Hosák Ladislav
Department of Psychiatry, Charles University in Prague, Faculty of Medicine in Hradec Králové, Czech Republic.
Eur Psychiatry. 2007 Jul;22(5):276-81. doi: 10.1016/j.eurpsy.2007.02.002. Epub 2007 Apr 6.
The Val158Met polymorphism of the COMT gene is functional, easily detectable, and significantly related to metabolism of catecholamines, which underlie pathogenesis of a significant number of mental disorders. Evidence for the role of this polymorphism in schizophrenia, substance dependence, bipolar disorder, obsessive-compulsive disorder, anorexia nervosa and attention deficit hyperactivity disorder is summed up in this review article. The results make it unlikely that the COMT gene plays an important role in these mental disorders, although a minor effect can not be excluded. Future studies on the COMT gene in mentally ill subjects should be stratified by clinical subtypes of the disorder, gender and ethnicity. Studies of endophenotypes instead of the complex disorder seem to be another promising research strategy. Gene-gene and gene-environment interactions should also be considered. The COMT gene is probably not "a gene for" any mental disorder, but the Val158Met polymorphism appears to have pleiotropic effects on human behavior.
儿茶酚-O-甲基转移酶（COMT）基因的Val158Met多态性具有功能性，易于检测，且与儿茶酚胺代谢显著相关，而儿茶酚胺代谢是大量精神障碍发病机制的基础。本文综述了该多态性在精神分裂症、物质依赖、双相情感障碍、强迫症、神经性厌食症和注意力缺陷多动障碍中作用的证据。结果表明，COMT基因在这些精神障碍中不太可能起重要作用，尽管不能排除其有轻微影响。未来针对精神病患者COMT基因的研究应按疾病的临床亚型、性别和种族进行分层。研究内表型而非复杂疾病似乎是另一种有前景的研究策略。基因-基因和基因-环境相互作用也应予以考虑。COMT基因可能并非任何一种精神障碍的“决定基因”，但Val158Met多态性似乎对人类行为具有多效性影响。
