Genetic variability in stroke patients: CYP2C19 polymorphisms unraveled

BMC Med Genomics. 2024 Apr 26;17(1):109. doi: 10.1186/s12920-024-01886-8.

Abstract

Objective: To study the distribution characteristics of CYP2C19 polymorphisms in patients suffering from stroke in Han Chinese patients.

Method: PCR and DNA microarray chip technology were used to detect the CYP2C19 genotype of 549 patients with stroke, and the genotype, allele frequency and metabolic type of patients with different sexes, ages and types of infarctions and the independent risk factors for clopidogrel resistance were analyzed.

Results: Six genotypes were detected in these 549 patients. A total of 233 (42.44%) patients had the heterozygous allele *1/*2, which was the most prevalent, followed by the homozygous wild-type allele *1/*1 (191, 34.79%). A total of 30 (5.46%) patients possessed the heterozygous allele *1/*3, and 65 (11.84%) patients had the homozygous mutant allele *2/*2. Twenty-nine (5.28%) patients had the compound heterozygous mutant allele *2/*3, and only 1 patient had the homozygous mutant allele *3/*3. The distribution of genotypes, alleles, and metabolic types did not change significantly (P > 0.05) by sex, age, or type of stroke. In addition, no independent risk factors for clopidogrel resistance were found in this analysis.

Conclusion: The distribution of CYP2C19 genotypes, allele frequencies, and metabolic types in patients with stroke in Han Chinese patients were not correlated with sex, age, or infarction type. The possibilities of hyperglycemia, hypercholesterolemia, hypertriglyceridemia, hypo-HDL-cholesterolemia, hyper-LDL-cholesterolemia and high blood pressure were not statistically associated with CYP2C19 genotypes. CYP2C19 gene polymorphism detection is recommended for patients who are available, and during treatment, the CYP2C19 genotype can be used to guide personalized precise medication use in patients with stroke.

Keywords: CYP2C19; Clopidogrel; Gene polymorphism; Stroke.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Clopidogrel / therapeutic use
  • Cytochrome P-450 CYP2C19* / genetics
  • Drug Resistance / genetics
  • Female
  • Gene Frequency*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Risk Factors
  • Stroke* / genetics

Substances

  • Cytochrome P-450 CYP2C19
  • CYP2C19 protein, human
  • Clopidogrel