@article {KrishnanPD5.003作者={哈斯Krishnan Qurat ul是汗和密涅瓦Carrasquillo梅丽莎·默里Thuy阮和李马和吉娜Bisceglio丹尼斯·迪克森和史蒂文Younkin布拉德利Boeve和尼尔Graff-Radford Nilufer tan}, title ={协会的研究晚发性{\ textquoteright}年代老年痴呆症风险变异和风险后皮质萎缩(PD5.003)},体积={80},数量={7}补充,页面= {PD5.003——PD5.003} ={2013},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={摘要目的:探讨晚发性{\ textquoteright}年代老年痴呆症(负载)风险变异识别从全基因组关联研究(GWAS)为他们联系后皮质萎缩(PCA)的风险。首页背景:最近GWAS负载病例对照系列的确认单核苷酸多态性(snp) 9个位点与疾病风险。调查这些变异的影响非典型变种的广告可以提供有价值的信息关于广告的表型光谱可能容易受到这些遗传风险因子。后皮质萎缩(PCA)是一种神经退行性综合征,其特征是占主导地位的视觉空间的障碍,相对节约内存和焦或不对称parieto-occipital皮层的参与。最常见的潜在病理PCA是广告在这些脑区神经病理学。基因研究集中在PCA科目需要揭示其潜在的病理生理学。设计/方法:我们评估了一组99名受试者的临床诊断和/或neuropathologic PCA收集在1697年佛罗里达的杰克逊维尔和梅奥诊所认知正常的老年人控制收集在梅奥诊所的佛罗里达州杰克逊维尔和明尼苏达州罗切斯特的梅奥诊所。我们组顶部负荷风险从九负载GWAS snp位点和研究协会与PCA的风险,调整性与APOEε4剂量在多变量逻辑回归分析范式。结果:APOEε4-tagging SNP, rs429358显著的风险与PCA (e-07或= 3.40,p = 6.1)。的ABCA7 rs3764650 SNP名义上重要的协会与PCA的风险,对广告的影响风险(或= 2.19,p = 0.011)。没有其他关联显著p < 0.05。结论:这些初步结果在一个小PCA人群表明,一些基因这种综合症的风险因素可能重叠与广告,预计给他们共同的神经病理学,尽管不同的区域分布。 Follow-up studies in larger cohorts are required to comprehend the underlying genetics of this atypical variant of AD.Supported by: National Institute on Aging (R01 032990 to NET and R01 AG018023 to NRG-R and SGY); Mayo Alzheimer{\textquoteright}s Disease Research Center: (P50 AG016574 to RCP, NRG-R, SGY, and NET); GHR Foundation Award for Alzheimer{\textquoteright}s Disease Research (MMC).Disclosure: Dr. Krishnan has nothing to disclose. Dr. ul Ain Khan has nothing to disclose. Dr. Carrasquillo has nothing to disclose. Dr. Murray has nothing to disclose. Dr. Nguyen has nothing to disclose. Dr. Ma has nothing to disclose. Dr. Bisceglio has nothing to disclose. Dr. Dickson has received personal compensation for activities with Neotope, Inc. as a consultant. Dr. Younkin has nothing to disclose. Dr. Boeve has received research support from Cephalon, Inc.; Allon Therapeutics; and GE Healthcare. Dr. Graff-Radford has received personal compensation for activities with Codman. Dr. Graff-Radford has received personal compensation in an editorial capacity for the Neurologist. Dr. Graff-Radford has received research support from Janssen, Pfizer Pharmaceuticals, Medivation, Forrest, and Allon. Dr. Taner has nothing to disclose.Wednesday, March 20 2013, 2:00 pm-7:00 pm}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/80/7_Supplement/PD5.003}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }