Department of Rheumatology, Institute of Medicine, University of Debrecen Medical and Health Science Center, Nagyerdei Street 98, 4032, Debrecen, Hungary.
Immunol Res. 2013 Jul;56(2-3):325-33. doi: 10.1007/s12026-013-8405-z.
Pharmacogenetics and pharmacogenomics deal with possible associations of a single genetic polymorphism or those of multiple gene profiles with responses to drugs. In rheumatology, genes and gene signatures may be associated with altered efficacy and/or safety of anti-inflammatory drugs, disease-modifying antirheumatic drugs (DMARDs) and biologics. In brief, genes of cytochrome P450, other enzymes involved in drug metabolism, transporters and some cytokines have been associated with responses to and toxicity of non-steroidal anti-inflammatory drugs, corticosteroids and DMARDs. The efficacy of biologics may be related to alterations in cytokine, chemokine and FcγR genes. Numerous studies reported multiple genetic signatures in association with responses to biologics; however, data are inconclusive. More, focused studies carried out in larger patient cohorts, using pre-selected genes, may be needed in order to determine the future of pharmacogenetics and pharmacogenomics as tools for personalized medicine in rheumatology.
药物遗传学和药物基因组学研究单个遗传多态性或多个基因谱与药物反应之间的可能关联。在风湿病学中，基因和基因特征可能与抗炎药物、改善病情的抗风湿药物（DMARDs）和生物制剂的疗效和/或安全性改变有关。简而言之，细胞色素 P450 基因、参与药物代谢的其他酶、转运蛋白和一些细胞因子与非甾体抗炎药、皮质类固醇和 DMARDs 的反应和毒性有关。生物制剂的疗效可能与细胞因子、趋化因子和 FcγR 基因的改变有关。许多研究报告了与生物制剂反应相关的多个遗传特征；然而，数据尚无定论。为了确定药物遗传学和药物基因组学作为风湿病学个体化医学工具的未来，可能需要在更大的患者队列中进行更有针对性的、使用预先选择的基因的研究。
