Clinically relevant pharmacogenetic markers in Tatars and Balkars

Mol Biol Rep. 2020 May;47(5):3377-3387. doi: 10.1007/s11033-020-05416-4. Epub 2020 Apr 17.

Abstract

This study was aimed to investigate the prevalence of CYP2C9*2 (p.430C > T, rs1799853), CYP2C9*3 (p.1075A > C, rs1057910), CYP4F2*3 (p.1297G > A, rs2108622), CYP2C19*2 (p.681G > A, rs4244285), CYP2C19*3 (p.636G > A, rs4986893), CYP2C19*17 (p.1260C > A, rs12248560), ABCB1 (p.3435C > T, rs1045642), CYP2D6*4 (p.1846G > A, rs3892097), SLCO1B1*5 (p.521T > C, rs4149056) and CES1 (p.1168-33A > C, rs2244613) among Tatars and Balkars ethnic groups living in Russia to provide a basis for future clinical studies concerning on understanding of population-level differences in drug response. The study involved 341 apparently healthy, unrelated, and chronic medication-free volunteers of both sexes of ethnic groups of Tatars and Balkars living in Volga and Caucasus regions of Russia. Genotyping was performed using real-time polymerase chain reaction-based methods. The allelic prevalence of studied markers in ethnic groups were compared with Russians as a largest ethnic group in Russia. Statistically significant differences for the following gene polymorphisms were found between both ethnic groups in respect of different markers and with Russians. Our study shows differences in prevalence of the main relevant pharmacogenetic markers in Tatars and Balkars. These findings should be taken into consideration for personalization algorithms development and pharmacogenetics implementation in regions with ethnic minorities as Russia has.

Keywords: Balkars; Ethnicity; Pharmacogenetics; Tatars.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • Adult
  • Biomarkers, Pharmacological / metabolism*
  • Carboxylic Ester Hydrolases / genetics
  • Cytochrome P-450 CYP2C19 / genetics
  • Cytochrome P-450 CYP2C9 / genetics
  • Cytochrome P-450 CYP2D6 / genetics
  • Cytochrome P450 Family 4 / genetics
  • Ethnicity / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Liver-Specific Organic Anion Transporter 1 / genetics
  • Male
  • Pharmacogenetics / methods
  • Polymorphism, Single Nucleotide
  • Russia / epidemiology
  • Transcriptome
  • White People / genetics*

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • Biomarkers, Pharmacological
  • Liver-Specific Organic Anion Transporter 1
  • SLCO1B1 protein, human
  • Cytochrome P-450 CYP2C9
  • CYP2C19 protein, human
  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2D6
  • Cytochrome P450 Family 4
  • CYP4F2 protein, human
  • Carboxylic Ester Hydrolases
  • CES1 protein, human