A single-nucleotide polymorphism tagging set for human drug metabolism and transport
- 19 December 2004
- journal article
- letter
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 37 (1), 84-89
- https://doi.org/10.1038/ng1488
Abstract
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 drugs1. 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.Keywords
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