Master
English

Study of the CYP2D6 gene variation in an Ethiopian population using PacBio technology

ContributorsTawfik, Youssef
Number of pages121
Handover date2022-06-14
Defense date2022-05-06
Abstract

The CYP2D6 enzyme metabolizes ~25% of clinically used drugs. The CYP2D6 gene is a highly polymorphic gene, and specific genetic variants of CYP2D6 have been shown to be associated with different metabolism rates, but this is at present poorly documented. The interindividual differences make understanding an individual's CYP2D6 enzymatic activity vital for some medical treatments. We investigate the matching between predicted and directly measured phenotypes of CYP2D6 in a sample of healthy individuals from Addis Ababa, Ethiopia. To address the limitations of current sequencing approaches, we used PacBio technology, and we established an analysis workflow. Current results indicate a matching level of ~73% between the predicted and measured phenotypes, which suggests that besides genetic variations, environmental factors could also influence interindividual phenotype variation. Further investigations between populations living in different environments should be considered, a perspective that is now at hand with the established protocol in our study.

Keywords
  • CYP2D6
  • Ethiopia
  • PacBio
  • Long-read sequencing
  • Pharmacogenetics
  • Phenotypes
Research groups
Citation (ISO format)
TAWFIK, Youssef. Study of the CYP2D6 gene variation in an Ethiopian population using PacBio technology. Master, 2022.
Main files (1)
Master thesis
accessLevelRestricted
Identifiers
  • PID : unige:161431
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Technical informations

Creation14/06/2022 13:23:00
First validation14/06/2022 13:23:00
Update16/03/2023 06:45:19
Status update16/03/2023 06:45:18
Last indexation01/11/2024 01:55:47
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