[ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients]

The ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a candidate gene for insulin resistance. Insulin resistance is a major component of metabolic syndrome (MetS) and has been implicated in ischemic heart disease (IHD).

To evaluate the association between the K121Q polymorphism of the ENPP1 gene and IHD in white patients with type 2 diabetes mellitus (DM).

A cross-sectional study was performed in type 2 DM patients (n = 573, 50.6% males, age 59.5+/-10.4 years). IHD was defined by the presence of angina or myocardial infarction according to the Worth Health Organization cardiovascular questionnaire and/or compatible electrocardiographic (Minnesota Code), or perfusional abnormalities in myocardial scintigraphy. The K121Q polymorphism of ENPP1 gene was genotyped using PCR-based methods and restriction enzyme digestion.

IHD was present in 209 (36.5%) patients. The distribution of KK, KQ and QQ genotypes among patients with IHD was 60.8%, 34.4% and 4.8%, not different from the genotype distribution in the group without IHD (64%, 32.7% and 3.3%, P=0.574). No difference was found in the clinical and laboratory characteristics between the three genotypes, neither regarding the prevalence of Metabolic Syndrome.

No association was found between polymorphism K121A of ENPP1 gene and the presence of IHD.