title: Joint effect of G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism on the risk of premature coronary artery disease.
abstract: The study sought an association between the G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism and premature coronary artery disease (CAD), and the interactive effect on CAD risk between the G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism as well as between tested polymorphisms and traditional risk factors. 167 patients with CAD younger than 55 years were compared with 132 healthy subjects. The frequency of factor V point mutation was 7.8 % among Slovene patients with premature CAD, and 4.5 % among controls. No association was found between either the factor V point mutation (AG genotype) or M1M1 genotype of factor VII Arg/Gln(353) gene polymorphism and the risk of CAD in Slovenia using univariate analysis (factor V point mutation: OR = 1.8, 95% CI = 0.7-4.9; p = 0.25; factor VII Arg/Gln(353) gene polymorphism: OR = 1, 95 % CI = 0.6-1.7; p = 0.9). However, a joint effect on the risk of CAD was found between factor V point mutation (AG genotype) and M1M1 genotype (OR = 3.6, 95 % CI = 1-12.9; p = 0.03). Additionally, an interactive effect on CAD risk was found between AG genotype and metabolic risk factors (OR = 3.8, 95% CI = 1.1-13.6; p = 0.03). In conclusion, we provide evidence for a joint effect on CAD risk between G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism as well as between factor V point mutation and metabolic risk factors.
authors.affiliation: Division for Medical Genetics, Medical Centre, Ljubljana, Slovenia. daniel.petrovic@mf.uni-lj.si
authors.forename: D
authors.initials: D
authors.lastname: Petrovic
authors.forename: M
authors.initials: M
authors.lastname: Zorc
authors.forename: I
authors.initials: I
authors.lastname: Keber
authors.forename: B
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution; D000789:Angina, Unstable / Q000453:epidemiology / Q000235:genetics; D015992:Body Mass Index; D003327:Coronary Disease / Q000453:epidemiology* / Q000235:genetics*; D003925:Diabetic Angiopathies / Q000453:epidemiology; D005165:Factor V / Q000737:chemistry / Q000235:genetics*; D005167:Factor VII / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012016:Reference Values; D012307:Risk Factors; D017524:Slovenia / Q000453:epidemiology; D012907:Smoking
chemical_list: D005165:Factor V; D005167:Factor VII