Analysis of pharmacogenomic very important pharmacogenomic variants: CYP3A5, ACE, PTGS2 and NAT2 genes in Chinese Bai population

Per Med. 2022 Sep;19(5):403-410. doi: 10.2217/pme-2021-0157. Epub 2022 Jul 8.

Abstract

Aim: Our study aimed to screen the genotype frequencies of very important pharmacogenomic (VIP) mutations and identify their differences between Bai and other populations. Materials & methods: We selected 66 VIP variants from PharmGKB (www.pharmgkb.org/) for genotyping. χ2 test was used to identify differences in loci between these populations and FST values of Bai and the other 26 populations were analyzed. Results: Our study showed that the frequencies of SNPs of CYP3A5, ACE, PTGS2 and NAT2 differed significantly from those of the other 26 populations. At the same time, we found that some VIP variants may affect the metabolism of drugs and the genetic relationship between the Bai population and East Asian populations was found to be the closest. Conclusion: By comparing the genotype frequencies of different populations, the loci with significant differences were identified and discussed, providing a theoretical basis for individualized drug use in the Bai ethnic population.

Keywords: ACE PTGS2; Bai population; CYP3A5; NAT2; genetic diversity; pharmacogenomics.

MeSH terms

  • Angiotensin-Converting Enzyme 2 / metabolism
  • Arylamine N-Acetyltransferase* / genetics
  • China
  • Cyclooxygenase 2 / genetics
  • Cytochrome P-450 CYP3A / genetics
  • Gene Frequency / genetics
  • Humans
  • Peptidyl-Dipeptidase A / metabolism
  • Pharmacogenetics
  • Pharmacogenomic Variants*

Substances

  • CYP3A5 protein, human
  • Cytochrome P-450 CYP3A
  • Cyclooxygenase 2
  • PTGS2 protein, human
  • Arylamine N-Acetyltransferase
  • NAT2 protein, human
  • ACE protein, human
  • Peptidyl-Dipeptidase A
  • ACE2 protein, human
  • Angiotensin-Converting Enzyme 2