Association analysis of HHEX gene variant with type 2 diabetes risk

Abstract

Type 2 diabetes mellitus (T2DM) is a common, chronic, and complex disorder that is influenced by interactions between genetic and environmental factors. The hematopoietically expressed homeobox (HHEX) gene, which affects insulin sensitivity and secretion, is a candidate gene for the pathogenesis of T2DM. The purpose of this study was to investigate the effect of the HHEX genetic variant, rs1111875, on the T2DM risk in a group of Iranian patients for the first time. A total of 108 T2DM patients and 100 normal subjects were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). There was significant difference in genotypes and alleles frequency of rs1111875 between both case and control groups (p < 0.001). The frequency of the G allele was significantly higher in cases (87.5%) compared with controls (27%) (OR = 18.92, CI = 11.06–32.69, p < 0.001). Our findings suggest that the rs1111875 variant of the HHEX gene could be considered a strong risk factor for T2DM development.