Association between a 11β-hydroxysteroid dehydrogenase type 1 gene polymorphism and metabolic syndrome in a South Indian population

Introduction: The striking phenotypic similarities between metabolic syndrome and the Cushing syndrome of glucocorticoid excess have often been linked to 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), which activates inert precursors like the cortisone, 11-dehydrocortisone to active glucocorticoids by oxo-reductase activity in several organs. Thus, increased expression of 11β-HSD1 is associated with insulin resistance, diabetes, hypertension, and dyslipidemia. In this study, we investigated the association of a common polymorphism of the HSD11B1 gene with metabolic syndrome and its components. Materials and Methods: The study included 205 subjects, including 105 diagnosed with metabolic syndrome and 100 controls. The subjects were genotyped for the HSD11B1 gene polymorphism (rs12086634) T→G using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The distribution of the genotypes and its association with clinical and biochemical parameters were assessed. Results: There was a significant association between the HSD11B1 gene polymorphism (rs12086634) and occurrence of metabolic syndrome compared to controls (P<0.0001). Regarding the rs1206634 T→G variant, heterozygous patients had a higher systolic blood pressure (P=0.039), higher prevalence of diabetes (P=0.010), and higher total cholesterol levels (P=0.006) compared to homozygotes. However, there was no significant association of the polymorphism with obesity or specific body habitus. Conclusion: We conclude that in a South Indian population, a polymorphism of the HSD11B1 gene containing the single-nucleotide polymorphism (SNP) rs12086634 T→G confers increased risk of metabolic syndrome.