title: Genetic risk factors in acute coronary disease.
abstract: OBJECTIVE
  We investigate whether each of the following: HPA-1, Factor V Leiden, prothrombin gene variant and the methylene tetrahydrofolate reductase gene (MTHFR) mutation, are risk factors for acute coronary disease in Portuguese patients.
  
  
  METHODS
  100 blood donors and 52 patients with an established diagnosis of myocardial infarction or unstable angina were evaluated for genetic risk factors, by determining HPA-1 genotype, Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation.
  
  
  RESULTS
  We found a prevalence of 2.0% for Factor V Leiden, 5.0% for the Prothrombin 20210 variant and 66% for the MTHFR mutation in blood donors. These values are similar to those found in the patients (1.9, 3.8 and 58%, respectively). We found that 28/100 controls had the PI(A2) polymorphism, a frequency statistically different from that in the patients (23/52). This difference was even more pronounced in patients less than 60 years old (27/96 vs. 13/24).
  
  
  CONCLUSIONS
  Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation do not seem to represent risk factors for acute coronary disease. However, the PI(A2) polymorphism could have a role in the pathogenesis of this disease. The presence of multiple genetic factors, more than single ones, could influence the development and outcome of myocardial infarction and unstable angina. Larger studies are needed in order to have a better insight into the pathophysiological mechanisms of this disease, along with its prevention and the development of new treatments.
authors.affiliation: Center of Thrombosis, Haemostasis and Vascular Biology, Molecular Biology Unit, Department of Transfusion Medicine and Blood Bank, Hospital S. João, Porto, Portugal. sih@ip.pt
authors.forename: F
authors.initials: F
authors.lastname: Araújo
authors.forename: A
authors.initials: A
authors.lastname: Santos
authors.forename: V
authors.initials: V
authors.lastname: Araújo
authors.forename: I
authors.initials: I
authors.lastname: Henriques
authors.forename: F
authors.initials: F
authors.lastname: Monteiro
authors.forename: E
authors.initials: E
authors.lastname: Meireles
authors.forename: I
authors.initials: I
authors.lastname: Moreira
authors.forename: D
authors.initials: D
authors.lastname: David
authors.forename: M J
authors.initials: MJ
authors.lastname: Maciel
authors.forename: L M
authors.initials: LM
authors.lastname: Cunha-Ribeiro
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics; D000208:Acute Disease; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000789:Angina, Unstable / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D016824:Antigens, Human Platelet / Q000235:genetics; D003327:Coronary Disease / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009203:Myocardial Infarction / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011174:Portugal / Q000453:epidemiology; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors
chemical_list: D016824:Antigens, Human Platelet; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)