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start [2017/06/24 17:24]
bioadmin [6.4 药物基因组学]
start [2017/06/24 17:24] (当前版本)
bioadmin [6.4 药物基因组学]
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 ==== 6.4 药物基因组学 ==== ==== 6.4 药物基因组学 ====
  
-Establishing the effects of variants in genes involved with drug metabolism is challenging,​ in part because a phenotype is only apparent upon exposure to a drug. Still, variants in genes related to drug efficacy and risk for adverse events have been described and are increasingly used in clinical care. Gene summaries and clinically relevant variants can be found in the Pharmacogenomics Knowledge Base (http://​www.pharmgkb. org/). Alleles and nomenclature for the cytochrome P450 gene family is available at http://​www.cypalleles.ki.se/​. Although the interpretation of PGx variants is beyond the scope of this document, we include a discussion of the challenges and distinctions associated with the interpretation and reporting of PGx results.+Establishing the effects of variants in genes involved with drug metabolism is challenging,​ in part because a phenotype is only apparent upon exposure to a drug. Still, variants in genes related to drug efficacy and risk for adverse events have been described and are increasingly used in clinical care. Gene summaries and clinically relevant variants can be found in the Pharmacogenomics Knowledge Base (http://​www.pharmgkb.org/​). Alleles and nomenclature for the cytochrome P450 gene family is available at http://​www.cypalleles.ki.se/​. Although the interpretation of PGx variants is beyond the scope of this document, we include a discussion of the challenges and distinctions associated with the interpretation and reporting of PGx results.
  
 确认基因变异在药物代谢中的作用具有挑战性,部分原因在于其表型只有在接触药物后才得以显现。不过,临床上现已报告了各种与药物疗效和副作用风险相关的基因变异,且其数量仍然在不断增加。相关基因的汇总及其有临床意义的变异可查询药物基因组学知识库网站(http://​www.pharmgkb.org/​)。有关细胞色素P450基因家族等位基因及其命名可查询网站http://​www.cypalleles.ki.se/​。尽管解读药物基因组变异已超出了本文的范围,还是对与解读及报告药物基因组结果相关的挑战和鉴别进行了讨论。 确认基因变异在药物代谢中的作用具有挑战性,部分原因在于其表型只有在接触药物后才得以显现。不过,临床上现已报告了各种与药物疗效和副作用风险相关的基因变异,且其数量仍然在不断增加。相关基因的汇总及其有临床意义的变异可查询药物基因组学知识库网站(http://​www.pharmgkb.org/​)。有关细胞色素P450基因家族等位基因及其命名可查询网站http://​www.cypalleles.ki.se/​。尽管解读药物基因组变异已超出了本文的范围,还是对与解读及报告药物基因组结果相关的挑战和鉴别进行了讨论。