CYP3A4*18 and CYP3A5*3 single nucleotide polymorphisms in an Azerbaijani population

Nigar Karimova; Aypara Hasanova; Bayram Bayramov

Nigar Karimova HumanGenetics Laboratory, Biotechnology Department, Genetic Resources Institute of Azerbaijan National Academy of Sciences, Baku, Azerbaijan
Aypara Hasanova Leukemogenesis Laboratory, Institute of Hematology and Transfusiology named after B.Eyvazov, Baku, Azerbaijan http://orcid.org/0000-0001-5756-6476
Bayram Bayramov HumanGenetics Laboratory, Biotechnology Department, Genetic Resources Institute of Azerbaijan National Academy of Sciences, Baku, Azerbaijan http://orcid.org/0000-0002-5176-2174

Keywords: CYP3A4; CYP3A5; PCR-RFLP; Cytochrome P450; Azerbaijani

Abstract

Aim: The human cytochrome CYP3A isoenzymes collectively cover the largest portion of the liver CYP protein, where they play a crucial role in the metabolism of 45-60% of all drugs. Among the SNPs of CYP3A isoforms, CYP3A4*18 andCYP3A5*3 variants are the most common allelic variations, which may play a significant role in the metabolism of many drugs. The aim of this study was to identify the frequency of both CYP3A4*18 and CYP3A5*3 polymorphisms in the Azerbaijani population.

Methods: We identified CYP3A4*18 and CYP3A5*3 allelic and genotype frequencies in 100 Azerbaijani individuals by using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique. The results were confirmed by next-generation and Sanger sequencing.

Results: The CYP3A5*3*/3* allele frequency was 97.5% (95 out of 100), with the *1 allele frequency being 2.5% (5 out of 100). All samples (100/100) were wildtype for the CYP3A4*18 allele.

Conclusion: In conclusion, this small-scale study suggests that 95% of Azerbaijani individuals with CYP3A5*3/*3 genotype might fail to express CYP3A5 protein. Therefore, our results highlight the importance of genotyping of CYP3A5*3 and CYP3A4*18 as well as demonstrate a demand for further investigations to evaluate their clinical relevance using a larger sample size.