A Single-Nucleotide Polymorphism Tagging Set for Human Drug Metabolism and Transport

Nat Genet. 2005 Jan;37(1):84-9. doi: 10.1038/ng1488. Epub 2004 Dec 19.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytochrome P-450 Enzyme System / genetics
  • Cytochrome P-450 Enzyme System / metabolism
  • Humans
  • Pharmaceutical Preparations / metabolism*
  • Pharmacokinetics*
  • Polymorphism, Single Nucleotide*


  • Pharmaceutical Preparations
  • cytochrome P-450 CYP2C subfamily
  • Cytochrome P-450 Enzyme System