Related Experiment Video
Updated: Jul 9, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction
Joshua W Knowles1, Huijan Wang, Haruka Itakura
1Stanford University School of Medicine, Stanford, CA 94305-5405, USA.
Insights
Genetic variations in coagulation genes may influence acute myocardial infarction (MI) risk. Specific single nucleotide polymorphisms (SNPs) in CD36, ITGB3, and THBD showed associations with MI in coronary artery disease patients.
Area of Science:
- Cardiovascular Genetics
- Hemostasis and Thrombosis
Background:
- Genetic polymorphisms can disrupt the coagulation-fibrinolysis balance.
- This imbalance may increase susceptibility to acute myocardial infarction (MI) in individuals with coronary atherosclerosis.
Purpose of the Study:
- To investigate the association between genetic polymorphisms in coagulation system genes and the risk of acute myocardial infarction (MI).
- To compare the frequency of specific single nucleotide polymorphisms (SNPs) between patients presenting with acute MI and those with stable exertional angina.
Main Methods:
- Genotyped 49 single nucleotide polymorphisms (SNPs) in 9 coagulation system genes.
- Enrolled 1375 patients with coronary disease, comparing those with acute MI to those with stable exertional angina.
Main Results:
- An SNP in CD36 (rs3211956) was more common in acute MI patients (10.5%) vs. stable angina (8.0%), P=.04.
- Associations for SNPs in ITGB3 and THBD were not statistically significant but showed trends.
- The CD36 association became marginally significant after adjusting for cardiac risk factors (OR 1.34, P=.053).
Conclusions:
- Nominal associations were found between four SNPs in platelet glycoprotein and hemostatic genes and acute MI presentation.
- These findings suggest a potential role for these genetic variations but require validation in larger cohorts.
Background:
Genetic polymorphisms may affect the balance between coagulation and fibrinolysis and thereby affect individual vulnerability to acute myocardial infarction (MI) among patients with underlying coronary atherosclerosis.
Methods:
We enrolled 1375 patients with an initial clinical presentation of coronary disease. We genotyped 49 single nucleotide polymorphisms (SNPs) in 9 coagulation system genes and compared patients who had an initial acute MI with patients who presented with stable exertional angina.
Results:
An SNP in CD36 (rs3211956) was significantly (P = .04) more common among patients who presented with acute MI (minor allele frequency 10.5%) than patients with stable exertional angina (minor allele frequency 8.0%). This association became marginally significant, however, after adjustment for conventional cardiac risk factors in an additive genetic model (odds ratio 1.34, CI 1.00-1.88, P = .053). An SNP in ITGB3 (Leu59Pro, rs5918) was slightly, but not significantly (P = .083), more common among patients with acute MI (minor allele frequency 14.5%) than among patients with stable exertional angina (minor allele frequency 12.0%). Two linked SNPs in THBD (Ala473Val, rs1042579; and rs3176123) were slightly, but not significantly (P = .079 and 0.052, respectively), less common among patients with acute MI (minor allele frequency 16.1%) than among patients with stable exertional angina (18.7% and 19.0%, respectively).
Conclusions:
Four SNPs in platelet glycoprotein and hemostatic genes were nominally associated with acute MI rather than stable exertional angina as the initial clinical presentation of coronary artery disease. These findings are suggestive but require independent confirmation in larger studies.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Antiplatelet Drugs: Prostaglandin Synthesis, P2Y12 and Glycoprotein IIb/IIIa Inhibitors
Prostaglandin synthesis inhibitors, exemplified by the widely known aspirin, wield their power by irreversibly acetylating...
Anticoagulant Drugs: Low-Molecular-Weight Heparins
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Principles of Pharmacogenetics: Types of Genetic Variants
