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Background Type 2 diabetes mellitus is a heterogeneous group of metabolic disorders caused by the interaction between genetic predisposition and environmental factors. The incidence of type 2 diabetes mellitus has increased over the last decades with more than 170 million individuals suffering from type 2 diabetes mellitus all over the world which imposes a greater economic impact on individuals, families and health systems. Though the genetic susceptibility to type 2 diabetes mellitus is polygenic, single nucleotide polymorphisms (SNP) at Hydroxy steroid dehydrogenase (HSD11B1) gene have been strongly associated with type 2 diabetes risk in various populations and ethnic groups. Objectives The aim of this study is to assess the association of Hydroxy-Steroid-Dehydrogenase-11B1 gene (rs846910) with type 2 diabetes mellitus in a sample of Egyptian population. Patients and Methods In the present study, we included 60 diabetic obese patients and 40 age and sex-matched controls. The mean age of the included patients was 50.26 ±9.1 year; while the majority of them were females (70%). All the participating patients were subjected to detailed history and the following investigations: fasting blood sugar, post prandial sugar,HbA1c, and lipid profile. Detection of gene polymorphism by real time PCR was performed for all subjects in the study. Results The study showed that homozygous GG genotype was more prelevant than GA genotype. No significant difference between GG and GA in terms of fasting and postprandial sugar and in terms of lipid profile: cholesterol (p = 0.642), TG (p = 0.808), LDL (p = 0.238), and HDL (p = 0.945).It showed no statistically significant difference between cases and controls in terms of HSD11B1 polymorphism (rs846910). The regression analysis showed that the HSD11B1 polymorphism did not significantly increase the risk of diabetes mellitus (OR 1.724, 95% CI [0.601 – 4.94]). Conclusion In conclusion, multiple further studies involving other single nucleotide polymorphism of 11 beta hydroxysteroid dehydrogenase gene as well as other genes involved in type 2 diabetes mellitus and obesity need to be done.

Association of Hydroxy (Steroid) Dehydrogenase 11b1 Gene with Type 2 Diabetes Mellitus in Egyptian Population