title: The decanucleotide polymorphism in the factor VII promoter predicts factor VII plasma levels but not the risk of acute coronary syndromes.
abstract: It is known from large epidemiological studies that the elevation of coagulation factor VII in plasma is an independent risk factor for acute coronary syndromes. The level of factor VII is influenced by polymorphic sites in the factor VII gene. However, data on the association of such polymorphisms with the risk of acute coronary syndromes are conflicting. A decanucleotide insertion/deletion polymorphic site has been described in the promoter of the factor VII gene that leads to a dramatic change in the plasma factor VII levels. We therefore analyzed the association of this polymorphism with the risk of acute coronary syndromes in a case-control study. Included in the study were 111 patients with angiographically documented acute coronary syndromes and 108 age- and sex-matched individuals from the same geographic area without signs or symptoms of coronary heart disease. The presence or absence of the decanucleotide stretch at position -323 in the promoter of factor VII was monitored using a polymerase chain reaction (PCR)-based restriction technique. The prevalence of the genotype with the homozygous deletion was similar in the patients with acute coronary syndromes (79.2%) and in the control patients (79.6%). There was a non-significant trend toward a higher prevalence of the homozygote deletion in patients with premature acute coronary syndromes (77.4%) compared with an age-matched subgroup of the control patients (67. 5%) (odds ratio [OR] 1.6, confidence interval [CI] 0.95, 0.61-3.93). Thus, we could not find a significant association of the occurrence of acute coronary events with the insertion/deletion polymorphism in factor VII.
authors.affiliation: Division of Hematology and Hemostaseology, University of Vienna, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Jimenez-Boj
authors.forename: J
authors.initials: J
authors.lastname: Schüttrumpf
authors.forename: E
authors.initials: E
authors.lastname: Forberg
authors.forename: H H
authors.initials: HH
authors.lastname: Watzke
authors.forename: K
authors.initials: K
authors.lastname: Huber
mesh_terms: D000208:Acute Disease; D000328:Adult; D001317:Austria; D016022:Case-Control Studies; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D005167:Factor VII / Q000235:genetics* / Q000378:metabolism; D005260:Female; D016368:Frameshift Mutation; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D017384:Sequence Deletion
chemical_list: D005167:Factor VII