Objective: The common C34T polymorphism in the AMP deaminase-1 (AMPD1) gene results in an inactive enzyme in homozygotes for the mutated T allele. Some studies have shown an association of T allele with longer survival in heart failure (HF) and/or coronary artery disease (CAD). The aim of this study was to assess genotype-phenotype correlations in such patients, with emphasis on components of the metabolic syndrome.
Methods: Ninety-seven patients with CAD without HF (CAD+ HF-) and 104 with HF (HF+) were genotyped by PCR-RFLP. The genetic control group comprised 200 newborns.
Results: No significant differences were found in the frequency of AMPD1 genotypes between the groups. In the CAD+ HF- group, the carriers of T allele compared to CC homozygotes had significantly lower values of waist circumference (89.5+/-8.5 versus 97.7+/-11.2 cm; p = 0.00029), waist/hip ratio (p = 0.0059) and BMI (p = 0.045). There was no diabetes or fasting glycaemia > or =126 mg/dL in T carriers, while these features were present in 25% of CC homozygotes (p = 0.0024). In the HF+ group, a tendency towards a lower prevalence of diabetes (20 % versus 41%; p = 0.068) and significantly lower systolic blood pressure (p = 0.048) were observed in T allele carriers.
Conclusions: C34T AMPD1 polymorphism may be associated with reduced frequency of obesity in CAD patients and of hyperglycaemia and diabetes in both CAD and HF patients. Morphometric parameters associated with adipose tissue distribution and parameters of glucose metabolism should be analysed as potential confounders in further studies on the role of polymorphisms of AMPD1 and other genes associated with AMP and adenosine metabolism in cardiovascular disease.