Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population

Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population
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DOI:
10.1038/jhg.2009.139
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发表时间:
2010-03-01
影响因子:
3.5
通讯作者:
Ozaki, Norio
Ozaki, Norio
中科院分区:
生物学3区
文献类型:
--
作者:
Kushima, Itaru;Aleksic, Branko;Ozaki, Norio

文献摘要

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最近,泛素特异性肽酶46(Usp 46)已被确定为一个数量性状基因负责小鼠悬尾试验和强迫游泳试验中的不动性。Usp 46缺失3-bp的小鼠在不可避免的压力下表现出“行为绝望”的丧失,以及昼夜行为节律和GABA能系统的异常。考虑到面孔和结构效度作为双相情感障碍的动物模型,我们探讨了USP 46和双相情感障碍在日本人群中的关联。我们还研究了USP 46和精神分裂症的关联。我们发现了rs 12646800与精神分裂症相关的名义证据。在多重检验校正后,这种关联并不显著。双相情感障碍没有显著的关联。总之,我们的数据反对在该地区USP 46中存在双相情感障碍或精神分裂症的任何强遗传易感性因素。Journal of Human Genetics(2010)55,133-136; doi:10.1038/jhg.2009.139; 2010年1月29日在线发表
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. Journal of Human Genetics (2010) 55, 133-136; doi: 10.1038/jhg.2009.139; published online 29 January 2010