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Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations
The CYP2D6 gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain under-represented in these studies. The increasing availability...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605556/ https://www.ncbi.nlm.nih.gov/pubmed/36294714 http://dx.doi.org/10.3390/jpm12101575 |
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author | Wang, Wendy Y. Twesigomwe, David Nofziger, Charity Turner, Amy J. Helmecke, Lena-Sophie Broeckel, Ulrich Derezinski, Ashley D. Hazelhurst, Scott Gaedigk, Andrea |
author_facet | Wang, Wendy Y. Twesigomwe, David Nofziger, Charity Turner, Amy J. Helmecke, Lena-Sophie Broeckel, Ulrich Derezinski, Ashley D. Hazelhurst, Scott Gaedigk, Andrea |
author_sort | Wang, Wendy Y. |
collection | PubMed |
description | The CYP2D6 gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain under-represented in these studies. The increasing availability of high coverage genomes from African populations has provided the opportunity to fill this knowledge gap. In this study, we characterized computationally predicted novel CYP2D6 star alleles in 30 African subjects for whom DNA samples were available from the Coriell Institute. CYP2D6 genotyping and resequencing was performed using a variety of commercially available and laboratory-developed tests in a collaborative effort involving three laboratories. Fourteen novel CYP2D6 alleles and multiple novel suballeles were identified. This work adds to the growing catalogue of validated African ancestry CYP2D6 allelic variation in pharmacogenomic databases, thus laying the foundation for future functional studies and improving the accuracy of CYP2D6 genotyping, phenotype prediction, and the refinement of clinical pharmacogenomic implementation guidelines in African and global settings. |
format | Online Article Text |
id | pubmed-9605556 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96055562022-10-27 Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations Wang, Wendy Y. Twesigomwe, David Nofziger, Charity Turner, Amy J. Helmecke, Lena-Sophie Broeckel, Ulrich Derezinski, Ashley D. Hazelhurst, Scott Gaedigk, Andrea J Pers Med Article The CYP2D6 gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain under-represented in these studies. The increasing availability of high coverage genomes from African populations has provided the opportunity to fill this knowledge gap. In this study, we characterized computationally predicted novel CYP2D6 star alleles in 30 African subjects for whom DNA samples were available from the Coriell Institute. CYP2D6 genotyping and resequencing was performed using a variety of commercially available and laboratory-developed tests in a collaborative effort involving three laboratories. Fourteen novel CYP2D6 alleles and multiple novel suballeles were identified. This work adds to the growing catalogue of validated African ancestry CYP2D6 allelic variation in pharmacogenomic databases, thus laying the foundation for future functional studies and improving the accuracy of CYP2D6 genotyping, phenotype prediction, and the refinement of clinical pharmacogenomic implementation guidelines in African and global settings. MDPI 2022-09-24 /pmc/articles/PMC9605556/ /pubmed/36294714 http://dx.doi.org/10.3390/jpm12101575 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Wang, Wendy Y. Twesigomwe, David Nofziger, Charity Turner, Amy J. Helmecke, Lena-Sophie Broeckel, Ulrich Derezinski, Ashley D. Hazelhurst, Scott Gaedigk, Andrea Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations |
title | Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations |
title_full | Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations |
title_fullStr | Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations |
title_full_unstemmed | Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations |
title_short | Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations |
title_sort | characterization of novel cyp2d6 alleles across sub-saharan african populations |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605556/ https://www.ncbi.nlm.nih.gov/pubmed/36294714 http://dx.doi.org/10.3390/jpm12101575 |
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