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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
Author(s) -
Endler Georg,
Mannhalter Christine,
SunderPlassmann Heike,
Lalouschek Wolfgang,
Kapiotis Sonja,
Exner Markus,
Jordanova Nelli,
Meier Susanne,
Kunze Freja,
Wagner Oswald,
Huber And Kurt
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.03201.x
Subject(s) - factor xii , genotype , odds ratio , single nucleotide polymorphism , medicine , untranslated region , acute coronary syndrome , gene , biology , myocardial infarction , genetics , coagulation , rna
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.