Genetic diversity of CYP3A5 and ABCB1 variants in East-Central and South European populations

Ann Hum Biol. 2022 Jun;49(3-4):210-215. doi: 10.1080/03014460.2022.2100477. Epub 2022 Aug 10.

Abstract

Background: CYP3A5 enzyme encoded by CYP3A5 is important for drug metabolism in gut and liver, whereas P-glycoprotein by ABCB1, is an ATP-dependent drug efflux pump which exports endo- and exogenous substances outside the cell.

Aim: The study was to assess the prevalence of CYP3A5 alleles: *1, *2, *3, *4, *6 and *7, and C and T of ABCB1 in Poles, Belarusians and Bosnians and to compare it with the data reported from other European populations.

Subjects and methods: Overall, 511 unrelated healthy subjects from Poland (n = 239), Belarus (n = 104) and Bosnia and Herzegovina (n = 168) were included in this study. Allele frequencies and statistical parameters (AMOVA version 2.9.3) were determined.

Results: In Poles, Belarusians and Bosnians the *3 allele of CYP3A5 was the most common, and wild-type allele *1, were: 5.8%, 1.6% and 2.1%, respectively. Allele *2 was very rare, and alleles *4, *6 and *7 were not detected. For the populations mentioned above, the ABCB1 allele C was: 48.1%, 51.4%, 52.4%, respectively.

Conclusion: In compared populations, the distribution of CYP3A5 variants but not ABCB1, differed significantly. Alleles *4, *6 and *7 of CYP3A5 did not occur or occurred rarely.

Keywords: ATP-binding cassette B1; SNPs; cytochrome P450 3A5; pharmacogenetics.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • Adenosine Triphosphate
  • Cytochrome P-450 CYP3A* / genetics
  • Genetic Variation
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide
  • Tacrolimus*

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • Adenosine Triphosphate
  • CYP3A5 protein, human
  • Cytochrome P-450 CYP3A
  • Tacrolimus