Pharmacogenomic analysis of a genetically distinct Indigenous population.
Journal
The pharmacogenomics journal
ISSN: 1473-1150
Titre abrégé: Pharmacogenomics J
Pays: United States
ID NLM: 101083949
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
01
04
2021
accepted:
10
11
2021
revised:
08
11
2021
pubmed:
27
11
2021
medline:
6
4
2022
entrez:
26
11
2021
Statut:
ppublish
Résumé
Indigenous Australians face a disproportionately severe burden of chronic disease relative to other Australians, with elevated rates of morbidity and mortality. While genomics technologies are slowly gaining momentum in personalised treatments for many, a lack of pharmacogenomic research in Indigenous peoples could delay adoption. Appropriately implementing pharmacogenomics in clinical care necessitates an understanding of the frequencies of pharmacologically relevant genetic variants within Indigenous populations. We analysed whole-genome sequence data from 187 individuals from the Tiwi Islands and characterised the pharmacogenomic landscape of this population. Specifically, we compared variant profiles and allelic distributions of previously described pharmacologically significant genes and variants with other population groups. We identified 22 translationally relevant pharmacogenomic variants and 18 clinically actionable guidelines with implications for drug dosing and treatment of conditions including heart disease, diabetes and cancer. We specifically observed increased poor and intermediate metabolizer phenotypes in the CYP2C9 (PM:19%, IM:44%) and CYP2C19 (PM:18%, IM:44%) genes.
Identifiants
pubmed: 34824386
doi: 10.1038/s41397-021-00262-4
pii: 10.1038/s41397-021-00262-4
doi:
Substances chimiques
Cytochrome P-450 CYP2C9
EC 1.14.13.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
100-108Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Nature Limited.
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