Evaluation of Genetic and Biochemical Factors in Patients with Acute Coronary Syndrome

Introduction: The cardiovascular diseases are the principal cause of death worldwide and a public health problem in Colombia. From the cardiac related illnesses, the most frequent is the Acute Coronary Syndrome (ACS). One of its risk factor is high plasma levels of homocysteine. The enzyme Paraoxonase 1 (PON1) hydrolyzes Homocysteine-thiolactone, producing homocysteine, avoiding damage to endothelium related to Homocysteine-thiolactone. Two genetic variants in PON1 gene have been associated with levels of homocysteine and acute coronary syndrome. Objective: to determine the relationship between the polymorphisms Q192R and L55M from gene PON1 and the levels of homocysteine, HDL, apo A-1 and the enzymatic activity of Paraoxonase I in patients who suffered acute coronary syndrome. Methods: sixteen unrelated patients with Acute Coronary Syndrome (ACS) and sixteen healthy controls were enrolled. The paraoxonase activity, levels of homocysteine, HDL and apo A-1 were assessed. The DNA polymorphism analysis was performed using Polymerase Chain Reaction (PCR) and digestion with restriction enzymes. Results: levels of homocysteine are higher in cases (p<0.0001) and the genotypes 192RR and QR are associated with higher levels of homocysteine (p=0.0234). Conclusion: polymorphisms in PON1 gene could be related to homocysteine levels in Acute Coronary Syndrome patients.