| 1 | 精神病学临床。Neurosci。2004年8月58日：438-40 |
|---|---|
| PMID | 15298659 |
| Title | Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population. |
| 抽象的 | 精神分裂症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 ofXBP1, 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精神分裂症。在234中研究了多态性精神分裂症患者与对照组相比。观察到基因型分布的显着差异，这表明-116C/C基因型是两种主要精神疾病的保护因素。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 2 | 精神病学临床。Neurosci。2004年8月58日：438-40 |
| PMID | 15298659 |
| Title | Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population. |
| 抽象的 | 精神分裂症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 ofXBP1, 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精神分裂症。在234中研究了多态性精神分裂症患者与对照组相比。观察到基因型分布的显着差异，这表明-116C/C基因型是两种主要精神疾病的保护因素。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 3 | Biochem. Biophys. Res. Commun. 2004 Jul 319: 866-70 |
| PMID | 15184063 |
| Title | A case-control study provides evidence of association for a functional polymorphism -197C/G in XBP1 to schizophrenia and suggests a sex-dependent effect. |
| 抽象的 | 精神分裂症躁郁症和双相情感障碍是两种主要的精神疾病，可以在一定程度上共享特定的遗传危险因素。越来越多的证据表明，这两种疾病可能比以前考虑的更紧密相关。为了检验这一假设，我们研究了功能性多态性-197C/g。XBP1据报道，这增加了双相情感障碍的风险，在一项病例对照研究（374例病例与371个对照）中，以评估其在遗传作用中在精神分裂症。在本研究中，发现这种多态性与精神分裂症在等位基因（p = 0.034; OR = 1.26，95％CI 1.02-1.55）和基因型水平（GG vs. vs. CG+CC，47.59％vs. 38.81％; p = 0.016; p = 0.016，df = 1; or = 1.43，95，95，95，95，95％CI 1.07-1.92）。我们当前的数据表明-197C/g在XBP1也是一个遗传危险因素精神分裂症。此外，它对该疾病产生了性依赖性遗传作用。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 4 | 精神病学临床。Neurosci。2006年10月60日：633-5 |
| PMID | 16958950 |
| Title | 日本精神分裂症患者中X-box结合蛋白1基因的功能启动子多态性的关联研究。 |
| 抽象的 | X -box结合蛋白1的功能启动子多态性-116C/g（XBP1）发现基因与精神分裂症in Han Chinese and Japanese subjects, although contradictive negative findings were also reported in European populations. To confirm this association in a Japanese population, the authors conducted a case-control association study. There was no significant difference in both genotype and allele frequencies between the patients and control subjects, suggesting that theXBP1-116C/G多态性可能无法提高对精神分裂症在日本人口中。但是，在几个人群中应进行使用较大样本和详细临床数据的进一步研究。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 5 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006 Jan 141B: 71-5 |
| PMID | 16342282 |
| Title | Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia. |
| 抽象的 | X-box结合蛋白1基因的功能启动子多态性（-116C/g）（-116C/g）（XBP1) gene was reported to be associated with精神分裂症in Asian subjects. In a replication attempt, three European case-control samples comprising 2,182 German, Polish, and Swedish subjects, were genotyped for theXBP1-116C/G多态性。比较等位基因和基因型频率精神分裂症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精神分裂症。我们得出的结论是功能XBP1gene polymorphism is not of major importance to精神分裂症在欧洲人口中。但是，不能排除XBP1多态性参与精神分裂症在其他人群中或增加了对该疾病的较小敏感性。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 6 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006 Jan 141B: 71-5 |
| PMID | 16342282 |
| Title | Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia. |
