PC-1 (ENPP1) K121Q polymorphism in overweight and obese type 2 diabetic coronary heart disease patients

The aim of the present study was to investigate the prevalence of the PC-1 121Q allele and to test its association to cardiovascular risk factors in type 2 diabetes mellitus (DM) patients.

A total of 103 unrelated Caucasians from Serbia, including 71 DM patients without CHD (aged 59.4 +/- 8.9 years, with a mean body mass index (BMI) of 33.3 +/- 4.8 kg/m2) and 32 DM patients who suffered from coronary heart disease (DM+CHD) (aged 59.3 +/- 8.0 years, with a mean BMI of 30.37 +/- 3.71 kg/m2), were genotyped for PC-1 K121Q using a mutagenic separated PCR assay.

The prevalence of the PC-1 121Q allele was significantly higher in DM+CHD, compared to DM (P < 0.001) and control (P < 0.001) groups, since it was found in 10 (14%) DM patients, 13 (41%) DM+CHD patients and 10 (17%) control subjects. When the association of PC-1 121Q allele and the risk of suffering from CHD were assessed within the DM group in a binary logistic regression model adjusting for age and sex, PC-1 121Q allele carriers had a 76% lower risk (OR 0.24; 95% CI: 0.08-0.67, P = 0.006) for developing CHD compared to subjects who exhibited PC-1 wild-type.

The prevalence of the PC-1 121Q allele was significantly higher in type 2 diabetic patients who suffered from CHD, compared to type 2 diabetic patients without CHD. However, after a binary logistic regression model analysis, adjusting for age and sex., PC-1 121Q allele carriers had a 76% lower risk (OR 0.24; 95% CI: 0.08-0.67, P = 0.006) for developing CHD compared to subjects who exhibited PC-1 wild-type. Since these data were cross-sectional, the potential patient selection and survival bias, as well as community underdiagnosis of DM and CHD, could most likely substantially underestimate the genetic influence.