Correlating the role of KCNJ11 polymorphism (rs5219) and T2DM: A case control study

BackgroundDiabetes is one of the four major types of non-communicable disease which has reached the epidemic proportions leading to major public health problems and concern. Several studies have shown the impact of genetic variations on diabetes pathogenesis. KCNJ11 gene has been associated with T2DM. Any variation in this gene disrupts the insulin release from beta cells ultimately causing diabetes.AimThe present research aims to resolve whether genetic variants of KCNJ11 have association with susceptibility to T2DM in the North Indian population.MethodPCR-RFLP technique was used to genotype 200 subjects for rs5219 genetic variant of KCNJ11 gene. Student's t test and chi square test (chi(2)) were used to evaluate continuous and categorical variables. Association of KCNJ11genotypes with T2DM was done by odds ratio (OR) and confidence interval (CI). All statistical analyses were performed using IBM SPSS-21 software.ResultsEnvironmental factors such as smoking and lack of exercise increase the risk for T2DM (OR>1). The genotype frequency distribution for KCNJ11 rs5219 SNP was in Hardy-Weinberg equilibrium (HWE) for both control (p-value-0.96) and T2DM case group (p-value-0.685). rs5219 was associated with T2DM in dominant genetic model (p-value- <0.001; OR- 3.781) and recessive genetic model (p-value- <0.001; OR- 3.740). It was found that T allele was a risk allele that increases susceptibility for T2DM.ConclusionThis study elucidated that rs5219 genetic variant of KCNJ11 may increase the susceptibility for T2DM and TT genotype might be involved in predisposing individuals for development of disease.