| 抽象的 | X-box结合蛋白1基因的功能启动子多态性（-116C/g）（-116C/g）（XBP1) gene was reported to be associated with精神分裂症in Asian subjects. In a replication attempt, three European case-control samples comprising 2,182 German, Polish, and Swedish subjects, were genotyped for theXBP1-116C/G多态性。比较等位基因和基因型频率精神分裂症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精神分裂症。我们得出的结论是功能XBP1gene polymorphism is not of major importance to精神分裂症在欧洲人口中。但是，不能排除XBP1多态性参与精神分裂症在其他人群中或增加了对该疾病的较小敏感性。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 7 | Schizophr Bull 2007 11月33日：1343-53 |
| PMID | 17329232 |
| Title | eIF2B and oligodendrocyte survival: where nature and nurture meet in bipolar disorder and schizophrenia? |
| 抽象的 | 躁郁症和精神分裂症share common chromosomal susceptibility loci and many risk-promoting genes. Oligodendrocyte cell loss and hypomyelination are common to both diseases. A number of environmental risk factors including famine, viral infection, and prenatal or childhood stress may also predispose to精神分裂症或躁郁症。在细胞中，相关的应激源（饥饿，病毒，细胞因子，氧化和内质网应激）激活一系列EIF2-Alpha激酶，通过磷酸化的EIF2-Alpha，Translation Initization Intiation Intiation initiation initiation initiation initiation initiation initiation启动因子EIF2B，通过最终抑制，通过最终抑制蛋白质合成。生长因子通过EIF2B激活和平衡该系统增加蛋白质的合成。EIF2-Alpha激酶对蛋白质合成的控制也由长期增强参与，并由长期抑郁症抑制，由N-甲基-D-天冬氨酸（NMDA）和代谢型谷氨酸受体介导。据报道，许多基因都与两者相关精神分裂症以及与该网络内部或与之相关的蛋白质的躁郁症代码。其中包括NMDA（GRIN1，GRIN2A，GRIN2B）和代谢性（GRM3，GRM4）谷氨酸受体，生长因子（BDNF，NRG1）及其许多下游信号传导组件或同谋（AKT1，DAO，DAOA，DAOA，DAOA，DAOA，DAOA，dAOA，DAOA，DTNBP1，dtnbp1，dpysys或dtnbp1，dpysys of Choreices or groments of Fimate of Froment of dnf，grm4）。IMPA2，NCAM1，NOS1，NOS1AP，PIK3C3，PIP5K2A，PDLIM5，RGS4，YWHAH）。它们还包括与控制应力响应性EIF2-α激酶有关的多种基因产品（IL1B，IL1RN，MTHFR，TNF，ND4，ND4，NDUFV2，XBP1). Oligodendrocytes are particularly sensitive to defects in the eIF2B complex, mutations in which are responsible for vanishing white matter disease. The convergence of natural and genetic risk factors on this area in bipolar disorder and精神分裂症may help to explain the apparent vulnerability of this cell type in these conditions. This convergence may also help to reconcile certain arguments related to the importance of nature and nurture in the etiology of these psychiatric disorders. Both may affect common stress-related signaling pathways that dictate oligodendrocyte viability and synaptic plasticity. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 8 | J Neural Transm (Vienna) 2008 -1 115: 513-9 |
| PMID | 18335162 |
| Title | Comprehensive analysis of polymorphisms throughout GAD1 gene: a family-based association study in schizophrenia. |
| 抽象的 | Studies suggest that GAD1 gene is a functional candidate susceptibility gene for精神分裂症。为了研究GAD1基因对病因的贡献精神分裂症在中文中，我们在GAD1基因和精神分裂症在235个中国汉族三重奏中。使用系统的突变扫描以及常见SNP和精神分裂症在单位型和单倍型水平中。总的来说，我们发现了17种变体，其中包括5'FANKing区域中的10个SNP，4个SNP和内含子区域中的一件小说，在3'-非翻译区域（UTR）中有2个SNP（一个小说SNP）。使用17个变体中9个常见SNP的传输不平衡测试，在GAD1的5'Fancering区域中，SNP RS3791878-G等位基因的重要证据优先传输到三个的所有后代（p = 0.0063）；比率= 1.83; 95％置信区间：1.26-2.65）和男性后代三重奏（分别为p = 0.0045；优势比= 2.21; 95％置信区间：1.37-3.56）。单倍型分析表明，RS3762556（C）-RS3791878（g）-RS6755102（C）是在所有三重奏和男性春季三重奏中都优先传播的主要风险单倍型（分别p = 0.016和0.012）。SNP RS3791878风险的性别依赖性表明GAD1基因在精神分裂症。鉴于SNP RS3791878中从G到T的转换可能会导致ARNT和XBP1transcriptional factor binding sites using a bioinformatics approach, our positive findings of this SNP support the hypothesis that the abruption of GAD1 gene is important to the risk of精神分裂症。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |