Genetic risk factors in acute coronary disease

Objective: We investigate whether each of the following: HPA-1, Factor V Le iden, prothrombin gene variant and the methylene tetrahydrofolate reductase gene (MTHFR) mutation, are risk factors for acute coronary disease in Port uguese patients. Material and Methods: 100 blood donors and 52 patients wit h an established diagnosis of myocardial infarction or unstable angina were evaluated for genetic risk factors, by determining HPA-I genotype, Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation. Results: We Found a prevalence of 2.0% for Factor V Leiden, 5.0% for the Prothrombin 20210 var iant and 66% for the MTHFR mutation in blood donors. These values are simil ar to those found in the patients (1.9, 3.8 and 58%, respectively). We foun d that: 28/100 controls had the PIA2 polymorphism, a frequency statisticall y different from that in the patients (23/52). This difference was even mor e pronounced in patients less than 60 years old (27/96 vs. 13/24). Conclusi on: Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation do not se em to represent risk factors for acute coronary disease. However, the PIA2 polymorphism could have a role in the pathogenesis of this disease. The pre sence of multiple genetic factors, more than single ones, could influence t he development and outcome of myocardial infarction and unstable angina. La rger studies are needed in order to have a better insight into the pathophy siological mechanisms of this disease, along with its prevention and the de velopment of new treatments, Copyright (C) 2000 S. Karger AG, Basel.