Aims: The KCNJ11 gene has a strong effect on glucose-stimulated insulin secretion. Common polymorphism KCNJ11 E23K has been reported to be associated with type 2 diabetes in various European-descent populations. However, there were inconsistent results in previous studies in Asian populations, and no study has been carried out in the Iranian population. We examined the contribution of KCNJ11 E23K variant in the susceptibility to type 2 diabetes in the Iranian population.
Methods: We undertook a population-based association study between type 2 diabetes and E23K mutation using 400 people with type 2 diabetes and 420 controls. Genotyping was performed using TaqMan technology on an ABI7300 system.
Results: No significant difference was observed in either genotype distribution (p = 0.71) or allele frequency (p = 0.88) between individuals with and without type 2 diabetes. After adjusting for the confounding effects of age, gender and body mass index (BMI), no significant effect of genotypes on type 2 diabetes was found regarding any genetic models tested (recessive, dominant or co-dominant models). Following subgroup analysis of individuals with and without diabetes based on BMI, a nominal significant association was observed between type 2 diabetes in the presence of obesity and E23K genotype in the recessive model (p = 0.03).
Conclusion: The KCNJ11 E23K polymorphism is not associated with genetic susceptibility to type 2 diabetes in the Iranian population; however, it may play a role in disease progression in the presence of obesity.
Keywords: Association study; E23K; Iranian population; KCNJ11; type two diabetes.