PT -期刊文章盟Nilufer谭盟-陈王盟-密涅瓦Carrasquillo盟Mariet艾伦AU -柯蒂斯Younkin盟丹尼尔联赛AU -弗农Pankratz说道盟Thuy阮AU -马李盟金伯利Malphrus AU -莎拉·林肯盟-罗纳德·彼得森盟-尼尔Graff-Radford AU -史蒂文Younkin AU -丹尼斯·迪克森盟- Yan Asmann TI -表达QTL研究负载和PSP的大脑由下一代核糖核酸测序(i5 - 1.009) DP - 2014 Apr 08年TA -神经病学PG - i5 - 1.009 //www.ez-admanager.com/content/82/10_Supplement/I5-1.009.short VI - 82 IP - 10补充4099 - 4100 - //www.ez-admanager.com/content/82/10_Supplement/I5-1.009.full所以Neurology2014 Apr 08年;首页82 AB -目的:识别小说影响疾病风险和大脑功能基因变异基因表达在晚发性阿尔茨海默氏症(负载)和进行性核上的麻痹(PSP)“下一代RNA-sequencing (RNA-seq)”。背景:我们以前由微阵列表达在负载和PSP GWAS研究变异位点与大脑附近基因的表达水平。下一代RNA-seq可以提供详细信息转录变化动态范围大于微阵列的方法。我们执行RNA-seq颞叶皮层组织100年~ 100年负荷和~ PSP的主题。我们的第一个目标是评估负载和PSP GWAS风险位点与RNA-seq基因外显子的水平。我们的第二个目标是评估影响转录监管RNA-seq探测到的所有变体。设计/方法:图书馆准备和RNA-seq paired-end 51个碱基对Illumina公司HiSeq2000上运行进行了梅奥诊所的先进的基因技术中心(AGTC)。数据分析包括读取比对,发现基因的制表,外显子和基础设施建成使用的水平和梅奥生物信息学分析管道建立核心(BIC)。基因表达水平检测与cis变体(+ / - 1 mb)和所有测试调整的相关生物和技术协变量。 RESULTS: For cis-eQTL analysis, 4,799,008 gene-SNP pairs were considered. False discovery rates (FDRs) were calculated according to Benjamini and Hochberg procedure to account for multiple hypothesis-testing correction. 1751 and 700 cis-eQTLs were detected at FDR<=5%, in LOAD and PSP brains, respectively with 421 common cis-eQTLs. At FDR <=10%, 2371 LOAD and 1305 PSP cis-eQTLs were detected with 541 common results. CONCLUSIONS: The cis-eQTLs identified in this RNA-seq data will be utilized to dissect the previously reported microarray expression associations and to identify novel cis-eQTL that also confer LOAD and PSP risk. Study Supported by: R01 AG032990, P50 AG016574, CurePSP Foundation, Mayo GHR Grant.Disclosure: Dr. Taner has nothing to disclose. Dr. Wang has nothing to disclose. Dr. Carrasquillo has nothing to disclose. Dr. Allen has nothing to disclose. Dr. Younkin has nothing to disclose. Dr. Serie has nothing to disclose. Dr. Pankratz has received research support from Abbott Laboratories, Inc. Dr. Nguyen has nothing to disclose. Dr. Ma has nothing to disclose. Dr. Malphrus has nothing to disclose. Dr. Lincoln has nothing to disclose. Dr. Petersen has received personal compensation for activities with Pfizer, Inc., and Janssen Alzheimer's Immunotherapy. Dr. Petersen has received royalty payments from Oxford University Press. Dr. Graff-Radford has received personal compensation for activities with Codman as a member of a scientific advisory board. Dr. Graff-Radford has received personal compensation in an editorial capacity for The Neurologist. Dr. Graff-Radford has received research support from Janssen, Pfizer Inc., Medivation, Forest Laboratories Inc., and Allon. Dr. Younkin has nothing to disclose. Dr. Dickson has received personal compensation for activities with Neotope, Inc. as a consultant. Dr. Asmann has nothing to disclose.Tuesday, April 29 2014, 1:00 pm-5:00 pm