Dataset Information

The global spectrum of protein-coding pharmacogenomic diversity.

ABSTRACT: Differences in response to medications have a strong genetic component. By leveraging publically available data, the spectrum of such genomic variation can be investigated extensively. Pharmacogenomic variation was extracted from the 1000 Genomes Project Phase 3 data (2504 individuals, 26 global populations). A total of 12?084 genetic variants were found in 120 pharmacogenes, with the majority (90.0%) classified as rare variants (global minor allele frequency <0.5%), with 52.9% being singletons. Common variation clustered individuals into continental super-populations and 23 pharmacogenes contained highly differentiated variants (FST>0.5) for one or more super-population comparison. A median of three clinical variants (PharmGKB level 1A/B) was found per individual, and 55.4% of individuals carried loss-of-function variants, varying by super-population (East Asian 60.9%>African 60.1%>South Asian 60.3%>European 49.3%>Admixed 39.2%). Genome sequencing can therefore identify clinical pharmacogenomic variation, and future studies need to consider rare variation to understand the spectrum of genetic diversity contributing to drug response.

SUBMITTER: Wright GEB

PROVIDER: S-EPMC5817389 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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The global spectrum of protein-coding pharmacogenomic diversity.

Wright G E B GEB Carleton B B Hayden M R MR Ross C J D CJD

The pharmacogenomics journal 20161025 1

Differences in response to medications have a strong genetic component. By leveraging publically available data, the spectrum of such genomic variation can be investigated extensively. Pharmacogenomic variation was extracted from the 1000 Genomes Project Phase 3 data (2504 individuals, 26 global populations). A total of 12 084 genetic variants were found in 120 pharmacogenes, with the majority (90.0%) classified as rare variants (global minor allele frequency <0.5%), with 52.9% being singletons. ...[more]

PMID: 27779249

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Dataset Information

The global spectrum of protein-coding pharmacogenomic diversity.

Publications

The global spectrum of protein-coding pharmacogenomic diversity.

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