PT -期刊文章盟Nilufer谭盟——Fanggeng邹盟生茶高盟-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 TI -小说进行性核上的麻痹大脑(PSP)风险位点变异与基因表达水平(S54.002) DP - 2012年4月26日TA -神经病学PG - S54.002 S54.002 VI - 78 IP - 1补充4099 - //www.ez-admanager.com/content/78/1_Supplement/S54.002.short 4100 - //www.ez-admanager.com/content/78/1_Supplement/S54.002.full所以Neurology2012 4月26日;首页78 AB -目的:确定是否任何小说的PSP GWAS风险位点变异影响大脑的基因表达水平。背景在最近的PSP,四个位点MAPT附近STX6, EIF2AK3,和MOBP授予重大风险,除了三个暗示位点1 q41基因间的轨迹,BMS1 SLCO1A2。修改脑基因表达的基因变异也可能影响人类疾病的风险。我们假设一些小说的PSP位点变异赋予疾病风险通过影响大脑的基因表达水平。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),包括患者PSP(小脑n = 98,颞叶皮层n = 107)。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。我们评估了七个最强的PSP风险位点在我们eGWAS协会的表达水平附近的成绩单。结果:我们发现的证据cis-associations PSP风险变异和大脑之间表达水平SLCO1A2, MAPT MOBP。许多小脑之间的关联复制和颞叶皮层组织,以及在不同的病理诊断。结论:SLCO1A2, MAPT MOBP eSNPs可能至少部分解释了PSP风险协会在这些位点。 These results have implications in the search for functional variants at the novel PSP risk loci. Furthermore, they suggest that a disease-associated cisSNP may influence gene expression independently of brain region or pathology, and be mapped reliably in tissues from both affected and unaffected subjects.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. Thursday, April 26 2012, 15:00 pm-16:30 pm