| 1 | Mol. Psychiatry 2007 Jun 12: 572-80 |
|---|---|
| PMID | 17522711 |
| 标题 | Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. |
| 抽象的 | schizophrenia是一种强烈的遗传障碍，近年来对潜在候选基因的鉴定已经加速。全基因组扫描已经确定了整个基因组的多个大型连锁区域，并进行了精细图研究和对生物学上合理靶标的其他研究，这些靶标证明了几个有前途的候选基因适中效应。尽管迄今为止尚无WGA研究，但最近引入了全基因组协会（WGA）研究的技术平台可以提供快速识别新目标的机会。我们报告了一项病例对照WGA研究的结果schizophrenia，检查了大约500 000个标记，发现一个新型基因座（RS4129148）的强烈影响（P = 3.7 x 10（-7））CSF2RA(colony stimulating factor, receptor 2 alpha) gene in the pseudoautosomal region. Sequencing ofCSF2RAand its neighbor, IL3RA (interleukin 3 receptor alpha) in an independent case-control cohort revealed both common intronic haplotypes and several novel, rare missense variants associated withschizophrenia. The presence of cytokine receptor abnormalities inschizophrenia可能有助于解释先前的流行病学数据，该数据将这种疾病的风险与自身免疫性疾病，产前感染和家族性白血病的发生率改变。 |
| SCZ关键字 | schizophrenia |
| 2 | Neurosci. Lett. 2008 Jul 440: 35-7 |
| PMID | 18547720 |
| 标题 | 中国人群中白介素-3受体α多态性和精神分裂症之间的关联。 |
| 抽象的 | schizophreniahas been observed to be associated with various abnormalities in cytokines and cytokine receptors. Three very recent reports showed the evidence that the IL3 gene, colony stimulating factor 2 receptor alpha (CSF2RA），β（CSF2RB）和IL-3受体α（IL3RA），CSF2和IL3的IL特异性受体亚基与schizophrenia. To examine the association of the IL3RA polymorphism (rs6603272) withschizophreniain a Chinese population, 310 physically healthy patients withschizophreniawere compared with 330 age-, sex- matched normal controls. Statistically significant differences were observed in both allelic and genotypic frequencies of the rs6603272 polymorphism (Allele, chi2=6.24, d.f.=1, p=0.013, odds ratio (OR)=1.35, 95% CI 1.07-1.71; Genotype, chi2=6.85, d.f.=2, p=0.033). Our results indicate a small but significant contribution of the IL3RA polymorphism to susceptibility toschizophrenia, suggesting that the IL3 pathway may be involved inschizophrenia. |
| SCZ关键字 | schizophrenia |
| 3 | Schizophr Bull 2009 11月35日：1163-82 |
| PMID | 18552348 |
| 标题 | Schizophrenia susceptibility genes directly implicated in the life cycles of pathogens: cytomegalovirus, influenza, herpes simplex, rubella, and Toxoplasma gondii. |
| 抽象的 | Many genes implicated inschizophreniacan be related to glutamatergic transmission and neuroplasticity, oligodendrocyte function, and other families clearly related to neurobiology andschizophreniaphenotypes. Others appear rather to be involved in the life cycles of the pathogens implicated in the disease. For example, aspartylglucosaminidase (AGA), PLA2, SIAT8B, GALNT7, or B3GAT1 metabolize chemical ligands to which the influenza virus, herpes simplex, cytomegalovirus (CMV), rubella, or Toxoplasma gondii bind. The epidermal growth factor receptor (EGR/EGFR) is used by the CMV to gain entry to cells, and a CMV gene codes for an interleukin (IL-10) mimic that binds the host cognate receptor, IL10R. The fibroblast growth factor receptor (FGFR1) is used by herpes simplex. KPNA3 and RANBP5 control the nuclear import of the influenza virus. Disrupted inschizophrenia1（DISC1）控制病毒用作通往核的途径的微管网络，而DTNBP1，MUTED和BLOC1S3调节内体与溶酶体路由，这对病毒交通也很重要。Neuregulin 1激活ERBB受体释放一个因子EBP1，已知可抑制流感病毒转录酶。其他病毒或细菌成分与CALR，FEZ1，FYN，HSPA1B，IL2，IL2，HTR2A，KPNA3，MED12，MED15，MICB，NQO2，NQO2，PAX6，PAX6，PAX6，PIK3C3，PIK3C3，RANBP5，RANBP5，RANBP5，RANBP5，RANBP5，或TP53，同时，与Cere Infcerbral Infcestive toscessivessive toscessive，单纯蛋白E（APOE）修饰了单纯形病毒。