Key result
Polymorphisms at codons 564, 650, and 651 of the FXIII A-subunit gene did not differ in prevalence between 275 CAD patients and 196 controls, though codon 564 T allele lowered FXIII activity.
Case-Control (n=471)
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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.
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Köhler et al. (1999) conducted a case-control in Coronary artery disease (n=471). Factor XIII A-subunit gene polymorphisms (codon 564 C to T, 650 G to A, and 651 G to C) vs. Controls without coronary artery disease / subjects with wild-type alleles was evaluated on Prevalence of polymorphisms in patients vs controls and association with FXIII activity and antigen levels. Polymorphisms at codons 564, 650, and 651 of the FXIII A-subunit gene did not differ in prevalence between 275 CAD patients and 196 controls, though codon 564 T allele lowered FXIII activity.
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