Abstract

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.

摘要

2型糖尿病（T2DM）是一种多因素多基因疾病。钾内向整流通道，亚家族J，成员11（KCNJ11）基因突变可导致T2DM易感性。这项研究的目的是调查一组伊朗人群中T2DM的风险与其并发症（视网膜病变和肾脏）以及KCNJ11基因的多态性rs5210和rs5215之间的关系。在该病例对照研究中，通过聚合酶链反应（PCR）和Sanger测序方法对111例伊朗T2DM患者和82例对照受试者的每种多态性进行了基因分型。有和没有糖尿病的受试者中rs5210基因多态性的基因型频率分别为GG的53.15％，51.22％和AG的37.84％与42.68％（p = 0.7）。糖尿病患者和非糖尿病患者中rs5215多态性的相应频率分别为CC的13.51％vs.13.41％，CT的50.45％vs.37.80％（p  = 0.2）。G等位基因携带者（rs5210多态性）和C等位基因携带者（rs5215多态性）在糖尿病患者和非糖尿病患者中具有相同的频率（ G等位基因p = 0.9，C等位基因p  = 0.2）。我们的结果表明，KCNJ11的多态性，rs5210（p  = 0.7）和rs5215（p  = 0.2）与T2DM没有显着相关性。仅rs5215的CT基因型与视网膜病变之间的关系（p  = 0.01）显示出临界的显着关联。