Pharmacogenetics of Idiosyncratic Adverse Drug Reactions

作者: Munir Pirmohamed

DOI: 10.1007/978-3-642-00663-0_17

关键词: Genetic predispositionGenetic variabilityGenetic testingGeneticsDrugInternational HapMap ProjectGenotypingFlucloxacillinBioinformaticsPharmacogeneticsMedicine

摘要: Idiosyncratic adverse drug reactions are unpredictable and thought to have an underlying genetic etiology. With the completion of human genome HapMap projects, together with rapid advances in genotyping technologies, we unprecedented capabilities identifying predisposing factors for these relatively rare, but serious, reactions. The main roadblock this is lack sufficient numbers well-characterized samples from patients such This now beginning be solved through formation international consortia, including developing novel ways recruiting affected by reactions, both prospectively retrospectively. has been led research on abacavir hypersensitivity - its association HLA-B*5701 forms gold standard how need identify associations implement them clinical practice. Strong also identified as associated carbamazepine, allopurinol, flucloxacillin, statin-induced myopathy. However, most other idiosyncratic effect sizes low moderate, although may partly due fact that only small investigated limited strategies utilized. It indicate predisposition will dependent multiple genes, complex interactions environmental factors. Irrespective strength individual it important undertake functional investigations provide insights into mechanism(s) interacts gene variant lead a phenotype, which can take multitude variable severity. Such essential preventing burden caused healthcare industry.

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