Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency

Objective: promoter variant c.-9C>G in a case-control setting. Materials and Methods: c.-9C>G genotype frequencies were compared with 80 ethnically matched controls with normal ovarian function. Genotype-specific analyses compared CG versus CC + GG using Fisher's exact test, with odds ratios (ORs) and 95% confidence intervals (CIs). Results: c.-9C>G variant was identified in 34/75 patients; it occurred alone in 21, with c.308A>G in 12, and with c.352G>A in 1 patient. In the case-control comparison, the CG genotype was more frequent in POI than in controls (34/75, 45.3% vs. 15/80, 18.8%) and was associated with increased POI risk (OR=3.59, 95% CI: 1.74-7.40; p=0.0005). Conclusion: c.-9C>G variant may be associated with susceptibility to POI in this Turkish cohort, but this finding requires confirmation in larger, unrelated, well-matched populations and functional studies.