Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
Department of Epidemiology, University of Washington, Seattle, Washington, USA.
Clin Pharmacol Ther. 2019 May;105(5):1256-1262. doi: 10.1002/cpt.1322. Epub 2019 Jan 21.
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).
人群中药物遗传学等位基因的不同频率对这些等位基因在不同人群中的影响有重要意义。目前用于交流这些模式的人群分组方法不够充分，因为它们不一致，并且未能反映遗传变异的全球分布。为了促进和规范药物遗传学等位基因频率变异性的报告，我们提出了七个地理定义的群体：美洲、中/南亚、东亚、欧洲、近东、大洋洲和撒哈拉以南非洲，以及两个混合群体：非裔美国/加勒比黑人和拉丁裔。这九个群体是根据全球常染色体遗传结构和大规模测序计划的数据定义的。我们认识到，将全球人群广泛分组是对人类多样性的过度简化，无法捕捉到复杂的社会和文化认同。然而，这些群体通过能够一致地交流全球等位基因频率变异性的规模，满足了药物遗传学研究的一个关键需求，现在已被 Pharmacogenomics Knowledgebase (PharmGKB) 使用。
