title: Factor V (Arg 506-->Gln) mutation in young survivors of myocardial infarction.
abstract: Many young patients with venous thromboembolic disease are partially resistant to the anticoagulant action of activated protein C as a result of factor V (Arg 506 --> Gln) mutation. The frequency of this mutation in young patients with arterial thrombotic diseases, such as myocardial infarction, is less well established. We studied 100 young patients with myocardial infarction and 100 age- and sex-matched controls. One patient (1%; 95% CL 0.05-6.2) and two controls (2%; 95% CL 0.3-7.7) were heterozygotes for the mutation; there was no homozygote in either group. Hence, premature myocardial infarction is not associated with heterozygosity for factor V (Arg 506 --> Gln) mutation.
authors.affiliation: Division of Cardiology, I.R.C.C.S., Policlinico San Matteo, Pavia, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Ardissino
authors.forename: F
authors.initials: F
authors.lastname: Peyvandi
authors.forename: P A
authors.initials: PA
authors.lastname: Merlini
authors.forename: E
authors.initials: E
authors.lastname: Colombi
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
mesh_terms: D000328:Adult; D000367:Age Factors; D001120:Arginine / Q000235:genetics; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009203:Myocardial Infarction / Q000097:blood / Q000235:genetics*; D017354:Point Mutation
chemical_list: D005165:Factor V; D001120:Arginine