TY -的T1 -大脑的表情全基因组关联研究(eGWAS)识别人类疾病有关的变异(P05.069) JF -神经学乔-神经病学SP - P05.069 LP - P05.069六世- 78 - 1补充AU - Nilufer谭盟——Fanggeng邹盟生茶高盟首页-柯蒂斯Younkin盟茱莉亚骗子非盟-弗农Pankratz说道盟Mariet艾伦AU -密涅瓦Carrasquillo AU -克里斯托弗·罗利盟Asha Nair AU -苏米特Middha AU - Sooraj Maharjan盟Thuy阮AU -马李盟金伯利Malphrus AU -瑞恩Palusak盟莎拉·林肯AU -吉娜Bisceglio盟江诗丹顿Georgescu盟Kouri Naomi AU -克里斯托弗·科尔伯特盟金Jen AU -罗纳德·彼得森盟尼尔Graff-Radford AU -丹尼斯·迪克森盟史蒂文Younkin Y1 - 2012/04/25 UR - //www.ez-admanager.com/content/78/1_Supplement/P05.069.abstract N2 -目的:确定监管变异的贡献,影响大脑的基因表达水平(eSNPs)人类中枢神经系统(CNS)和non-CNS疾病。背景修改脑基因表达的基因变异也可能影响人类疾病的风险。我们假设大脑eSNPs丰富的遗传变异与人类疾病。设计/方法:我们773年24526转录表达水平测量大脑小脑和颞叶皮层的样品解剖学科与阿尔茨海默病(AD,小脑n = 197,颞叶皮层n = 202)和其他大脑疾病(non-AD,小脑n = 177,颞叶皮层n = 197)。我们一个表达式进行全基因组关联研究(eGWAS)使用213528 cisSNPs在±100 kb的测试记录。结果:我们发现2980小脑cisSNP /协会重要的广告和non-ADs转录水平。其中,2087人在颞叶皮层也重要。小脑cisSNPs顶部2.4倍浓缩了人类疾病相关变异(术中;10 - 6)。我们确定了小说cisSNP /记录关联对人类疾病有关的变异,包括中枢神经系统疾病,如进行性核上的麻痹和帕金森病。我们还证实知道cisSNPs为non-CNS涉及中枢神经系统疾病和其他疾病,如系统性红斑狼疮和1型糖尿病。结论:大脑疾病有关的变异之间cisSNPs倡导者的显著富集基因表达变化机制,许多中枢神经系统和non-CNS疾病。结合评估表达式和疾病GWAS可能提供补充信息发现的人类疾病变异与功能的影响。 Our findings have implications for the design and interpretation of eGWAS in general and the use of brain expression quantitative trait loci in the study of human disease genetics.Supported by: R01 AG032990, P50 AG016574, KL2 RR024151.Disclosure: Dr. Taner has nothing to disclose. Dr. Zou has nothing to disclose. Dr. Chai has nothing to disclose. Dr. Younkin has nothing to disclose. Dr. Crook has nothing to disclose. Dr. Pankratz has received research support from Abbott Laboratories, Inc. Dr. Allen has nothing to disclose. Dr. Carrasquillo has nothing to disclose. Dr. Rowley has nothing to disclose. Dr. Nair has nothing to disclose. Dr. Middha has nothing to disclose. Dr. Maharjan has nothing to disclose. Dr. Nguyen has nothing to disclose. Dr. Ma has nothing to disclose. Dr. Malphrus has nothing to disclose. Dr. Palusak has nothing to disclose. Dr. Lincoln has nothing to disclose. Dr. Bisceglio has nothing to disclose. Dr. Georgescu has nothing to disclose. Dr. Kouri has nothing to disclose. Dr. Kolbert has nothing to disclose. Dr. Jen has nothing to disclose. Dr. Petersen has received personal compensation for activities with Pfizer, Inc., Janssen Alzheimer's Immunotherapy, Elan Pharmaceuticals, and GE Healthcare. Dr. Graff-Radford has received personal compensation for activities with Codman as a participant on 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 Pharmaceuticals, Inc., Pfizer Inc, Medivation, Inc., Forrest Laboratories and Allon Therapeutics Inc. Dr. Dickson has nothing to disclose. Dr. Younkin has nothing to disclose. Wednesday, April 25 2012, 14:00 pm-19:00 pm ER -