RT期刊文章SR电子T1小说进行性核上的麻痹(PSP)风险位点变异与大脑基因表达水平(S54.002)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP S54.002 OP S54.002 VO 78是1补充A1 Nilufer tan A1 Fanggeng邹A1高Se首页ng柴A1柯蒂斯Younkin A1茱莉亚骗子A1弗农Pankratz说道A1 Mariet艾伦A1密涅瓦Carrasquillo A1克里斯托弗·罗利A1亚莎Nair A1苏米特Middha A1 Sooraj Maharjan A1 Thuy阮A1李马A1金伯利Malphrus A1瑞安Palusak A1莎拉·林肯A1吉娜Bisceglio A1江诗丹顿Georgescu A1 Naomi Kouri A1克里斯托弗·科尔伯特A1金Jen A1罗纳德·彼得森A1尼尔Graff-Radford A1丹尼斯·迪克森A1史蒂文Younkin年2012 UL //www.ez-admanager.com/content/78/1_Supplement/S54.002.abstract 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。这些结果具有广泛的意义在小说的搜索功能变体PSP风险位点。此外,他们认为,疾病相关cisSNP可能会影响基因表达独立的大脑区域或病理学和可靠地映射在组织的影响和影响的学科。支持:R01 AG032990、P50 AG016574 KL2 RR024151。披露:谭博士没有披露。 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