EVIDENCE AGAINST HETEROZYGOUS COAGULATION-FACTOR-V-1691-G-]A-MUTATIONWITH RESISTANCE TO ACTIVATED PROTEIN-C BEING A RISK FACTOR FOR CORONARY-ARTERY DISEASE AND MYOCARDIAL-INFARCTION

The aim of our study was to determine the prevalence of the factor V m utation (position 1691 G-->A) in patients with angiographically diagno sed coronary artery disease and myocardial infarction and, as a contro l, in blood donors. This mutation has already been proved to be the ma in genetic risk factor for venous thrombosis. In order to detect this mutation in exon 10 of the factor V gene we established a microtiter p late based hybridization assay for the specific detection of wildtype and mutant sequences in factor V gene segments, obtained after amplifi cation by polymerase chain reaction. This test enables us to screen a large number of samples. The mutation was detected in 29 of 317 corona ry artery disease (CAD) patients (9.1%) and 18 of 190 blood donors (9. 5%) investigated. The mean activated protein C resistance ratios were 3.18 and 3.11, with nearly identical distribution. No increased preval ence of the factor V mutation was found in the CAD group. In 10 of 29 CAD patients (35%) with the factor V 1691 G-->A mutation and in 124 of 288 CAD patients without the mutation (43%) there was a history of my ocardial infarction. From our data we conclude that there is no increa sed risk of developing coronary atheroma or consecutive myocardial inf arction resulting from the factor V mutation with protein C resistance .