1 Mol. Psychiatry 2007 Mar 12: 273-82
PMID 1717997
Title 白介素3和精神分裂症:性别和家族史的影响。
抽象的 Chromosome 5q21-33 has been implicated in harboring risk genes for精神分裂症。在本文中,我们报告了证据表明,白介素3和周围的多个单核苷酸多态性3(IL3) are associated with the disease in the Irish Study of High-Density精神分裂症Families (ISHDSF), the Irish Case-Control Study of精神分裂症(ICCSS)和爱尔兰三重奏研究精神分裂症(itrio)。协会是针对性的,依赖于家族史(FH)精神分裂症。在所有三个样本中,RS31400显示女性特异性和FH依赖性关联(分别为ISHDSF,ICCSS和ITRIO的P = 0.0062、0.0647和0.0284)。在三个样本中,有几个标记具有相似的关联。在单倍型分析中,在几种多标记组合中,在ISHDSF和ITRIO样品中鉴定出相同的风险和保护性单倍型。对于ICCS,涉及相同的单倍型;但是,在家庭样本中观察到的风险单倍型变得具有保护性。几种明显的标记,RS440970,RS31400和RS2069803,位于已知的雌激素反应元素,启动子和增强子中,IL3基因。他们可能解释了性别特定的关联,并且可以表达IL3基因。
SCZ Keywords 精神分裂症
2 Neurosci. Lett. 2008 Jul 440: 35-7
PMID 18547720
Title 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 精神分裂症已经观察到与细胞因子和细胞因子受体的各种异常有关。最近的三份报告表明了证据IL3基因,菌落刺激因子2受体α(CSF2RA),β(CSF2RB)和IL-3受体α(IL3RA), the IL-specific receptor subunits for CSF2 andIL3分别与精神分裂症。检查IL3RA polymorphism (rs6603272) with精神分裂症在中国人口中,有310名身体健康的患者精神分裂症were 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 theIL3RA对易感性的多态性精神分裂症,暗示IL3路径可能参与精神分裂症
SCZ Keywords 精神分裂症
3 Mol. Psychiatry 2008 Oct 13: 930-8
PMID 17667962
Title CSF2RB与爱尔兰家族和案例对照样本中的精神分裂症的协会研究。
抽象的 菌落刺激因子2受体,β(CSF2RB)是白介素3的受体共享亚基(IL3), colony stimulating factor 2 (CSF2) and IL5, and is responsible for the initiation of signal transduction triggered by ligand binding. In our previous study, we showed the evidence that theIL3基因与精神分裂症and the associations observed are sex-specific and dependent on family history (FH). In this article, we studied 10 single-nucleotide polymorphisms in the CSF2RB gene in the Irish Study of High-Density精神分裂症家庭(ISHDSF)和爱尔兰案件 - 控制研究精神分裂症(ICCSS),并测试了等位基因和单倍型关联精神分裂症。使用血统不平衡测试,我们发现两个标记(RS11705394和RS7285064)具有名义意义。在性分层的分析中,对于两个标记,关联信号主要源自男性受试者。在ICCSS样本中,我们发现几种标记(RS2072707,RS2284031和RS909486)显示出与性别特定和FH依赖性的关联精神分裂症。在多模型单倍型分析中,ISHDSF和ICCSS样品均显示出在多个链接不平衡(LD)阻滞最小LD的全球重要关联。由于CSF2RB对于IL3信号,两者的发现IL3and CSF2RB showed sex-specific and FH-dependent associations suggest that theIL3途径参与精神分裂症
SCZ Keywords 精神分裂症
4 Schizophr. Res. 2008 Dec 106: 208-17
PMID 18804346
Title 白介素3与精神分裂症中的肌肉杆菌结合蛋白1之间的相互作用。
抽象的 精神分裂症is a common psychotic mental disorder that is believed to result from the effects of multiple genetic and environmental factors. In this study, we explored gene-gene interactions and main effects in both case-control (657 cases and 411 controls) and family-based (273 families, 1,350 subjects) datasets of English or Irish ancestry. Fifty three markers in 8 genes were genotyped in the family sample and 44 markers in 7 genes were genotyped in the case-control sample. The Multifactor Dimensionality Reduction Pedigree Disequilibrium Test (MDR-PDT) was used to examine epistasis in the family dataset and a 3-locus model was identified (permuted p=0.003). The 3-locus model involved theIL3(rs2069803), RGS4 (rs2661319), and DTNBP1 (rs2619539) genes. We used MDR to analyze the case-control dataset containing the same markers typed in the RGS4,IL3和DTNBP1基因,发现证据表明IL3(RS31400)和DTNBP1(RS760761)(交叉验证一致性4/5,平衡预测精度= 56.84%,p = 0.019)。虽然这不是直接复制,但从家族和案例对照样本中获得的结果集体表明IL3和DTNBP1可能会相互作用,并共同有助于增加风险精神分裂症。我们还观察到在DTNBP1中具有显着的主要作用,该作用在多个比较中存活了校正,并且在几种基因中具有许多名义上的显着作用。
SCZ Keywords 精神分裂症
5 Schizophr Bull 2009 Nov 35: 1163-82
PMID 18552348
Title 精神分裂症易感基因直接与病原体生命周期有关:巨细胞病毒,流感,单纯疱疹,风疹和弓形虫弓形虫。
抽象的 许多基因涉及精神分裂症可以与谷氨酸能传播和神经塑性,少突胶质细胞功能以及其他与神经生物学和神经生物学和其他家庭有关精神分裂症表型。其他人出现,而参与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 in精神分裂症1(DISC1) controls the microtubule network that is used by viruses as a route to the nucleus, while DTNBP1, MUTED, and BLOC1S3 regulate endosomal to lysosomal routing that is also important in viral traffic. Neuregulin 1 activates ERBB receptors releasing a factor, EBP1, known to inhibit the influenza virus transcriptase. Other viral or bacterial components bind to genes or proteins encoded by CALR, FEZ1, FYN, HSPA1B, IL2, HTR2A, KPNA3, MED12, MED15, MICB, NQO2, PAX6, PIK3C3, RANBP5, or TP53, while the cerebral infectivity of the herpes simplex virus is modified by Apolipoprotein E (APOE). Genes encoding for proteins related to the innate immune response, including cytokine related (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 with精神分裂症,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精神分裂症。对于此类基因,遗传研究中的关联强度可能是由病原体的存在来调节的,病原体在不同时间在不同人群中有所不同,这可能解释了困扰着这种研究的异质性。这种情况还表明,旨在消除与如此清晰相互作用的病原体的药物或疫苗精神分裂症易感基因可能会对疾病的发生产生巨大影响。
SCZ Keywords 精神分裂症
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