[Future directions of pharmacogenomics (PGx)]. 2011

Naoyuki Kamatani
Center for Genomic Medicine (CGM), RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Japan. kamatani@msb.biglobe.ne.jp

The factors for the individual differences include both genetic and environmental factors. Genome-wide association study (GWAS) was first developed in RIKEN in 2002 and has now become a major research technology. In GWAS, the associations between genomic variations and the variations in the traits are analyzed by statistical genetics. As many as 100,000-2,500,000 polymorphic loci are distributed over the whole genome, and the associations between either genotypes or alleles and the phenotypes are analyzed. The phenotypes are either diseases, physical data or clinical laboratory data, and it was found that the targets of the available drugs are often included in the genes that were found to be associated with the diseases. These data indicate that the results from GWAS may be applied to the development of new drugs (GWDD; genome-wide drug discovery). GWAS started to influence pharmacogenomics in which the associations between genomic variations and drug reactions are studied. Genes associated with statin-induced severe muscle damage, efficacy of interferon for C-type hepatitis, ribavirin-induced hemolytic anemia and carbamazepine-induced severe skin eruption were found by GWAS. In 2010, "Guidelines for clinical studies and tests in which pharmacogenomics is applied" was released as a draft.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D010597 Pharmacogenetics A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION). Pharmacogenomics
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D005544 Forecasting The prediction or projection of the nature of future problems or existing conditions based upon the extrapolation or interpretation of existing scientific data or by the application of scientific methodology. Futurology,Projections and Predictions,Future,Predictions and Projections
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015195 Drug Design The molecular designing of drugs for specific purposes (such as DNA-binding, enzyme inhibition, anti-cancer efficacy, etc.) based on knowledge of molecular properties such as activity of functional groups, molecular geometry, and electronic structure, and also on information cataloged on analogous molecules. Drug design is generally computer-assisted molecular modeling and does not include PHARMACOKINETICS, dosage analysis, or drug administration analysis. Computer-Aided Drug Design,Computerized Drug Design,Drug Modeling,Pharmaceutical Design,Computer Aided Drug Design,Computer-Aided Drug Designs,Computerized Drug Designs,Design, Pharmaceutical,Drug Design, Computer-Aided,Drug Design, Computerized,Drug Designs,Drug Modelings,Pharmaceutical Designs
D017410 Practice Guidelines as Topic Works about directions or principles presenting current or future rules of policy for assisting health care practitioners in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. Clinical Guidelines as Topic,Best Practices,Best Practice
D055106 Genome-Wide Association Study An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers to identify gene candidates or quantitative trait loci associated with a specific organism trait or specific disease or condition. Genome Wide Association Analysis,Genome Wide Association Study,GWA Study,Genome Wide Association Scan,Genome Wide Association Studies,Whole Genome Association Analysis,Whole Genome Association Study,Association Studies, Genome-Wide,Association Study, Genome-Wide,GWA Studies,Genome-Wide Association Studies,Studies, GWA,Studies, Genome-Wide Association,Study, GWA,Study, Genome-Wide Association

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