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儿茶酚-O-甲基转移酶(COMT)基因作为精神疾病表型的候选基因:证据与教训。

The catechol-O-methyl transferase (COMT) gene as a candidate for psychiatric phenotypes: evidence and lessons.

作者信息

Craddock N, Owen M J, O'Donovan M C

机构信息

Department of Psychological Medicine, The Henry Wellcome Building for Biomedical Research in Wales, Cardiff University, School of Medicine, Heath Park, Cardiff, UK.

出版信息

Mol Psychiatry. 2006 May;11(5):446-58. doi: 10.1038/sj.mp.4001808.

Abstract

The enzyme catechol-O-methyl transferase (COMT), identified in the 1950s, is involved in catabolism of monoamines that are influenced by psychotropic medications, including neuroleptics and antidepressants. The COMT gene lies in a chromosomal region of interest for psychosis and bipolar spectrum disorder and a common polymorphism within the gene alters the activity of the enzyme. As a consequence, COMT has been one of the most studied genes for psychosis. On the basis of prior probabilities it would seem surprising if functional variation at COMT did not have some influence either on susceptibility to psychiatric phenotypes, modification of the course of illness or moderation of response to treatment. There is now robust evidence that variation at COMT influences frontal lobe function. However, despite considerable research effort, it has not proved straightforward to demonstrate and characterise a clear relationship between genetic variation at COMT and psychiatric phenotypes. It is of course, possible that COMT will turn out to be an unusually intractable case but it seems more likely that the experiences with this gene will provide a foretaste of the complexity of genotype-phenotype relationships that will be found for psychiatric traits. In this review, we consider the current state of evidence and the implications both for further studies of COMT and more generally for studies of other genes.

摘要

儿茶酚-O-甲基转移酶(COMT)于20世纪50年代被发现,它参与单胺类物质的分解代谢,而单胺类物质会受到包括抗精神病药物和抗抑郁药物在内的精神药物的影响。COMT基因位于与精神病和双相情感障碍谱系相关的染色体区域,该基因内的一种常见多态性会改变酶的活性。因此,COMT一直是精神病研究最多的基因之一。基于先验概率,如果COMT的功能变异对精神病表型的易感性、疾病进程的改变或治疗反应的调节没有任何影响,那将令人惊讶。现在有确凿证据表明,COMT的变异会影响额叶功能。然而,尽管进行了大量研究,但要证明和描述COMT基因变异与精神病表型之间的明确关系并非易事。当然,有可能COMT最终会成为一个异常棘手的案例,但更有可能的是,该基因的研究经验将为精神特质的基因型-表型关系的复杂性提供一个预尝。在这篇综述中,我们考虑了当前的证据状况以及对COMT进一步研究和更广泛地对其他基因研究的意义。

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