Section of Pharmacogenetics, Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
Hum Genomics. 2010 Apr;4(4):278-81. doi: 10.1186/1479-7364-4-4-278.
Pharmacogenetics affects both pharmacokinetics and pharmacodynamics, thereby influencing an individual's response to drugs, both in terms of response and adverse reactions. Within the area of pharmacogenetics, findings of genetic variation influencing drug levels have been more prevalent, and variation in the cytochrome P450 (CYP) enzymes is one of the most common causes. Much of the work concerning sequence variations in CYPs aims at finding biomarkers of use for individualised treatment, thereby increasing the treatment response, lowering the number of side effects and decreasing the overall cost of treatment regimens. For over ten years, the Human Cytochrome P450 Allele Nomenclature (CYP-allele) website (http://www.cypalleles.ki.se/) has offered a database of genetic information on CYP variants, along with effects at the molecular as well as clinical level. Thus, this database serves as an assembly of past, current and soon-to-be published information on CYP alleles and their outcome effects. The website is used by academic researchers and companies (eg as a tool in drug development and for outlining new research projects). By providing peer-reviewed genetic information on CYP enzymes, the CYP-allele website has become increasingly popular and widely used. Recently, NADPH cytochrome P450 oxidoreductase (POR), the electron donor for CYP enzymes, was included on the website, which already contains 29 CYP genes, hence POR alleles are now also designated using the star allele (POR*) nomenclature. Although most CYPs on the CYP-allele website are involved in the metabolism of xenobiotics, polymorphic enzymes with endogenous functions are also included. Each gene on the CYP-allele website has its own webpage that lists the different alleles with their nucleotide changes, their functional consequences and links to publications in which the allele has been identified and/or characterised. Thus, the CYP-allele website offers a rapid online publication of new alleles, as well as providing an overview of peer-reviewed data.
药物遗传学既影响药物代谢动力学又影响药效动力学，从而影响个体对药物的反应，包括反应和不良反应。在药物遗传学领域，发现遗传变异影响药物水平的情况更为普遍，细胞色素 P450（CYP）酶的变异是最常见的原因之一。关于 CYP 序列变异的大部分工作旨在寻找用于个体化治疗的生物标志物，从而提高治疗反应，降低副作用的数量，并降低治疗方案的总体成本。十年来，人类细胞色素 P450 等位基因命名法（CYP-allele）网站（http://www.cypalleles.ki.se/）提供了 CYP 变体的遗传信息数据库，以及分子和临床水平的影响。因此，该数据库是 CYP 等位基因及其结果影响的过去、现在和即将发布的信息的集合。该网站被学术研究人员和公司使用（例如，作为药物开发的工具，以及用于概述新的研究项目）。通过提供 CYP 酶的同行评审遗传信息，CYP-allele 网站变得越来越受欢迎和广泛使用。最近，NADPH 细胞色素 P450 氧化还原酶（POR），即 CYP 酶的电子供体，被包括在该网站上，该网站已经包含 29 个 CYP 基因，因此 POR 等位基因现在也使用星号等位基因（POR*）命名法指定。尽管 CYP-allele 网站上的大多数 CYP 都参与了外源性物质的代谢，但也包括具有内源性功能的多态性酶。CYP-allele 网站上的每个基因都有自己的网页，列出了具有核苷酸变化的不同等位基因、它们的功能后果以及与已鉴定和/或特征化等位基因的出版物的链接。因此，CYP-allele 网站提供了新等位基因的快速在线发表，并提供了同行评审数据的概述。
