title: Evidence against heterozygous coagulation factor V 1691 G-->A mutation with resistance to activated protein C being a risk factor for coronary artery disease and myocardial infarction.
abstract: The aim of our study was to determine the prevalence of the factor V mutation (position 1691 G-->A) in patients with angiographically diagnosed coronary artery disease and myocardial infarction and, as a control, in blood donors. This mutation has already been proved to be the main genetic risk factor for venous thrombosis. In order to detect this mutation in exon 10 of the factor V gene we established a microtiter plate based hybridization assay for the specific detection of wild-type and mutant sequences in factor V gene segments, obtained after amplification by polymerase chain reaction. This test enables us to screen a large number of samples. The mutation was detected in 29 of 317 coronary 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 prevalence 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 myocardial infarction. From our data we conclude that there is no increased risk of developing coronary atheroma or consecutive myocardial infarction resulting from the factor V mutation with protein C resistance.
authors.affiliation: Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik, Ruhr-Universität Bochum, Bad Oeynhausen, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Prohaska
authors.forename: H
authors.initials: H
authors.lastname: Mannebach
authors.forename: M
authors.initials: M
authors.lastname: Schmidt
authors.forename: U
authors.initials: U
authors.lastname: Gleichmann
authors.forename: K
authors.initials: K
authors.lastname: Kleesiek
mesh_terms: D000225:Adenine / Q000737:chemistry; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D004198:Disease Susceptibility; D004351:Drug Resistance / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005260:Female; D006147:Guanine / Q000737:chemistry; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D015995:Prevalence; D011486:Protein C / Q000378:metabolism*; D012307:Risk Factors
chemical_list: D011486:Protein C; D006147:Guanine; D005165:Factor V; D000225:Adenine