title: [SNP collection, pharmacogenomics, and the future of drug therapy].
abstract: Common genetic variations may, in large part, explain genetic predispositions to common diseases and individual differences in pharmacological responsiveness. Single-nucleotide polymorphisms (SNPs) are the most frequent type of genetic variation, and are thought to be present every several-hundred bases, on average, throughout the human genome. SNPs can provide medically important information through (1) their contribution to high-density maps for studies of susceptibility to common diseases; (2) provision of genetic data for personalized medical service; and (3) identification of genes associated with the efficacy and side-effect of drugs. We have been focusing on genomic loci that encode various enzymes and transporters involved in the metabolism of drugs, and have described more than 5,500 SNP and other variations. Our collection of human variations should prove useful for investigations designed to detect associations between genetic variations and common diseases or responsiveness to drug therapy. In this review we introduce the recent progress and future direction of human genome analysis and its impact on medicine.
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000426:Alcohol Dehydrogenase / Q000235:genetics; D000970:Antineoplastic Agents / Q000378:metabolism*; D005544:Forecasting; D005982:Glutathione Transferase / Q000235:genetics; D006801:Humans; D009249:NADP / Q000235:genetics; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D015238:Sulfotransferases / Q000235:genetics
chemical_list: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D000970:Antineoplastic Agents; D009249:NADP; D000426:Alcohol Dehydrogenase; D005982:Glutathione Transferase; D015238:Sulfotransferases