儿茶酚氧位甲基转移酶(catechol-O-methyltransferase,COMT)是一种在人体内广泛分布的代谢酶,COMT基因突变所引起COMT表达或活性改变,与多种疾病的药物治疗反应个体差异密切相关。目前对COMT的研究主要集中在rs4680位,但是近来的一些报道显示,COMT其他突变位点的重要性同样值得关注。该文将较为全面的对COMT的遗传多态性与帕金森病、重度抑郁症、精神分裂症的药物治疗反应个体差异相关性方面的研究进行综述。
Catechol-O-methyhransferase ( COMT), one of the important metabolic enzymes, is widely distributed throughout the body. The COMT gene mutations lead to COMT expression or activity changes, which is closely related with the individual variability of response to the drug therapies in several diseases. A great quantity of studies are focusing on the rs4680, while recent studies show that other mutation sites of COMT are identicallyworth attention. This review summarizes the relationship between the polymorphism of COMT and individual variability of response to drug therapies in Parkinson's disease, major depressive disorder, schizophrenia.