Pharmacogenetic allele variant frequencies: An analysis of the VA's Million Veteran Program (MVP) as a representation of the diversity in US population

PLoS One. 2023 Feb 24;18(2):e0274339. doi: 10.1371/journal.pone.0274339. eCollection 2023.

Abstract

We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single nucleotide variant (SNV) alleles, human leukocyte antigens (HLA) 4-digit alleles and an important copy number variant (CNV), the full deletion/duplication of CYP2D6. We compiled distinct allele frequency tables for European, African American, Hispanic, and Asian ancestry individuals. In addition, we compiled allele frequencies based on local ancestry reconstruction in the African-American (2-way deconvolution) and Hispanic (3-way deconvolution) cohorts.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Gene Frequency
  • Genotype
  • Humans
  • Pharmacogenetics*
  • Veterans*

Grants and funding

This work was supported by grant #MVP000 to SP from the Million Veteran Program (MVP) from the Veterans Affairs (VA) Office of Research and Development (ORD) (www.research.va.gov). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.