Sand Philipp, Störtebecker Petra, Langguth Berthold, Hajak Göran, Eichhammer Peter
Klinik und Poliklinik für Psychiatrie und Psychotherapie der Universität am Bezirksklinikum Regensburg.
Psychiatr Prax. 2004 Nov;31 Suppl 1:S58-60. doi: 10.1055/s-2004-828438.
Catechol-o-methyltransferase (COMT) plays a major role in dopamine metabolism and has been the object of extensive investigations in subjects affected by schizophrenia. Interest in the enzyme has grown in recent years following positive linkage findings for schizophrenia in the chromosomal region surrounding the COMT gene locus on 22q. In several studies, a gender-specific association of COMT polymorphisms with schizophrenia has been reported and has given rise to speculations on transmission ratio distortions. The present investigation addressed allelic distributions in 307 men and women with respect to the rs165599 A > G polymorphism. No evidence was obtained for gender bias in allelic patterns, nor did we observe association with schizophrenia (p = 0.4). While studies involving same-sex siblings are lacking, gender-specific sharing of alleles does not appear to be a consistent feature of the COMT variant investigated.
儿茶酚-O-甲基转移酶（COMT）在多巴胺代谢中起主要作用，一直是精神分裂症患者广泛研究的对象。近年来，随着在22号染色体上COMT基因座周围的染色体区域发现精神分裂症的阳性连锁结果，人们对该酶的兴趣与日俱增。在多项研究中，已报道COMT基因多态性与精神分裂症存在性别特异性关联，并引发了关于传递率畸变的推测。本研究针对307名男性和女性中rs165599 A>G多态性的等位基因分布进行了研究。未获得等位基因模式存在性别偏差的证据，也未观察到与精神分裂症的关联（p=0.4）。虽然缺乏涉及同性兄弟姐妹的研究，但等位基因的性别特异性共享似乎并不是所研究的COMT变体的一致特征。
