Pharmacogenomic analysis of a genetically distinct Indigenous population

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作者
Arvind Jaya Shankar
Sudhir Jadhao
Wendy Hoy
Simon J. Foote
Hardip R. Patel
Vinod Scaria
Brendan J. McMorran
Shivashankar H. Nagaraj
机构
[1] Queensland University of Technology,Centre for Genomics and Personalised Health
[2] Queensland University of Technology,Institute of Health and Biomedical Innovation
[3] University of Queensland,Faculty of Medicine
[4] Australian National University,John Curtin School of Medical Research
[5] Australian National University,National Centre for Indigenous Genomics
[6] CSIR Institute of Genomics and Integrative Biology,Translational Research Institute
[7] Queensland University of Technology,undefined
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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.
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页码:100 / 108
页数:8
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