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药物基因组学:从儿茶酚-O-甲基转移酶到硫嘌呤-S-甲基转移酶

Pharmacogenomics: catechol O-methyltransferase to thiopurine S-methyltransferase.

作者信息

Weinshilboum Richard M

机构信息

Division of Clinical Pharmacology, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Cell Mol Neurobiol. 2006 Jul-Aug;26(4-6):539-61. doi: 10.1007/s10571-006-9095-z. Epub 2006 Jun 29.

Abstract
  1. Pharmacogenomics is the study of the role of inheritance in variation in the drug response phenotype-a phenotype that can vary from adverse drug reactions at one end of the spectrum to lack of therapeutic efficacy at the other. 2. The thiopurine S-methyltransferase (TPMT) genetic polymorphism represents one of the best characterized and most clinically relevant examples of pharmacogenomics. This polymorphism has also served as a valuable "model system" for studies of the ways in which variation in DNA sequence might influence function. 3. The discovery and characterization of the TPMT polymorphism grew directly out of pharmacogenomic studies of catechol O-methyltransferase (COMT), an enzyme discovered by Julius (Julie) Axelrod and his coworkers. 4. This review will outline the process by which common, functionally significant genetic polymorphisms for both COMT and TPMT were discovered and will use these two methyltransferase enzymes to illustrate general principles of pharmacogenomic research-both basic mechanistic and clinical translational research-principles that have been applied to a series of genes encoding methyltransferase enzymes.
摘要
  1. 药物基因组学研究遗传因素在药物反应表型变异中的作用——这种表型的范围涵盖一端的药物不良反应到另一端的治疗无效。2. 硫嘌呤甲基转移酶(TPMT)基因多态性是药物基因组学中特征最明确、临床相关性最强的例子之一。这种多态性也为研究DNA序列变异可能影响功能的方式提供了一个有价值的“模型系统”。3. TPMT多态性的发现和特征描述直接源于儿茶酚-O-甲基转移酶(COMT)的药物基因组学研究,COMT是由朱利叶斯(朱莉)·阿克塞尔罗德及其同事发现的一种酶。4. 本综述将概述发现COMT和TPMT常见且具有功能意义的基因多态性的过程,并将利用这两种甲基转移酶来说明药物基因组学研究的一般原则——包括基础机制研究和临床转化研究原则,这些原则已应用于一系列编码甲基转移酶的基因。

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