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

Description

Arafat Miah and four colleagues pooled in 2026 studies linking variants of the CYP11A1 gene to polycystic ovary syndrome, a hormonal disorder. Changes in this gene's expression can raise syndrome risk, but studies of its variants gave inconsistent results. The team searched six databases up to August 2025, judged quality with the Newcastle-Ottawa Scale, pooled genetic associations, checked publication bias, and corrected for multiple testing. Trial sequential analysis judged whether evidence was conclusive.

One variant, rs4077582, linked significantly to higher syndrome risk across codominant, dominant, overdominant, recessive, and allelic models, with odds ratios from 1.50 to 2.12. The links survived correction and adjustment for small-study effects. A second variant, rs11632698, showed links in two models, but sequential analysis judged it inconclusive, while three other variants showed no link. The authors present rs4077582 as a risk marker, while calling for diverse and longitudinal studies before firmer claims.

Catalog record

Source: https://europepmc.org/articles/PMC13473682