title: Prevalence of three common polymorphisms in the A-subunit gene of factor XIII in patients with coronary artery disease.
abstract: Activated blood coagulation factor XIII has an important role in the final stage of the clotting cascade by the covalent crosslinking of alpha- and gamma-fibrin chains. We have recently shown that a functional polymorphism in exon 2. codon 34 of the FXIII A-subunit gene is protective against myocardial infarction. To investigate the prevalence of three other common point mutations in the A-subunit gene (codon 564, C to T, 650 G to A and 651 G to C) and their association with FXIII activity and antigen levels, 275 patients with coronary artery disease and 196 controls were studied. There was no difference in the prevalence of the polymorphisms between patients and controls or between patients with or without MI. Only genotype at codon 564 was associated with FXIII activity with lower activities in subjects possessing the T allele. There was evidence of linkage disequilibrium between codon 34 and codon 564. These results suggest that FXIIIVal34Leu is the only common polymorphism in the coding region of the A-subunit gene of FXIII associated with coronary artery disease.
authors.affiliation: Unit of Molecular Vascular Medicine, Leeds General Infirmary, University of Leeds, UK.
authors.forename: H P
authors.initials: HP
authors.lastname: Kohler
authors.forename: T S
authors.initials: TS
authors.lastname: Futers
authors.forename: P J
authors.initials: PJ
authors.lastname: Grant
mesh_terms: D000704:Analysis of Variance; D000941:Antigens / Q000032:analysis; D003062:Codon; D003327:Coronary Disease / Q000097:blood* / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics* / Q000276:immunology / Q000502:physiology; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D015337:Multicenter Studies as Topic; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: D000941:Antigens; D003062:Codon; D005176:Factor XIII