与先天免疫反应有关的蛋白质编码的基因，包括细胞因子相关（CCR5，CSF2RA, CSF2RB, IL1B, IL1RN, IL2, IL3, IL3RA, IL4, IL10, IL10RA, IL18RAP, lymphotoxin-alpha, tumor necrosis factor alpha [TNF]), human leukocyte antigen (HLA) antigens (HLA-A10, HLA-B, HLA-DRB1), and genes involved in antigen processing (angiotensin-converting enzyme and tripeptidyl peptidase 2) are all concerned with defense against invading pathogens. Human microRNAs (Hsa-mir-198 and Hsa-mir-206) are predicted to bind to influenza, rubella, or poliovirus genes. Certain genes associated withschizophrenia，包括与神经生理学有关的人，与与疾病有关的病原体的生命周期密切相关。几种基因可能会影响病原体的毒力，而病原体又可能影响基因和与神经生理学有关的基因和过程schizophrenia. For such genes, the strength of association in genetic studies is likely to be conditioned by the presence of the pathogen, which varies in different populations at different times, a factor that may explain the heterogeneity that plagues such studies. This scenario also suggests that drugs or vaccines designed to eliminate the pathogens that so clearly interact withschizophreniasusceptibility genes could have a dramatic effect on the incidence of the disease. |
| SCZ关键字 | schizophrenia |
| 4 | Brain Res. 2009 May 1268: 13-6 |
| PMID | 19281803 |
| 标题 | A family-based study of the IL3RA gene on susceptibility to schizophrenia in a Chinese Han population. |
| 抽象的 | schizophreniahas been observed to be associated with various abnormalities in cytokines and cytokine receptors that have been one of the recent focal points of immunological research inschizophrenia. Recent reports have showed that IL-3 gene, colony stimulating factor 2 receptor alpha (CSF2RA) and IL-3 receptor alpha (IL3RA) are associated withschizophrenia. The aim of this study was to investigate IL3RA gene variants inschizophrenia在中国人群中，使用基于家庭的协会方法。我们的样本包括101个中国父母的汉族血统。所有受试者均使用PCR技术的IL3RA -RS6603272和-RS6645249的基因型。单标记分析显示Rs6603272（x（2）= 5.15，df = 1，p = 0.023）的显着关联，但对RS6645249的关联不显着。但是，两种多态性与schizophrenia(for rs6603272, X(2)=6.15, df=2, P=0.046; for rs6645249, X(2)=21.79, df=2, P=1.85e-005). Haplotype TDT was statistically significant (X(2)=5.14, df=1, P=0.023), with the rs6603272(T)-rs6645249(G) haplotype significantly associated withschizophrenia（OR = 1.66; 95％CI = 1.08-2.55）。总之，我们基于家庭的协会研究还揭示了IL3RA变体对易感性的较小但重大贡献schizophreniain a Chinese population. |
| SCZ关键字 | schizophrenia |
| 5 | 嗡嗡声。摩尔,麝猫。2010年7月19日:2841 - 57 |
| PMID | 20457675 |
| 标题 | SMARCA2和其他全基因组的支持精神分裂症相关的基因：由REST/NRSF，网络组织和灵长类动物特异性进化进行调节。 |
| 抽象的 | SMARCA2基因编码SWI/SNF染色质复合物中的BRM，最近被确定为与schizophrenia(SZ) in a genome-wide approach. Polymorphisms in SMARCA2, associated with the disease, produce changes in the expression of the gene and/or in the encoded amino acid sequence. We show here that an SWI/SNF-centered network including the Smarca2 gene is modified by the down-regulation of REST/NRSF in a mouse neuronal cell line. REST/NRSF down-regulation also modifies the levels of Smarce1, Smarcd3 and SWI/SNF interactors (Hdac1, RcoR1 and Mecp2). Smarca2 down-regulation generates an abnormal dendritic spine morphology that is an intermediate phenotype of SZ. We further found that 8 (CSF2RA，Hist1H2BJ，Notch4，NRGN，Shox，Smarca2，TCF4和ZnF804A中的10个基因组全基因组支持的SZ相关基因是相互作用网络的一部分（包括SMARCA2），其中5个编码转录调节器的5个成员。3（TCF4，Smarca2和CSF2RA当其余/NRSF-SWI/SNF染色质复合物复合复合物在小鼠细胞系和转基因小鼠模型中实验操纵时，将修改10个基因组全基因组的SZ相关基因中的10个。其余的/NRSF-SWI/SNF放松管制还导致基因的差异表达，这些基因聚集在染色体中，表明诱导全基因组的表观遗传学变化。最后，我们发现SMARCA2相互作用者和全基因组支持的SZ相关基因在灵长类动物和人类谱系中显示阳性选择的基因中非常丰富，这表明灵长类动物中新型蛋白质相互作用的发生。总的来说，这些数据将SWI/SNF染色质复制复合物确定为SZ遗传结构的关键组成部分。 |
| SCZ关键字 | schizophrenia |