| 1 | Brain Res. Mol. Brain Res. 2002 Nov 107: 183-9 |
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| PMID | 12425946 |
| 标题 | 精神分裂症和Nogo：皮质中的mRNA升高，纯合CAA插入物的高患病率。 |
| 抽象的 | 精神分裂症is a major psychiatric disorder which is hypothesized to result from abnormal neurodevelopment or neural changes in adulthood and possibly associated with altered gene expression. To search for genes overexpressed in精神分裂症, cDNA library subtractive hybridization experiments between post-mortem human frontal cerebral cortices from精神分裂症进行了个体和神经控制。过表达的基因之一精神分裂症was identified as Nogo (also known as reticulon 4,RTN4，Ni 250或RTN-X），一种与髓磷脂相关的蛋白质，可抑制神经突和神经末端的生长。Nogo mRNA的表达升高精神分裂症通过定量逆转录 - 聚合酶链反应研究证实：16.5 pg Nogo cDNA/microg总RNA中的总RNA精神分裂症，和10.2 Pg Nogo cDNA/MICROG总RNA（n = 7; p = 0.01，n <30）。为了鉴定该基因中可能的多态性，在一系列中确定了Nogo核苷酸序列精神分裂症和控制样品。发现Nogo mRNA在3'-非翻译区域中包含CAA插入多态性。该CAA插入物纯合的个体的患病率明显更高精神分裂症compared to controls in genomic DNA samples extracted from post-mortem brain and blood samples: 17/81 or 21% in精神分裂症and 2/61 or 3% in controls (P=0.0022, chi(2)- and Fisher's exact-tests). Because the 3'-untranslated regions of eukaryotic genes are known to regulate gene expression, the increased frequency of the Nogo CAA insert in精神分裂症may contribute to abnormal regulation of Nogo gene expression, and may indicate a role for Nogo in disturbed neurodevelopment in精神分裂症。 |
| SCZ关键字 | 精神分裂症 |
| 2 | Neurosci。Lett。2004年7月365日：23-7 |
| PMID | 15234466 |
| 标题 | 中国人群中RTN4内的遗传多态性与精神分裂症之间没有关联。 |
| 抽象的 | TheRTN4据报道，染色体2P13-14的基因在精神分裂症by a cDNA subtractive hybridization experiment between postmortem human frontal cerebral cortices from Canadian精神分裂症个体和神经控制。同一项研究还报道了纯合CAA插入中的高流行率精神分裂症。在复制试图调查角色RTN4in the etiology of精神分裂症，我们在基因分型CAA插入多态性和其他三种遗传多态性（在3'-非翻译区域中的TATC缺失和两个在5'5'区域中的单核苷酸多态性）内部的基因分型。RTN4并在中国人群中进行了一项案件对照研究。在病例和对照组之间，这四个多态性和单倍型分布的等位基因和基因型频率没有显着差异。我们当前的数据表明内部的遗传多态性RTN4不太可能赋予对精神分裂症in the Chinese population. |
| SCZ关键字 | 精神分裂症 |
| 3 | Schizophr。研究》2006年6月84年:253 - 71 |
| PMID | 16632332 |
| 标题 | 缺氧调节基因和精神分裂症的神经发育起源。 |
| 抽象的 | 神经发育的变化可能是大脑功能障碍的基础精神分裂症。尽管在我们对遗传学的理解中取得了进步精神分裂症，关于非遗传因素如何与基因相互作用的知之甚少精神分裂症。The present analysis of genes potentially associated with精神分裂症is based on the observation that hypoxia prevails in the embryonic and fetal brain, and that interactions between neuronal genes, molecular regulators of hypoxia, such as hypoxia-inducible factor 1 (HIF-1), and intrinsic hypoxia occur in the developing brain and may create the conditions for complex changes in neurodevelopment. Consequently, we searched the literature for currently hypothesized candidate genes for susceptibility to精神分裂症that may be subject to ischemia-hypoxia regulation and/or associated with vascular expression. Genes were considered when at least two independent reports of a significant association with精神分裂症had appeared in the literature. The analysis showed that more than 50% of these genes, particularly AKT1, BDNF, CAPON, CCKAR, CHRNA7, CNR1, COMT, DNTBP1, GAD1, GRM3, IL10, MLC1, NOTCH4, NRG1, NR4A2/NURR1, PRODH, RELN, RGS4,RTN4/nogo和TNF受到缺氧的调节和/或在脉管系统中表达。未来对提出的基因作为候选者的易感性的研究精神分裂症should include their possible regulation by physiological or pathological hypoxia during development as well as their potential role in cerebral vascular function. |
| SCZ关键字 | 精神分裂症 |
| 4 | 临床烟。ACTA 2009年2月400日：21-4 |
| PMID | 18948092 |
| 标题 | The association between dilated cardiomyopathy and RTN4 3'UTR insertion/deletion polymorphisms. |
