Thomas Sheena Mariam, Veerabathiran Ramakrishnan
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.
J Turk Ger Gynecol Assoc. 2024 Dec 10;25(4):207-218. doi: 10.4274/jtgga.galenos.2024.2024-6-10.
Polycystic ovary syndrome (PCOS) is prevalent among reproductive-aged women and is categorized by hormonal imbalances, irregular menstrual cycles, and challenges with fertility. PCOS affects approximately 3.6% of women globally, with prevalence varying by region. The luteinizing hormone/choriogonadotropin receptor () gene, which encodes the , has been implicated in PCOS pathophysiology. This study investigated the association between the gene polymorphism rs2293275 and PCOS through a meta-analysis.
An extensive literature review was carried out using Embase, PubMed, and Google Scholar databases to identify research studies exploring the association between gene variants and PCOS. The review was conducted based on the PRISMA checklist. Eligible case-control studies from 2016 to 2024 were chosen based on predefined criteria. Quantitative data analysis was performed using MetaGenyo software, employing a significance threshold of p<0.05. Odds ratios (OR) and confidence intervals (CI) were calculated to evaluate the relationships. G*Power 3.1 software was employed for statistical power analysis to assess the study's strength. The meta-analysis explored the link between gene variant rs2293275 and PCOS across diverse ethnic groups and genetic models.
Analyzing data from 10 studies involving 1,431 PCOS cases and 1,317 controls, the findings revealed no significant associations in most genetic models: allele (OR: 0.89, 95% CI: 0.54-1.49), dominant (OR: 0.74, 95% CI: 0.47-1.18), recessive (OR: 0.80, 95% CI: 0.41-1.57), and over-dominant (OR: 1.13, 95% CI: 0.69-1.85). Subgroup analyses by ethnicity (Arabs, Asians, Caucasians) consistently showed no significant correlations, except a protective effect in Caucasians (OR: 0.57, 95% CI: 0.34-0.95) in the AA vs. aa comparison. Sensitivity analyses confirmed robustness, and there was no indication of publication bias. Power analysis validated adequate sample sizes, and protein-protein interaction networks underscored biological relevance.
The meta-analysis concluded that no significant connection was observed between the gene variant rs2293275 and the risk of PCOS among different populations. This suggests a complexity in PCOS etiology and indicating that may not be a significant genetic marker for PCOS. Future research should explore other genetic and environmental factors contributing to PCOS, emphasizing the importance of genetic and ethnic variability in such studies.
多囊卵巢综合征（PCOS）在育龄妇女中普遍存在，其特征为激素失衡、月经周期不规律以及生育问题。PCOS在全球约3.6%的女性中存在，患病率因地区而异。编码促黄体生成素/绒毛膜促性腺激素受体（）的黄体生成素/绒毛膜促性腺激素受体（）基因与PCOS的病理生理学有关。本研究通过荟萃分析调查了促黄体生成素/绒毛膜促性腺激素受体（）基因多态性rs2293275与PCOS之间的关联。
使用Embase、PubMed和谷歌学术数据库进行广泛的文献综述，以识别探索促黄体生成素/绒毛膜促性腺激素受体（）基因变异与PCOS之间关联的研究。该综述基于PRISMA清单进行。根据预定义标准选择2016年至2024年符合条件的病例对照研究。使用MetaGenyo软件进行定量数据分析，显著性阈值为p<0.05。计算比值比（OR）和置信区间（CI）以评估关系。使用G*Power 3.1软件进行统计功效分析以评估研究的力度。荟萃分析探讨了促黄体生成素/绒毛膜促性腺激素受体（）基因变异rs2293275与不同种族群体和遗传模型中的PCOS之间的联系。
分析来自10项研究的数据，涉及1431例PCOS病例和1317例对照，结果显示在大多数遗传模型中无显著关联：等位基因（OR：0.89，95%CI：0.54 - 1.49）、显性（OR：0.74，95%CI：0.47 - 1.18）、隐性（OR：0.80，95%CI：0.41 - 1.57）和超显性（OR：1.13，95%CI：0.69 - 1.85）。按种族（阿拉伯人、亚洲人、高加索人）进行的亚组分析始终显示无显著相关性，但在AA与aa比较中，高加索人有保护作用（OR：0.57，95%CI：0.34 - 0.95）。敏感性分析证实了稳健性，且无发表偏倚迹象。功效分析验证了样本量充足，蛋白质 - 蛋白质相互作用网络强调了生物学相关性。
荟萃分析得出结论，在不同人群中，促黄体生成素/绒毛膜促性腺激素受体（）基因变异rs2293275与PCOS风险之间未观察到显著关联。这表明PCOS病因复杂，提示促黄体生成素/绒毛膜促性腺激素受体（）可能不是PCOS的重要遗传标记。未来研究应探索导致PCOS的其他遗传和环境因素，强调此类研究中遗传和种族变异性的重要性。
