Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population
Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population
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DOI：
10.1111/j.1440-1819.2004.01280.x
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发表时间：
2004-08-01
影响因子：
11.9
通讯作者：
Kato, T
中科院分区：
文献类型：
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作者：
Kakiuchi, C;Ishiwata, M;Kato, T
精神分裂症和双相情感障碍有一些共同的临床特征，连锁研究表明有几个基因座是常见的。最近，作者发现内质网(ER)应激反应的关键基因XBP1启动子区域的-116C-->；G替换导致内质网应激反应的损害，并且-116C/C基因是一个保护因子；换句话说，G等位基因的存在增加了双相情感障碍的风险。该基因位于22q12.1，也与精神分裂症有关。对234例精神分裂症患者进行了基因多态性调查，并与对照组进行比较。基因型分布有显著差异，提示-116C/C是两种主要精神障碍的保护因子。
Schizophrenia and bipolar disorder share some clinical features and linkage studies have shown that several loci are common. Recently, the authors found that the -116C-->G substitution in the promotor region of XBP1, a pivotal gene in endoplasmic reticulum (ER) stress response, causes the impairment of ER stress response, and that the -116C/C genotype is a protective factor; in other words the presence of the G allele increases the risk for bipolar disorder. The gene is located on 22q12.1, which is also linked with schizophrenia. The polymorphisms were investigated in 234 schizophrenic patients as compared with controls. Significant difference of genotype distribution was observed, which suggested that the -116C/C genotype is a protective factor for both of the major mental disorders.