A single-nucleotide polymorphism tagging set for human drug metabolism and transport.
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.
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
Volume / Issue
Start / End Page
Pubmed Central ID
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)