Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia

Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia
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DOI:
10.1002/ajmg.b.30262
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发表时间:
2006-01-05
影响因子:
2.8
通讯作者:
Nöthen, MM
Nöthen, MM
中科院分区:
医学3区
文献类型:
--
作者:
Jönsson, EG;Cichon, S;Nöthen, MM

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X-box结合蛋白I基因(XBP 1)的功能启动子多态性(-116 C/G)与亚洲人精神分裂症相关。在一次重复试验中,对三个欧洲病例对照样本(包括2,182名德国、波兰和瑞典受试者)进行了XBP 1 - 116 C/G多态性基因分型。比较精神分裂症患者和对照组的等位基因和基因型频率。三个样本中的任何一个都没有显著的病例对照差异,尽管在一项包含3,612名受试者的荟萃分析中,含有-116 G的基因型与精神分裂症之间存在临界关联。我们的结论是,功能性的XBP 1基因多态性是不是主要的重要性,精神分裂症在欧洲人口调查。然而,不能排除XBP 1多态性与其他人群中的精神分裂症有关,或者增加了对该疾病的轻微易感性。(C)2005 Wiley-Liss,Inc.
A functional promoter polymorphism (-116C/G) of the X-box binding protein I gene (XBP1) gene was reported to be associated with schizophrenia in Asian subjects. In a replication attempt, three European case-control samples comprising 2,182 German, Polish, and Swedish subjects, were genotyped for the XBP1 -116C/G polymorphism. Allele and genotype frequencies were compared between schizophrenic patients and control subjects. There were no significant case-control differences in any of the three samples, although in a meta-analysis with previous results comprising 3,612 subjects there was a borderline association between the -116G-containing genotypes and schizophrenia. We conclude that the functional XBP1 gene polymorphism is not of major importance to schizophrenia in the European populations investigated. It cannot be excluded, however, that the XBP1 polymorphism is involved in schizophrenia in other populations or adds minor susceptibility to the disorder. (C) 2005 Wiley-Liss, Inc.