Several antiplatelet gene SNPs, their haplotypes and G × E interactions on premature coronary artery disease - Report - MDSpire

Several antiplatelet gene SNPs, their haplotypes and G × E interactions on premature coronary artery disease

  • By

  • Zhong-Hai Bi

  • Si-Cong Liu

  • Ying-Hong Weng

  • Ji-Yi Chen

  • Si-Yao Li

  • Xiao-Qun Lin

  • Yan-Li Liu

  • Liu Miao

  • June 29, 2026

  • 0 min

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Clinical Report: Genetic Variants in Antiplatelet Drug Metabolism and Their Interactions Associated with Premature Coronary Artery Disease

Overview

This study investigates the influence of genetic variants in antiplatelet drug metabolism on the risk of premature coronary artery disease (PCAD). Significant associations were found between specific SNPs and haplotypes with PCAD risk.

Background

Coronary artery disease (CAD) is a leading cause of morbidity and mortality globally, with an increasing incidence of premature coronary artery disease (PCAD) defined as onset before age 55 in men and 65 in women. Identifying genetic susceptibility factors for PCAD is crucial for early detection and intervention. This study focuses on the role of genetic variants in antiplatelet drug metabolism-related genes and their interactions in influencing PCAD risk.

Data Highlights

Genetic VariantEffectP-value
rs12769205Protective< 0.05
rs3758580Increased risk< 0.05
rs4917623Increased risk< 0.05
rs1330344Increased risk< 0.05

Key Findings

  • Significant differences in genotype and allele frequencies for specific SNPs between PCAD patients and controls.
  • The dominant model of rs12769205 showed a protective effect against PCAD.
  • Haplotypes CYP2C19 G-C-C-A-A and G-C-C-C-C were protective, while several others increased PCAD risk.
  • GMDR analysis identified significant SNP-SNP interaction models affecting PCAD risk.
  • Environmental factors should be considered in the context of genetic susceptibility to PCAD.

Clinical Implications

The findings suggest the potential for genetic screening in young patients at risk for PCAD.

Conclusion

Genetic variants and their interactions influence the risk of premature coronary artery disease.

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  2. Basic Research in Cardiology, 2021 -- The Dual Role of Platelets in Myocardial Infarction: Injury and Protection—Is It Being Underappreciated?
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  4. 2025 ACC/AHA/ACEP/NAEMSP/SCAI Guideline for the Management of Patients With Acute Coronary Syndromes - American College of Cardiology
  5. CYP2C19 Genetic Testing for Oral P2Y12 Inhibitor Therapy - Professional Heart Daily | American Heart Association
  6. The Journal of Clinical Endocrinology & Metabolism — The Role of LDL-C and TC in Modulating Cardiovascular Risk Associated with PNPLA3 Inhibition
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  9. 2025 ACC/AHA/ACEP/NAEMSP/SCAI Guideline for the Management of Patients With Acute Coronary Syndromes - American College of Cardiology
  10. CYP2C19 Genetic Testing for Oral P2Y12 Inhibitor Therapy - Professional Heart Daily | American Heart Association
  11. Table of Pharmacogenomic Biomarkers in Drug Labeling | FDA
  12. Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Clopidogrel on Ischemic Outcomes After PCI
  13. A Genotype-Guided Strategy for Oral P2Y12 Inhibitors in Primary PCI | New England Journal of Medicine
  14. Real-World Implementation of a Genotype-Guided P2Y12 Inhibitor De-Escalation Strategy in Acute Coronary Syndrome Patients | JACC: Cardiovascular Interventions
  15. A narrative review of research advancements in pharmacogenetics of cardiovascular disease and impact on clinical implications
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