| 抽象的 | Nogo同工型A，B和C是蛋白质的网状家族的成员。Nogo-B在大多数组织中发现，尤其是在容器壁的内皮和平滑肌细胞中高度表达的，而Nogo-B是体内体外和血管重塑的细胞迁移的调节剂。TATC和CAA 3'UTR插入/缺失多态性RTN4, the gene encoding Nogo isoforms A, B and C, have been linked to精神分裂症和抑郁症，但数据不一致。但是，尚不清楚这些多态性是否与扩张的心肌病（DCM）有关。 A total of 159 DCM patients and 215 control subjects were recruited in this study. TheRTN4使用PCR-聚丙烯酰胺凝胶电泳测定TATC和CAA插入/缺失基因型。 （TATC）（2）等位基因和（TATC）（2）/（TATC）（2）基因型的频率与健康对照组中的频率显着不同（P = 0.045，OR = 1.356，95％CI = 1.006-1.827和P= 0.021，OR = 2.094，95％CI = 1.113-3.940）。在DCM和对照组之间，CAA插入/缺失基因型和等位基因频率没有显着差异。 这些数据提供了证据表明RTN4等位基因（TATC）（2）和（TATC）（2）/（TATC）（2）基因型与DCM相关。 |
| SCZ关键字 | 精神分裂症 |
| 5 | 是。J. Med。基因。B Neuropsychiatr。基因。2011年7月156b：581-92 |
| PMID | 21563301 |
| 标题 | 日本病例对照样本中NOGO相关基因与精神分裂症的关联研究。 |
| 抽象的 | Many studies have suggested that myelin dysfunction may be causally involved in the pathogenesis of精神分裂症。Nogo (RTN4），髓磷脂相关糖蛋白（MAG）和少突胶质细胞髓磷脂糖蛋白（OMG）都与常见受体Nogo-66受体结合1（RTN4R). We examined 68 single nucleotide polymorphisms (SNPs) (51 with genotyping and 17 with imputation analysis) from these four genes for genetic association with精神分裂症, using a 2,120 case-control sample from the Japanese population. Allelic tests showed nominally significant association of twoRTN4SNP（分别为RS11894868和RS2968804的SNPS（分别为RS11894868和0.037）和两个MAG SNP（分别为RS7249617和RS16970218的P = 0.034和0.029）精神分裂症。The MAG SNP rs7249617 also showed nominal significance in a genotypic test (P = 0.017). In haplotype analysis, the MAG haplotype block including rs7249617 and rs16970218 showed nominal significance (P = 0.008). These associations did not remain significant after correction for multiple testing, possibly due to their small genetic effect. In the imputation analysis ofRTN4，未开采的SNP RS2972090表现出名义上显着的关联（P = 0.032），几个估算的SNP显示出边缘关联。此外，在非错义变体（RS11677099：ASP357VAL）的计算机分析中，与RS11894868的强烈连接不平衡，预测对Nogo蛋白功能有害影响。尽管未能检测到这个日本队列中的强大关联，但我们的名义上的积极信号与先前报道的生物学和遗传发现一起，为“受干扰的髓磷脂系统理论的理论进一步支持精神分裂症“在不同的人群中。 |
| SCZ关键字 | 精神分裂症 |
| 6 | DNA细胞生物。2012年6月31日：1088-94 |
| PMID | 22320844 |
| 标题 | Genetic variation in RTN4 3'-UTR and susceptibility to cervical squamous cell carcinoma. |
| 抽象的 | 最近的研究表明RTN4is a multifunctional gene, including inhibition of axonal regeneration, vascular remodeling, apoptosis, and tumor suppression. The TATC and CAA insertion/deletion polymorphisms ofRTN43'-UTR已链接到精神分裂症, depression, and dilated cardiomyopathy. To test whether these two polymorphisms are associated with cervical squamous cell carcinoma (CSCC), in this research, by using polymerase chain reaction-polyacrylamide gel electrophoresis, we determined the genotypes of the TATC and CAA polymorphisms in 336 CSCC patients and 450 unrelated control subjects. Allele frequencies of TATC and CAA polymorphisms were not significantly different between CSCC patients and control subjects (odds ratio [OR]=1.22, 95% confidence interval [CI]=0.98-1.50 for TATC; OR=0.95, 95% CI=0.76-1.18 for CAA). Decreased CSCC risk was associated with TATC polymorphism in a recessive model (OR=0.49, 95% CI=0.30-0.77), while no significant association was observed between CAA polymorphism and CSCC in different genetic models. Results of stratified analysis revealed that both TATC and CAA polymorphisms were associated with high clinical stage, and CAA polymorphism was also associated with positive parametrial invasion (OR=0.69, 95% CI=0.48-0.98). The present study provides evidence that TATC and CAA insertion/deletion polymorphisms are associated with CSCC, indicating that genetic variation inRTN43'-UTR contributes to the susceptibility to CSCC. It is necessary to confirm these findings in ethnically different populations and with a larger sample. |
| SCZ关键字 | 精神分裂症 |