Scholarlink

<p>Altering CYP11A1 expression due to polymorphisms can increase the likelihood of developing polycystic ovarian syndrome (PCOS). Several CYP11A1 polymorphisms have been extensively studied for their association with PCOS risk, but the findings have been inconsistent. To clarify this association, a meta-analysis was conducted to evaluate the relationship between various CYP11A1 variants and PCOS. A comprehensive literature search was conducted in PubMed/MEDLINE, Web of Science, the Cochrane Library, ScienceDirect, medRxiv, and Google Scholar, up to August 20, 2025. The quality of each article was evaluated using the Newcastle–Ottawa Scale (NOS). Meta-analysis of genetic association was performed by using the MetaGenyo web-based tool, whereas publication bias was examined by Egger’s test. Additionally, trial sequential analysis (TSA) and in silico gene expression analyses were conducted. Benjamini–Hochberg false discovery rate (FDR) correction was applied to control for multiple testing. In the overall population, we found a statistically significant association between the rs4077582 variant and increased PCOS risk in codominant Model 1 (OR = 2.07), codominant Model 2 (OR = 2.12), dominant Model (OR = 2.10), overdominant Model (OR = 1.54), recessive Model (OR = 1.50), and allelic contrast Model (OR = 1.66). These associations remained significant after FDR correction and trim-and-fill adjustment. For rs11632698, codominant 3 (OR = 1.47) and recessive models (OR = 1.57) were significantly linked with PCOS, although TSA indicates that the current evidence remains inconclusive. Trim-and-fill analysis for rs4077582 models showed that small-study effects slightly attenuated the pooled estimates, but the associations remained statistically significant. In contrast, no significant association was detected in the case of the rs6495096, rs4887139, and rs1484215 polymorphisms. This research suggests that the rs4077582 variant of the CYP11A1 gene may increase the risk of PCOS in the overall population. However, given the observational nature of the included studies and the predefined assumptions of TSA, further research on diverse ethnic groups, including functional and longitudinal studies, is needed to confirm this link more conclusively.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Genetic exploration of the impact of CYP11A1 polymorphisms on the development of PCOS: evidence from a meta-analysis with trial sequential analysis

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年6月3日

查看全文
  • Arafat Miah,
  • Anamika Datta,
  • Fojla Rabby Shuvo,
  • Md Abdul Barek,
  • Mohammad Safiqul Islam

摘要

Altering CYP11A1 expression due to polymorphisms can increase the likelihood of developing polycystic ovarian syndrome (PCOS). Several CYP11A1 polymorphisms have been extensively studied for their association with PCOS risk, but the findings have been inconsistent. To clarify this association, a meta-analysis was conducted to evaluate the relationship between various CYP11A1 variants and PCOS. A comprehensive literature search was conducted in PubMed/MEDLINE, Web of Science, the Cochrane Library, ScienceDirect, medRxiv, and Google Scholar, up to August 20, 2025. The quality of each article was evaluated using the Newcastle–Ottawa Scale (NOS). Meta-analysis of genetic association was performed by using the MetaGenyo web-based tool, whereas publication bias was examined by Egger’s test. Additionally, trial sequential analysis (TSA) and in silico gene expression analyses were conducted. Benjamini–Hochberg false discovery rate (FDR) correction was applied to control for multiple testing. In the overall population, we found a statistically significant association between the rs4077582 variant and increased PCOS risk in codominant Model 1 (OR = 2.07), codominant Model 2 (OR = 2.12), dominant Model (OR = 2.10), overdominant Model (OR = 1.54), recessive Model (OR = 1.50), and allelic contrast Model (OR = 1.66). These associations remained significant after FDR correction and trim-and-fill adjustment. For rs11632698, codominant 3 (OR = 1.47) and recessive models (OR = 1.57) were significantly linked with PCOS, although TSA indicates that the current evidence remains inconclusive. Trim-and-fill analysis for rs4077582 models showed that small-study effects slightly attenuated the pooled estimates, but the associations remained statistically significant. In contrast, no significant association was detected in the case of the rs6495096, rs4887139, and rs1484215 polymorphisms. This research suggests that the rs4077582 variant of the CYP11A1 gene may increase the risk of PCOS in the overall population. However, given the observational nature of the included studies and the predefined assumptions of TSA, further research on diverse ethnic groups, including functional and longitudinal studies, is needed to confirm this link more conclusively.