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Standardized Biogeographic Grouping System for Annotating Populations in Pharmacogenetic Research
Author(s) -
Huddart Rachel,
Fohner Alison E.,
WhirlCarrillo Michelle,
Wojcik Genevieve L.,
Gignoux Christopher R.,
Popejoy Alice B.,
Bustamante Carlos D.,
Altman Russ B.,
Klein Teri E.
Publication year - 2019
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1002/cpt.1322
Subject(s) - pharmacogenetics , pharmacogenomics , allele , allele frequency , evolutionary biology , genetic diversity , ethnic group , population , biology , scale (ratio) , geography , genetics , data science , demography , political science , genotype , computer science , gene , cartography , sociology , law
The varying frequencies of pharmacogenetic alleles among populations have important implications for the impact of these alleles in different populations. Current population grouping methods to communicate these patterns are insufficient as they are inconsistent and fail to reflect the global distribution of genetic variability. To facilitate and standardize the reporting of variability in pharmacogenetic allele frequencies, we present seven geographically defined groups: American, Central/South Asian, East Asian, European, Near Eastern, Oceanian, and Sub‐Saharan African, and two admixed groups: African American/Afro‐Caribbean and Latino. These nine groups are defined by global autosomal genetic structure and based on data from large‐scale sequencing initiatives. We recognize that broadly grouping global populations is an oversimplification of human diversity and does not capture complex social and cultural identity. However, these groups meet a key need in pharmacogenetics research by enabling consistent communication of the scale of variability in global allele frequencies and are now used by Pharmacogenomics Knowledgebase (PharmGKB).