Catalog of 434 single-nucleotide polymorphisms (SNPs) in genes of the alcohol dehydrogenase, glutathione S-transferase, and nicotinamide adenine dinucleotide, reduced (NADH) ubiquinone oxidoreductase families

Citation
A. Iida et al., Catalog of 434 single-nucleotide polymorphisms (SNPs) in genes of the alcohol dehydrogenase, glutathione S-transferase, and nicotinamide adenine dinucleotide, reduced (NADH) ubiquinone oxidoreductase families, J HUM GENET, 46(7), 2001, pp. 385-407
Citations number
20
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
1434-5161 → ACNP
Volume
46
Issue
7
Year of publication
2001
Pages
385 - 407
Database
ISI
SICI code
1434-5161(2001)46:7<385:CO4SP(>2.0.ZU;2-5
Abstract
An approach based on development of a large archive of single-nucleotide po lymorphisms (SMPs) throughout the human genome is expected to facilitate: l arge-scale studies to identify genes associated with drug efficacy and side effects, or susceptibility to common diseases. We have already described c ollections of SNPs present among various genes encoding drug-metabolizing e nzymes. Here we report SNPs for such enzymes at additional loci, including 8 alcohol dehydrogenases, 12 glutathione S-transferases, and 18 belonging t o the NADH-ubiquinone oxidoreductase family. Among DNA samples from 48 Japa nese volunteers, we identified a total of 434 SNPs at these 38 loci: 27 wit hin coding elements, 52 in 5 ' flanking regions, five in 5 ' untranslated r egions, 293 in introns, 20 in 3 ' untranslated regions, and 37 in 3 ' flank ing regions. The ratio of transitions to transversions was approximately 2. 1 to 1. Among the 27 coding SNPs, 13 were nonsynonymous changes that result ed in amino acid substitutions. Our collection of SNPs derived from this st udy should prove useful for investigations designed to detect associations between genetic variations and common diseases or responsiveness to drug th erapy.