title: 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.
abstract: An approach based on development of a large archive of single-nucleotide polymorphisms (SNPs) throughout the human genome is expected to facilitate large-scale studies to identify genes associated with drug efficacy and side effects, or susceptibility to common diseases. We have already described collections of SNPs present among various genes encoding drug-metabolizing enzymes. Here we report SNPs for such enzymes at additional loci, including 8 alcohol dehydrogenases, 12 glutathione S-transferases, and 18 belonging to the NADH-ubiquinone oxidoreductase family. Among DNA samples from 48 Japanese volunteers, we identified a total of 434 SNPs at these 38 loci: 27 within coding elements, 52 in 5' flanking regions, five in 5' untranslated regions, 293 in introns, 20 in 3' untranslated regions, and 37 in 3' flanking regions. The ratio of transitions to transversions was approximately 2.1 to 1. Among the 27 coding SNPs, 13 were nonsynonymous changes that resulted in amino acid substitutions. Our collection of SNPs derived from this study should prove useful for investigations designed to detect associations between genetic variations and common diseases or responsiveness to drug therapy.
authors.affiliation: Laboratory for Genotyping, The SNP Research Center, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Iida
authors.forename: S
authors.initials: S
authors.lastname: Saito
authors.forename: A
authors.initials: A
authors.lastname: Sekine
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Kitamura
authors.forename: C
authors.initials: C
authors.lastname: Mishima
authors.forename: S
authors.initials: S
authors.lastname: Osawa
authors.forename: K
authors.initials: K
authors.lastname: Kondo
authors.forename: S
authors.initials: S
authors.lastname: Harigae
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D000426:Alcohol Dehydrogenase / Q000235:genetics*; D001483:Base Sequence; D042967:Electron Transport Complex I; D005091:Exons; D014644:Genetic Variation; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D007438:Introns; D007564:Japan; D008969:Molecular Sequence Data; D005810:Multigene Family; D009243:NAD / Q000235:genetics*; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA; D020506:Untranslated Regions / Q000235:genetics
chemical_list: D020506:Untranslated Regions; D009243:NAD; D000426:Alcohol Dehydrogenase; D009247:NADH, NADPH Oxidoreductases; D005982:Glutathione Transferase; D042967:Electron Transport Complex I