Association of HSD11B1 rs12086634 and HSD11B1 rs846910 gene polymorphisms with polycystic ovary syndrome in South Indian women

The 11beta-hydroxysteroid dehydrogenase type 1 (11β-HSD1) enzyme generates cortisol from cortisone for local glucocorticoid action in hepatocytes and adipocytes. Functional polymorphisms within 11beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene have shown an association with various factors including insulin resistance, diabetes, and obesity. In this study, we have assessed a candidate gene association study in order to examine the association of HSD11B1 gene polymorphisms with polycystic ovary syndrome (PCOS). A total of 200 women were investigated in this case-control study. DNA samples from PCOS women (n = 100) and the age-matched control women (n = 100) were analyzed. Genotyping of HSD11B1 rs12086634 and rs846910 variants was performed using tetra-primer amplification refractory mutation system (TETRA-ARMS) PCR. Odds ratio and 95% confidence interval were calculated to determine the association of HSD11B1 gene polymorphisms with polycystic ovary syndrome. The association analysis indicate that HSD11B1 rs12086634 showed positive association with polycystic ovary syndrome (OR = 1.95; 95%CI = 1.11–3.44, p = 0.0195) and women with HSD11B1 rs12086634 TG genotype had significantly higher body mass index (28.05 kg/mt², p = 0.001), higher waist circumference (89.68 cms, p = 0.019), higher triglycerides (120.37 mg/dl, p = 0.049), and lower HDL levels (45.56 mg/dl, p = 0.004) compared to the women with HSD11B1 TT genotype. HSD11B1 rs846910 did not show any association with PCOS (OR = 0.57; 95%CI = 0.311–1.051, p = 0.072). Our results suggest that HSD11B1 rs12086634 polymorphism is associated with PCOS and HSD11B1 rs846910 gene polymorphism is not associated with PCOS in South Indian women.