Abstract
Purpose/Aim of the study: Exostosin 2 (EXT2) is involved in early pancreatic development and the regulation of insulin synthesis. In this study, we aim to evaluate the contribution of EXT2 to the genetic pathogenesis of type 2 diabetes and its related traits in the Chinese population. Materials and methods: A case–control study in a Chinese Han population was conducted that included 4766 patients with type 2 diabetes and 4596 control subjects from 14 different regions of China. Three single nucleotide polymorphism (SNP), rs3740878, rs11037909 and rs1113132, in the EXT2 gene were genotyped using the Illumina GoldenGate Genotyping assay. Results: After adjusting for sex, age and body mass index, logistic regression analysis revealed that the EXT2 gene had no association with type 2 diabetes using an additive genetic model [rs3740878 (Odds Ratio (OR) = 0.996, 95% confidence interval (CI) 0.928–1.069, p = 0.910), rs11037909 (OR = 1.003, 95%CI 0.933–1.078, p = 0.931), and rs1113132 (OR = 0.993, 95% CI 0.925–1.065, p = 0.842)]. None of these SNPs were associated with beta cell function as determined using the baseline disposition index, early phase insulin secretion and Oral Glucose Tolerance Test (OGTT) total disposition index. Conclusions: Our study suggests that the EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population.
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