摘要
Pharmacogenetics is the study of the association between variability in drug response and （or） drug toxicity and polymorphisms in genes. The goal of this field of science is to adapt drugs to a patient＇s specific genetic background and therefore make them more efficacious and safe. In this article we describe the variants in genes that influence either the efficacy or toxicity of common drugs used in the treatment of inflammatory bowel diseases （IBD）, ulcerative colitis （UC）, and Crohn＇s disease （CD） including sulfasalazine and mesalazine, azathioprine （AZA） and 6-mercaptopurine （6-MP）, methotrexate （MTX）, glucocorticosteroids （CSs） and infliximab. Furthermore, difficulties with pharmacogenetic studies in general and more specifically in IBD are described. Although pharmacogenetics is a promising field that already contributed to a better understanding of some of the underlying mechanisms of action of drugs used in IBD, the only discovery translated until now into daily practice is the relation between thiopurine S-methyltransferase （TPMT） gene polymorphisms and hematological toxicity of thiopurine treatment. In the future it is necessary to organize studies in well characterized patient cohorts who have been uniformly treated and systematically evaluated in order to quantitate drug response more objectively. An effort should be made to collect genomic DNA from all patients enrolled in clinical drug trials after appropriate informed consent for pharmacogenetic studies.
遗传药理学是在在药反应的可变性之间的协会的学习并且(或) 在基因的药毒性和多型性。科学的这个领域的目标是使药适应一个病人的特定的基因背景因此使他们更有效、安全。在这篇文章，我们在影响的基因描述变体在煽动性的肠疾病( IBD )的治疗使用的普通的药的功效或毒性， ulcerative ( UC )，和 Crohn 包括 sulfasalazine 和 mesalazine 是疾病( CD )， azathioprine ( AZA )和 6-mercaptopurine ( 6-MP )， methotrexate ( MTX )， glucocorticosteroids ( CS )和 infliximab 。而且， pharmacogenetic 研究的困难一般来说并且更明确地在 IBD 被描述。尽管遗传药理学是已经贡献了一些药的行动的内在的机制的更好的理解的一个有希望的领域，在 IBD 使用，翻译直到现在成每日的实践的唯一的发现是在 thiopurine S-methyltransferase (TPMT ) 基因多型性和 thiopurine 治疗的 hematological 毒性之间的关系。在未来，在很好描绘的耐心的队组织研究是必要的谁一致地被对待并且系统地评估了以便测定药反应更客观地。一个努力应该被作从为 pharmacogenetic 研究在适当知情同意以后在临床的药试用注册的所有病人收集 genomic DNA。
