Nunokawa Ayako, Watanabe Yuichiro, Muratake Tatsuyuki, Kaneko Naoshi, Koizumi Masataka, Someya Toshiyuki
Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, 757 Asahimachidori-ichibancho, Niigata 951-8510, Japan.
Neurosci Res. 2007 Jul;58(3):291-6. doi: 10.1016/j.neures.2007.03.015. Epub 2007 Apr 7.
Catechol-O-methyltransferase (COMT) is one of the enzymes that degrade catecholamine neurotransmitters including dopamine. The COMT gene is located on 22q11.2, a common susceptibility locus for schizophrenia. Therefore, COMT is a strong functional and positional candidate gene for schizophrenia. A common functional polymorphism (rs4680, Val158Met) has been extensively tested for an association with schizophrenia, but with conflicting results. Recent studies indicate that if COMT is implicated in susceptibility to schizophrenia, this cannot be wholly accounted for by the Val158Met polymorphism. To assess this view, the authors conducted a case-control association study (399 patients with schizophrenia and 440 control subjects) for five functional polymorphisms (rs2075507, rs737865, rs6267, rs4680 and rs165599) in Japanese subjects. There were no significant associations found between the polymorphisms or haplotypes of COMT and schizophrenia. The present study shows that these five functional COMT polymorphisms do not play a major role in conferring susceptibility to schizophrenia in Japanese.
儿茶酚-O-甲基转移酶（COMT）是降解包括多巴胺在内的儿茶酚胺神经递质的酶之一。COMT基因位于22q11.2，这是精神分裂症的一个常见易感位点。因此，COMT是精神分裂症一个强有力的功能和定位候选基因。一种常见的功能多态性（rs4680，Val158Met）已针对其与精神分裂症的关联进行了广泛测试，但结果相互矛盾。最近的研究表明，如果COMT与精神分裂症易感性有关，这不能完全由Val158Met多态性来解释。为评估这一观点，作者对日本受试者中的五个功能多态性（rs2075507、rs737865、rs6267、rs4680和rs165599）进行了病例对照关联研究（399例精神分裂症患者和440名对照受试者）。未发现COMT的多态性或单倍型与精神分裂症之间存在显著关联。本研究表明，这五个功能性COMT多态性在赋予日本人群精神分裂症易感性方面不发挥主要作用。
