Department of Psychiatry, Graduate School of Medicine, Nagoya University, Aichi, Japan.
J Hum Genet. 2010 Mar;55(3):133-6. doi: 10.1038/jhg.2009.139. Epub 2010 Jan 29.
Recently, ubiquitin-specific peptidase 46 (Usp46) has been identified as a quantitative trait gene responsible for immobility in the tail suspension test and forced swimming test in mice. Mice with 3-bp deletion in Usp46 exhibited loss of 'behavioral despair' under inescapable stresses in addition to abnormalities in circadian behavioral rhythms and the GABAergic system. Considering the face and construct validity as an animal model for bipolar disorder, we explored an association of USP46 and bipolar disorder in a Japanese population. We also examined an association of USP46 and schizophrenia. We found nominal evidence for an association of rs12646800 and schizophrenia. This association was not significant after correction for multiple testing. No significant association was detected for bipolar disorder. In conclusion, our data argue against the presence of any strong genetic susceptibility factors for bipolar disorder or schizophrenia in the region USP46.
最近，泛素特异性肽酶 46（Usp46）被鉴定为一种数量性状基因，负责小鼠尾部悬挂试验和强迫游泳试验中的不动性。在不可避免的应激下，Usp46 缺失 3 个碱基的小鼠除了昼夜节律行为和 GABA 能系统异常外，还表现出“行为绝望”的丧失。鉴于其作为双相障碍动物模型的表面和结构效度，我们在日本人群中探索了 USP46 与双相障碍的关联。我们还检查了 USP46 与精神分裂症的关联。我们发现 rs12646800 与精神分裂症存在名义上的关联。经多次检验校正后，这种关联并不显著。未检测到与双相障碍有显著关联。总之，我们的数据表明，USP46 区域不存在双相障碍或精神分裂症的任何强遗传易感因素。
