Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population

AimsWe investigated whether gene polymorphisms of Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and matrix metalloproteinase 3 (MMP3) are associated with increased vascular calcification in patients with type 2 diabetes (T2D) and evaluated whether serum MMP3 and osteoprotegerin (OPG) levels are related to calcification.MethodsThis study included 464 subjects: 269 patients with T2D and 195 healthy controls in South Korea. We genotyped subjects for four single nucleotide polymorphisms (SNPs): ENPP1 K121Q, ENPP1 A/G+1044TGA, MMP3 −709A>G and MMP3 −1475G>A. The presence or absence of calcifications in the aortic arch was assessed by plain chest radiography.ResultsThe SNPs ENPP1 K121Q and MMP3 −709A>G showed significant associations with T2D (P = 0.001 and P = 0.004). The SNP ENPP1 K121Q showed a significant association with aortic arch calcification in T2D (P = 0.036). Serum OPG levels were significantly higher in T2D patients than in the control group (P < 0.001). However, serum MMP3 levels were significantly lower in T2D patients than in the control group (P < 0.001).ConclusionsOur study demonstrates that the ENPP1 K121Q and MMP3 −709A>G polymorphisms are associated with T2D, and that the ENPP1 Q allele is associated with increased aortic arch calcification in a Korean population.