Association of HSD11B1 gene polymorphisms with type 2 diabetes and metabolic syndrome in South Indian population.

Background: 11beta-hydroxysteroid dehydrogenase Type 1 (11β-HSD1) is an NADP or NADPH-dependent enzyme that generates cortisol from cortisone for a local glucocorticoid action. Functional polymorphisms within 11beta-hydroxysteroid dehydrogenase Type 1 (HSD11B1) gene have shown an association with various factors, including insulin resistance (IR) and hypertension. In our study, we have assessed the association of HSD11B1 (rs12086634 and rs846910) gene polymorphisms with type 2 diabetes (T2D) and metabolic syndrome (metS).

Methods: In the present study, 616 subjects were enrolled. DNA from T2D subjects (n=207), metS subjects (n=101), and their age and sex matched control subjects were analyzed. Genotyping of HSD11B1 rs12086634 and rs846910 single nucleotide polymorphisms was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR). An odds ratio and 95% confidence interval were calculated to determine the association of HSD11B1 gene polymorphisms with T2D and metS.

Results: The association analysis indicated that HSD11B1 rs12086634 TG contributed to an increased risk of both T2D (OR=1.91; 95% CI-1.33-2.76, P=0.0005) and metS (OR=2.37; 95% CI-1.39-4.05, P=0.0015), but HSD11B1 rs846910 AG contributed to an increased risk of T2D (OR=1.62; 95% CI-1.02-2.57, P=0.03) only. There was a statistically significant difference in systolic blood pressure between the control group with HSD11B1 rs12086634 TG genotype (128.96±13.19mmHg) and the control group with HSD11B1 rs12086634 TT genotype (123.27±10.84mmHg).

Conclusions: The results of our study indicated that the HSD11B1 rs12086634 is associated with both T2D and metS, but HSD11B1 rs846910 is associated with only T2D in South Indian population.