TY - T1的转录组复发缓和多发性硬化患者的资料显示异常免疫表型与健康对照组相比(P5.299) JF -神经学乔-神经学六世- 86 - 16补充SP P5.299 AU -詹姆斯·波特盟Gafson阿里AU -理查德·尼古拉斯盟Paul Matthews Y1 - 2016/04/05 UR - //www.ez-admanager.com/首页content/86/16_Supplement/P5.299.abstract N2 -目的:使用下一代RNA基因测序识别差异与复发缓和多发性硬化(RR-MS)。背景:多发性硬化是一种常见的神经炎症疾病,基因变异的风险已经被证明能够影响疾病的遗传。这些包括MHC相关等位基因2、IL-7受体α和CTLA-4。通过微观察性研究表明,医学患者不同的转录组配置文件控制炎症和免疫过程。我们测试这个假说的事业一个公正的微分表达式分析外周血单核细胞(从RR-MS PBMCs)患者和健康对照组。方法:血液样本取自10 RR-MS患者和8年龄和性别匹配控制。Total RNA was isolated from freshly harvested peripheral blood mononuclear cells (RIN>8 for all samples). RNA was sequenced using the Illumina HiSeq platform, aligned using TopHat and counts calculated using HTSeq. Differential expression analysis was performed using DESEq2 (padj cut-offs <0.01). Results: We discovered 198 differentially expressed genes in RR-MS patients compared to controls (padj < 0.01). Of these, 89 were significantly increased and 109 were significantly decreased. The potentially relevant genes that were elevated had a role in cytokine production (NLRP3 and IL5RA respectively), antigen processing (CTSS), leukocyte migration (CD244) and regulation of type I interferon production (UBC). Most interestingly, significantly decreased genes included those implicated in myelination (PLLP) and NF-kappaB signalling (TSPAN6). Conclusions: This study demonstrates that the transcriptome profiles of RR-MS patients differ from controls and that many implicated genes have inflammatory and immunological functions as well as roles in myelination. The use of next-generation sequencing can provide insight into the dynamic pathways involved in MS pathogenesis and may help to further understand the genetic components of disease susceptibility.Disclosure: Dr. Porter has nothing to disclose. Dr. Arie has nothing to disclose. Dr. St. John Nicholas has received personal compensation for activities with Bayer Pharmaceuticals Corporation as a speaker, and Biogen Idec as a principal investigator, researcher, speaker and for serving on the advisory board. Dr. Matthews has received personal compensation for activities with Biogen, Novartis, Ixico, transparency Life Sciences, and Adelphi Communications. Dr. Matthews has received research support from GlaxoSmithKline and Biogen.Wednesday, April 20 2016, 8:30 am-7:00 pm ER -