Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Carbamazepine Dosing
Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Carbamazepine Dosing
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DOI：
10.1038/clpt.2013.103
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发表时间：
2013-09-01
影响因子：
6.7
通讯作者：
Pirmohamed, M.
中科院分区：
文献类型：
--
作者：
Leckband, S. G.;Kelsoe, J. R.;Pirmohamed, M.
人白细胞抗原B （HLA-B）是一种编码细胞表面蛋白的基因，参与将抗原呈递给免疫系统。变异等位基因HLA-B*15:02与卡马西平治疗后史蒂文斯-约翰逊综合征（SJS）和中毒性表皮坏死松解（TEN）的风险增加有关。我们总结了支持这种关联的已发表文献的证据，并根据HLA-B基因型提供卡马西平的使用建议（也可在PharmGKB上获得：http://www.pharmgkb.org）。本文的目的是为临床HLA-B*15:02基因型检测的解释提供信息，以便结果可用于指导卡马西平的使用。当HLA-B*15:02基因型结果可用时，指南提供了卡马西平的使用建议。关于替代疗法的选择、表型测试的使用、何时进行基因型测试和成本效益分析的详细指南超出了本文的范围。临床药物遗传学实施联盟（CPIC）指南定期在PharmGKB网站（http://www.pharmgkb.org）上发布和更新。
Human leukocyte antigen B (HLA-B) is a gene that encodes a cell surface protein involved in presenting antigens to the immune system. The variant allele HLA-B*15:02 is associated with an increased risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in response to carbamazepine treatment. We summarize evidence from the published literature supporting this association and provide recommendations for the use of carbamazepine based on HLA-B genotype (also available on PharmGKB: http://www.pharmgkb.org). The purpose of this article is to provide information to allow the interpretation of clinical HLA-B*15:02 genotype tests so that the results can be used to guide the use of carbamazepine. The guideline provides recommendations for the use of carbamazepine when HLA-B*15:02 genotype results are available. Detailed guidelines regarding the selection of alternative therapies, the use of phenotypic tests, when to conduct genotype testing, and cost-effectiveness analyses are beyond the scope of this document. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines are published and updated periodically on the PharmGKB website at (http://www.pharmgkb.org).