| Title: | Pharmacogenetics at Scale: An Analysis of the UK Biobank |
| Journal: | Clinical Pharmacology & Therapeutics |
| Published: | 17 Dec 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33237584/ |
| DOI: | https://doi.org/10.1002/cpt.2122 |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144239 |
Publication 3389
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Abstract
Pharmacogenetics (PGx) studies the influence of genetic variation on drug response. Clinically actionable associations inform guidelines created by the Clinical Pharmacogenetics Implementation Consortium (CPIC), but the broad impact of genetic variation on entire populations is not well understood. We analyzed PGx allele and phenotype frequencies for 487,409 participants in the UK Biobank, the largest PGx study to date. For 14 CPIC pharmacogenes known to influence human drug response, we find that 99.5% of individuals may have an atypical response to at least 1 drug; on average they may have an atypical response to 10.3 drugs. Nearly 24% of participants have been prescribed a drug for which they are predicted to have an atypical response. Non-European populations carry a greater frequency of variants that are predicted to be functionally deleterious; many of these are not captured by current PGx allele definitions. Strategies for detecting and interpreting rare variation will be critical for enabling broad application of pharmacogenetics.</p>
6 Authors
- Gregory McInnes
- Adam Lavertu
- Katrin Sangkuhl
- Teri E. Klein
- Michelle Whirl-Carrillo
- Russ B. Altman
1 Application
| Application ID | Title |
|---|---|
| 33722 | Identifying precision drug treatments by linking phenotype and genotype in drug response |
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