Association of common genetic variants of KCNJ11 gene with the risk of type 2 diabetes mellitus

Type 2 diabetes mellitus (T2DM) is a multifactorial polygenic disease. Potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene mutations can result in susceptibility of T2DM. The aim of this study is to investigate the relationship between risk of T2DM and its complications (retinopathy & renal) and polymorphisms rs5210 and rs5215 of the KCNJ11 gene in a group of Iranian population. In this case-control study, 111 Iranian patients with T2DM and 82 control subjects were genotyped for each polymorphism by polymerase chain reaction (PCR) and Sanger Sequencing methods. Frequencies of genotypes of rs5210 polymorphism among subjects with and without diabetes mellitus were 53.15% vs. 51.22% for GG and 37.84% vs. 42.68% for AG (p = 0.7), respectively. Corresponding frequencies for rs5215 polymorphism among diabetics and non-diabetics were 13.51% vs. 13.41% for CC and 50.45% vs. 37.80% for CT (p = 0.2). G allele carriers (rs5210 polymorphism) and C allele carriers (rs5215 polymorphism) had the same frequency among diabetics and non-diabetics (p = 0.9 for G allele and p = 0.2 for C allele). Our results suggested that none of the polymorphisms of KCNJ11, rs5210 (p = 0.7) and rs5215 (p = 0.2), were significantly associated with T2DM. Only, the relationship between CT genotype of rs5215 and retinopathy (p = 0.01) showed a borderline significant association.