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Distribution of CYP2C19 genetic polymorphisms and pharmacogenomic implications in 11,710 patients with cardiovascular

Minfei Peng1,2, Minmin He1,2, Ying Chen1,2

  • 1Department of Laboratory Medicine, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.

Frontiers in Genetics
|July 14, 2026
PubMed

Insights

A study of 11,710 patients found a high prevalence of CYP2C19 loss-of-function alleles in Taizhou. This highlights the importance of CYP2C19 genotyping for personalized antiplatelet therapy in cardiovascular and cerebrovascular patients.

Area of Science:

  • Pharmacogenomics
  • Genetic Epidemiology
  • Cardiovascular Medicine

Background:

  • CYP2C19 genetic polymorphisms significantly influence antiplatelet drug efficacy.
  • Understanding the distribution of these polymorphisms is crucial for optimizing treatment in patients with cardiovascular and cerebrovascular conditions.
  • Taizhou, Zhejiang Province, has a distinct population genetic profile that warrants investigation.

Purpose of the Study:

  • To determine the frequencies of CYP2C19 genetic polymorphisms in Taizhou patients with cardiovascular and cerebrovascular diseases.
  • To assess the pharmacogenomic implications of these polymorphisms for antiplatelet therapy.
  • To provide data for genotype-guided, individualized treatment strategies.

Main Methods:

  • Retrospective analysis of 11,710 patients undergoing CYP2C19 genotyping.
  • Fluorescence-based quantitative PCR used for CYP2C19*2 and CYP2C19*3 allele detection.
  • Statistical analysis including Hardy-Weinberg equilibrium and chi-squared tests for genotype/phenotype distributions.

Main Results:

  • Allele frequencies: CYP2C19*1 (61.01%), *2 (34.11%), *3 (4.88%).
  • Metabolic phenotypes: Normal metabolizers (37.15%), Intermediate metabolizers (47.73%), Poor metabolizers (15.12%).
  • Over 62% of patients had loss-of-function alleles, indicating reduced clopidogrel responsiveness; distribution consistent with Eastern China but different from Southern/Western regions.

Conclusions:

  • High prevalence of CYP2C19 loss-of-function alleles observed in Taizhou patients with cardiovascular and cerebrovascular conditions.
  • CYP2C19 genotyping is clinically valuable for tailoring antiplatelet therapy.
  • Study provides essential genetic epidemiology data for precision medicine initiatives in this population.
Abstract

Keywords:
CYP2C19clopidogrelgenetic epidemiologygenetic polymorphismpharmacogenomics

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