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Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population

BACKGROUND: Cytochrome P450 (CYP2B6) is an important enzyme that metabolizes about 3.0% of therapeutic drugs. Drugs metabolized mainly by CYP2B6 include artemisinin, bupropion, cyclophosphamide, efavirenz, ketamine, and methadone. The genetic polymorphisms in the CYP2B6 gene have earlier been studie...

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Autores principales: Ahmed, Sagheer, Khan, Saeed, Janjua, Kholood, Imran, Imran, Khan, Arif Ullah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104158/
https://www.ncbi.nlm.nih.gov/pubmed/33599403
http://dx.doi.org/10.1002/mgg3.1527
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author Ahmed, Sagheer
Khan, Saeed
Janjua, Kholood
Imran, Imran
Khan, Arif Ullah
author_facet Ahmed, Sagheer
Khan, Saeed
Janjua, Kholood
Imran, Imran
Khan, Arif Ullah
author_sort Ahmed, Sagheer
collection PubMed
description BACKGROUND: Cytochrome P450 (CYP2B6) is an important enzyme that metabolizes about 3.0% of therapeutic drugs. Drugs metabolized mainly by CYP2B6 include artemisinin, bupropion, cyclophosphamide, efavirenz, ketamine, and methadone. The genetic polymorphisms in the CYP2B6 gene have earlier been studied in many populations, but the data are lacking for the Pakistani population. This research study aimed to determine the frequencies of the three of the most important variant alleles and genotypes of the CYP2B6 gene in the Pakistani population. METHODS: Blood was withdrawn from healthy volunteers after taking informed consent. DNA was extracted using commercial kits, and allelic and genotype frequencies were determined after PCR amplification followed by restriction fragment length polymorphism (RFLP) and gel electrophoresis. RESULTS: Our results show a minor allele frequency of 33.8% for CYP2B6*6, 25.8% for CYP2B6*4, 6.5% for CYP2B6*3, whereas wild‐type genotype frequency was 48.57% for CYP2B6*6, 59.79% for CYP2B6*4, and 90.20% for CYP2B6*3. A significant interethnic variation was also observed. CONCLUSIONS: Our results suggest that the frequency of poor metabolizers of CYP2B6, especially *6 variant, is significant enough in the Pakistani population to be given an important consideration when drugs metabolized by this enzyme are prescribed.
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spelling pubmed-81041582021-05-10 Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population Ahmed, Sagheer Khan, Saeed Janjua, Kholood Imran, Imran Khan, Arif Ullah Mol Genet Genomic Med Original Articles BACKGROUND: Cytochrome P450 (CYP2B6) is an important enzyme that metabolizes about 3.0% of therapeutic drugs. Drugs metabolized mainly by CYP2B6 include artemisinin, bupropion, cyclophosphamide, efavirenz, ketamine, and methadone. The genetic polymorphisms in the CYP2B6 gene have earlier been studied in many populations, but the data are lacking for the Pakistani population. This research study aimed to determine the frequencies of the three of the most important variant alleles and genotypes of the CYP2B6 gene in the Pakistani population. METHODS: Blood was withdrawn from healthy volunteers after taking informed consent. DNA was extracted using commercial kits, and allelic and genotype frequencies were determined after PCR amplification followed by restriction fragment length polymorphism (RFLP) and gel electrophoresis. RESULTS: Our results show a minor allele frequency of 33.8% for CYP2B6*6, 25.8% for CYP2B6*4, 6.5% for CYP2B6*3, whereas wild‐type genotype frequency was 48.57% for CYP2B6*6, 59.79% for CYP2B6*4, and 90.20% for CYP2B6*3. A significant interethnic variation was also observed. CONCLUSIONS: Our results suggest that the frequency of poor metabolizers of CYP2B6, especially *6 variant, is significant enough in the Pakistani population to be given an important consideration when drugs metabolized by this enzyme are prescribed. John Wiley and Sons Inc. 2021-02-18 /pmc/articles/PMC8104158/ /pubmed/33599403 http://dx.doi.org/10.1002/mgg3.1527 Text en © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Ahmed, Sagheer
Khan, Saeed
Janjua, Kholood
Imran, Imran
Khan, Arif Ullah
Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
title Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
title_full Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
title_fullStr Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
title_full_unstemmed Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
title_short Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
title_sort allelic and genotype frequencies of major cyp2b6 polymorphisms in the pakistani population
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104158/
https://www.ncbi.nlm.nih.gov/pubmed/33599403
http://dx.doi.org/10.1002/mgg3.1527
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