title: Homozygosity for the C-->T polymorphism at nucleotide 46 in the 5' untranslated region of the factor XII gene protects from development of acute coronary syndrome.
abstract: Recently, a C-->T polymorphism at nucleotide 46 in the 5'-untranslated region of the factor XII (FXII) gene was shown to be associated with lower levels of FXII. To study the impact of this polymorphism on the development of an acute coronary syndrome (ACS), we compared 303 patients with ACS and 227 patients with stable coronary artery disease (CAD). In the latter group, 54.2% of individuals carried wild-type FXII:46C, 37.9% were heterozygous FXII:C46T and 7.9% were homozygous for FXII:46T. In contrast, in the ACS group (n = 303), 54.1% were wild-type FXII:46C, 42.6% were heterozygous FXII:C46T and only 3.3% carried the homozygous FXII:46T genotype. The 2.5-fold lower prevalence of the FXII:46T genotype in patients with ACS could indicate a protective effect on the development of ACS (odds ratio = 0.4, 95% CI 0.1-0.9) in patients with pre-existing CAD.
authors.affiliation: Department of Laboratory Medicine, University of Vienna Medical School, AKH-Wien Währinger Gürtel 18-20, 1090 Vienna, Austria.
authors.forename: G
authors.initials: G
authors.lastname: Endler
authors.forename: C
authors.initials: C
authors.lastname: Mannhalter
authors.forename: H
authors.initials: H
authors.lastname: Sunder-Plassmann
authors.forename: W
authors.initials: W
authors.lastname: Lalouschek
authors.forename: S
authors.initials: S
authors.lastname: Kapiotis
authors.forename: M
authors.initials: M
authors.lastname: Exner
authors.forename: N
authors.initials: N
authors.lastname: Jordanova
authors.forename: S
authors.initials: S
authors.lastname: Meier
authors.forename: F
authors.initials: F
authors.lastname: Kunze
authors.forename: O
authors.initials: O
authors.lastname: Wagner
authors.forename: K
authors.initials: K
authors.lastname: Huber
mesh_terms: D020121:5' Untranslated Regions; D000208:Acute Disease; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000789:Angina, Unstable / Q000097:blood / Q000235:genetics; D001317:Austria / Q000453:epidemiology; D016022:Case-Control Studies; D003327:Coronary Disease / Q000097:blood / Q000235:genetics*; D005174:Factor XII / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000097:blood / Q000235:genetics; D016017:Odds Ratio; D010314:Partial Thromboplastin Time; D011110:Polymorphism, Genetic; D015995:Prevalence; D012306:Risk; D013577:Syndrome
chemical_list: D020121:5' Untranslated Regions; D005174:Factor XII