title: G20210A prothrombin gene polymorphism and prothrombin activity in subjects with or without angiographically documented coronary artery disease.
abstract: BACKGROUND
  G20210A prothrombin mutation has been associated with high prothrombin levels and an increased risk of venous thrombosis. The role of this common polymorphism, as well as that of prothrombin levels, in determining the risk of arterial disease is still somewhat controversial.
  
  
  RESULTS
  We determined the prevalence of the G20210A mutation and prothrombin activity in 660 individuals, of whom 436 had angiographically documented severe coronary artery disease (CAD patients) and 224 had normal coronary angiography (CAD-free control subjects). Heterozygosity for the 20210A allele was found in 5.3% of the CAD patients versus 3.1% of the CAD-free subjects (P=0.21). Similarly, no statistically significant difference was found between CAD patients with or without previous myocardial infarction (4.5% versus 5.3%, respectively; P=0.73). The genotype-phenotype correlation study showed a significant influence of the 20210A allele on prothrombin activity, with higher levels in carriers compared with noncarriers (153.2% versus 122.2%, respectively; P<0.001). Prothrombin activity was significantly higher in CAD patients than in CAD-free subjects (132.8% versus 123.3%, respectively; P<0.005). By multiple logistic regression, prothrombin activity in the upper tertile of the control distribution was significantly associated with CAD compared with prothrombin activity in the lower tertile (adjusted odds ratio 1.86, 95% CI 1.01 to 3.4).
  
  
  CONCLUSIONS
  In a population with a clear-cut definition of the phenotype, the G20210A prothrombin mutation was not significantly associated, per se, with either angiographically documented CAD or myocardial infarction, whereas it significantly influenced prothrombin activity. In our population, high prothrombin activity itself was independently associated with CAD but not with the presence or absence of previous myocardial infarction.
authors.affiliation: Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy. carlarusso@katamail.com
authors.forename: C
authors.initials: C
authors.lastname: Russo
authors.forename: D
authors.initials: D
authors.lastname: Girelli
authors.forename: O
authors.initials: O
authors.lastname: Olivieri
authors.forename: P
authors.initials: P
authors.lastname: Guarini
authors.forename: F
authors.initials: F
authors.lastname: Manzato
authors.forename: F
authors.initials: F
authors.lastname: Pizzolo
authors.forename: B
authors.initials: B
authors.lastname: Zaia
authors.forename: A
authors.initials: A
authors.lastname: Mazzucco
authors.forename: R
authors.initials: R
authors.lastname: Corrocher
mesh_terms: D000368:Aged; D017023:Coronary Angiography; D003327:Coronary Disease / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics / Q000503:physiopathology; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics* / Q000378:metabolism
chemical_list: D005819:Genetic Markers; D011516:Prothrombin