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The frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics


Amina Ammour
Meriem Aberkane
Abdallah Boudjema
Wefa Boughrara
Sounnia Mediene Benchekor

Abstract

Introduction: Pharmacogenetic markers, such as the ATP Binding Cassette (ABCB1) and cytochrome P450 (CYP) 3A5 enzymes,
play a crucial role in personalized medicine by influencing drug efficacy and toxicity based on individuals' or populations'
genetic variations.
This study aims to investigate the genetic polymorphisms of CYP3A5 (rs776746) and ABCB1 (rs1045642) in the West Algerian
population and compare the genotypes and allelic distributions with those of various ethnic groups.


Methods: The study involved 472 unrelated healthy subjects from the Western Algerian population. DNA genotyping was
performed using TaqMan allelic discrimination assay. The variants in our population were compared to those in other ethnic
groups available in the 1000 Genomes Project. Genotype and allele frequencies were calculated using the chi-square test and the
Hardy–Weinberg equilibrium (HWE)


Results: The minor allele frequencies were found to be 0.21 for CYP3A5 6986A and 0.34 for ABCB1 3435T. These frequencies
were similar to those observed in North African populations, while notable differences were observed in comparison to certain
Caucasian and African populations.


Conclusion: The difference in the allelic and genotypic distribution of these polymorphisms emphasize the need for dose adjustments
in drugs metabolized by CYP3A5 and transported by ABCB1 to optimize treatments outcomes.


Keywords: CYP3A5; ABCB1; genetic polymorphism; pharmacogenetics; West Algeria.


Journal Identifiers


eISSN: 1729-0503
print ISSN: 1680-6905