A single-nucleotide polymorphism tagging set for human drug metabolism and transport.


Journal Article

Interindividual variability in drug response, ranging from no therapeutic benefit to life-threatening adverse reactions, is influenced by variation in genes that control the absorption, distribution, metabolism and excretion of drugs. We genotyped 904 single-nucleotide polymorphisms (SNPs) from 55 such genes in two population samples (European and Japanese) and identified a set of tagging SNPs that represents the common variation in these genes, both known and unknown. Extensive empirical evaluations, including a direct assessment of association with candidate functional SNPs in a new, larger population sample, validated the performance of these tagging SNPs and confirmed their utility for linkage-disequilibrium mapping in pharmacogenetics. The analyses also suggest that rare variation is not amenable to tagging strategies.

Full Text

Duke Authors

Cited Authors

  • Ahmadi, KR; Weale, ME; Xue, ZY; Soranzo, N; Yarnall, DP; Briley, JD; Maruyama, Y; Kobayashi, M; Wood, NW; Spurr, NK; Burns, DK; Roses, AD; Saunders, AM; Goldstein, DB

Published Date

  • January 2005

Published In

Volume / Issue

  • 37 / 1

Start / End Page

  • 84 - 89

PubMed ID

  • 15608640

Pubmed Central ID

  • 15608640

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1488


  • eng

Conference Location

  • United States