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Updated: Mar 11, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Relationship between selected DNA polymorphisms and coronary artery disease complications
Marcin Wirtwein1, Olle Melander2, Marketa Sjőgren2
1Department of Pharmacology, Medical University of Gdansk, Debowa 23, 80-211 Gdansk, Poland.
Certain single nucleotide polymorphisms (SNPs) in CXCL12, LDLR, and MRAS genes are linked to increased cardiovascular complications, including Major Advanced Cardiovascular Events (MACE) and revascularization, in coronary artery disease (CAD) patients.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genomics
Background:
- Coronary heart disease (CHD) arises from complex genetic and lifestyle factors.
- Identifying genetic predispositions is crucial for understanding cardiovascular disease (CVD) risk.
- Genetic risk factors for coronary artery disease (CAD) require further elucidation.
Purpose of the Study:
- To investigate the association between specific single nucleotide polymorphisms (SNPs) and the risk of cardiovascular complications in patients with angiographically confirmed CAD.
- To evaluate the predictive value of a multi-locus genetic risk score (GRS19) for adverse cardiovascular outcomes.
Main Methods:
- A cohort of 1345 patients with CHD was followed for a median of 8.6 years.
- Nineteen single nucleotide polymorphisms (SNPs) were analyzed for associations with Major Advanced Cardiovascular Events (MACE), Acute Coronary Syndromes (ACS), and revascularization.
- A genetic risk score (GRS19) was constructed from the 19 investigated SNPs.
Main Results:
- SNPs rs1746048 (CXCL12), rs9818870 (MRAS), and rs17114036 (PPAP2B) were associated with a higher risk of MACE.
- SNPs rs1746048 (CXCL12) and rs1122608 (LDLR) were associated with an increased risk of revascularization.
- The top quartile of GRS19 showed a significant association with combined endpoints, MACE, ACS, and revascularization.
Conclusions:
- Specific SNPs in CXCL12 and LDLR are linked to revascularization risk.
- CXCL12, LPA, MRAS, and PPAP2B SNPs are associated with MACE risk.
- GRS19 effectively predicts cardiovascular complications in CAD patients with the highest genetic risk.
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