Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations.

ABSTRACT: Cytochrome P450 2D6 (CYP2D6) is a key enzyme in drug response owing to its involvement in the metabolism of ~ 25% of clinically prescribed medications. The encoding CYP2D6 gene is highly polymorphic, and many pharmacogenetics studies have been performed worldwide to investigate the distribution of CYP2D6 star alleles (haplotypes); however, African populations have been relatively understudied to date. In this study, the distributions of CYP2D6 star alleles and predicted drug metabolizer phenotypes-derived from activity scores-were examined across multiple sub-Saharan African populations based on bioinformatics analysis of 961 high-depth whole genome sequences. This was followed by characterization of novel star alleles and suballeles in a subset of the participants via targeted high-fideli

SUBMITTER: Twesigomwe D 

PROVIDER: S-EPMC9957841 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature