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 thyroid-adenoma-associated (THADA) gene and insulin receptor (INSR) 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 INSR rs1799817 and THADA 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 INSR rs1799817 gene polymorphism, while five studies, including 783 cases and 553 controls, investigated the THADA rs13429458 gene polymorphism. The meta-analysis results indicated that there was no statistically significant association between the INSR rs1799817 gene polymorphism and the risk of PCOS (p>0.05). In contrast, the THADA 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 THADA 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.

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来源期刊
CiteScore
2.40
自引率
7.10%
发文量
56
期刊介绍: Journal of the Turkish-German Gynecological Association is the official, open access publication of the Turkish-German Gynecological Education and Research Foundation and Turkish-German Gynecological Association and is published quarterly on March, June, September and December. It is an independent peer-reviewed international journal printed in English language. Manuscripts are reviewed in accordance with “double-blind peer review” process for both reviewers and authors. The target audience of Journal of the Turkish-German Gynecological Association includes gynecologists and primary care physicians interested in gynecology practice. It publishes original works on all aspects of obstertrics and gynecology. The aim of Journal of the Turkish-German Gynecological Association is to publish high quality original research articles. In addition to research articles, reviews, editorials, letters to the editor, diagnostic puzzle are also published. Suggestions for new books are also welcomed. Journal of the Turkish-German Gynecological Association does not charge any fee for article submission or processing.
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