X-box binding protein 1 (XBP1) C-116G polymorphisms in bipolar disorders and age of onset
X-box binding protein 1 (XBP1) C-116G polymorphisms in bipolar disorders and age of onset
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DOI：
10.1016/j.neulet.2004.06.012
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发表时间：
2004-09-02
影响因子：
2.5
通讯作者：
Hong, CJ
中科院分区：
文献类型：
--
作者：
Hou, SJ;Yen, FC;Hong, CJ
X-box结合蛋白1（X-box binding protein 1，XBP 1）位于染色体22 q12，是内质网应激反应中的关键基因，与双相情感障碍相关。近年来，在病例对照研究和家族关联研究中均发现了XBP 1基因启动子区-116C -> G多态性与双相情感障碍的关联，但这一发现尚未得到其他独立样本人群研究的证实。为了重复这一发现并确定双相情感障碍的发病年龄与XBP 1 C -116 G多态性之间的关联，我们调查了中国人群（153名双相情感障碍患者和174名对照）中该多态性的患病率。然而，我们无法证明C -116 G多态性与双相情感障碍（基因型P = 0.674，等位基因频率P = 0.436）或发病年龄（P = 0.563）之间存在显著关联。此外，在双相情感障碍患者中，这种多态性与家族史之间没有关联。这些阴性结果表明，XBP 1 C -116 G多态性在中国人群双相情感障碍的发病机制中并没有发挥重要作用。(C)2004爱思唯尔爱尔兰有限公司保留所有权利。
X-box binding protein 1 (XBP1), a critical gene in the endoplasmic reticulum stress response, is located on chromosome 22q12, which has been linked with bipolar disorders in several studies. Recently, associations have been reported between a polymorphism (-116C --> G) in the promoter region of XBP1, and bipolar disorders in both case-control study and family-based association study, however, this finding is not yet confirmed by other research using independent sample populations. To replicate this finding and determine the association between onset age of bipolar disorders and the XBP1 C - 116G polymorphism, we investigated the prevalence of this polymorphism in a Chinese population (153 bipolar disorder patients and 174 controls). We were unable, however, to demonstrate a significant association between the C - 116G polymorphism and bipolar disorders (P = 0.674 for genotype and P = 0.436 for allele frequency) or age at onset (P = 0.563). Further, no association was demonstrated between this polymorphism and family history in bipolar disorder patients. These negative findings suggest that the XBP1 C - 116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations. (C) 2004 Elsevier Ireland Ltd. All rights reserved.