Allelic frequencies of polymorphism c.521T>C (rs4149056) favor preemptive SLCO1B1 genotyping in Armenia

Drug Metab Pers Ther. 2024 Jul 15;39(3):159-161. doi: 10.1515/dmpt-2024-0018. eCollection 2024 Sep 1.

Abstract

Objectives: Statins represent an important pharmacological factor for the prevention of cardiovascular diseases but may also cause severe cases of myotoxicity. Numerous studies have described the association of the SLCO1B1 gene variant c.521C with statin-induced myopathy across different populations. This study aimed at evaluating the usefulness of preemptive SLCO1B1 genotyping in Armenia.

Methods: A total of 202 Armenian patients referred to the Center of Medical Genetics and Primary Health Care in Yerevan for upper respiratory tract infection between January and May 2022 were included in this study. Genotyping for SLCO1B1 c.521T>C (rs4149056) was performed using a commercially available real-time PCR assay (RealFast™).

Results: In total, 3/202 (1.5 %) samples were C/C homozygotes and 52/202 (25.7 %) were T/C heterozygotes, associated with a high and increased risk for statin-induced myopathy, respectively. The SLCO1B1 c.521C allelic frequency was 14.4 %.

Conclusions: The observed allele frequency of 14.4 % for the c.521C variant is slightly lower than frequencies reported from Europe, but relatively high compared to Asian populations, suggesting that preemptive SLCO1B1 genotyping could be a useful approach for the reduction of statin-induced adverse effects in Armenia.

Keywords: SLCO1B1 c.521T>C; Armenia; allelic frequency; polymorphism.

MeSH terms

  • Adult
  • Aged
  • Armenia
  • Female
  • Gene Frequency*
  • Genotype*
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors* / administration & dosage
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors* / adverse effects
  • Liver-Specific Organic Anion Transporter 1* / genetics
  • Male
  • Middle Aged
  • Muscular Diseases / chemically induced
  • Muscular Diseases / genetics
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Liver-Specific Organic Anion Transporter 1
  • SLCO1B1 protein, human
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors