Genetic variation and pharmacogenomics: concepts, facts, and challenges.

摘要: The analysis of genetic variation in candidate genes is an issue central importance pharmacogenomics. specific approaches taken will have a critical impact on the successful identification disease genes, molecular correlates drug response, and establishment meaningful relationships between variants phenotypes biomedical pharmaceutical general. Against historical background, this article distinguishes different to gene analysis, reflecting stages human genome research. Only recently has it become feasible analyze systematically at ultimate level resolution, ie, DNA sequence. In context, haplotype-based last been recognized; determination combinations for each two sequences defined as haplotype essential. An up-to-date summary such maximum resolution data amount, nature, structure be given. These demonstrate abundant sequence diversity. Numerous individually forms may exist. This presents major challenges variation, function, phenotype. First solutions seem within reach. implications naturally occurring pharmacogenomics “personalized” medicine are now evident. Future identification, evaluation, prioritization targets, optimization clinical trials, development efficient therapies must based in-depth knowledge essential prerequisite.