Related Experiment Video
Updated: Sep 28, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Polymorphisms of genes affecting thrombosis and risk of myocardial infarction
S Kakko1, T Elo, J M Tapanainen
1Department of Internal Medicine, University of Oulu, PO Box 5000, FIN-90014, Oulu, Finland. sakari.kakko@oulu.fi
Background:
As thrombosis is an essential factor in the pathogenesis of acute myocardial infarction (AMI), the genes of proteins affecting haemostasis are good candidate genes for AMI.
Design:
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagulation factor XIII (FXIII) gene (V34L) and the glycoprotein Ia (Gp1a) gene (C807T) with the occurrence of AMI were studied in 142 AMI survivors and 142 age- and sex-matched control subjects.
Results:
Among those who smoked, the L34 allele of the amino acid FXIII polymorphism was less common in the AMI patients (16%) than in the controls (27%) (P = 0.06), suggesting a possible interaction of AMI risk between the FXIII genotype and smoking status. No differences in the allele or genotype frequencies of the studied polymorphisms were seen between the whole study groups. Logistic regression analysis showed the carriers of the L34 allele of the FXIII amino acid polymorphism to have a significantly (P = 0.03) lower AMI risk compared with those homozygous for the V34 allele (odds ratio = 0.54, 95% confidence interval 0.31-0.93).
Conclusion:
The L34 allele of the amino acid polymorphism of the FXIII gene is associated with a decreased risk of AMI, and this protecting association seems to be more pronounced in smokers.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Drug Metabolism: Overview
Anticoagulant Drugs: Low-Molecular-Weight Heparins
Pharmacogenomics: Identification of New Drug Targets