作者
Joseph S Reddy, Mariet Allen, Charlotte CG Ho, Stephanie R Oatman, Özkan İş, Zachary S Quicksall, Xue Wang, Jiangli Jin, Tulsi A Patel, Troy P Carnwath, Thuy T Nguyen, Kimberly G Malphrus, Sarah J Lincoln, Minerva M Carrasquillo, Julia E Crook, Takahisa Kanekiyo, Melissa E Murray, Guojun Bu, Dennis W Dickson, Nilüfer Ertekin-Taner
发表日期
2021/5/21
期刊
Acta Neuropathologica Communications
卷号
9
期号
1
页码范围
93
出版商
BioMed Central
简介
Cerebral amyloid angiopathy (CAA) contributes to accelerated cognitive decline in Alzheimer’s disease (AD) dementia and is a common finding at autopsy. The APOEε4 allele and male sex have previously been reported to associate with increased CAA in AD. To inform biomarker and therapeutic target discovery, we aimed to identify additional genetic risk factors and biological pathways involved in this vascular component of AD etiology. We present a genome-wide association study of CAA pathology in AD cases and report sex- and APOE-stratified assessment of this phenotype. Genome-wide genotypes were collected from 853 neuropathology-confirmed AD cases scored for CAA across five brain regions, and imputed to the Haplotype Reference Consortium panel. Key variables and genome-wide genotypes were tested for association with CAA in all individuals and in sex and APOEε4 stratified subsets …
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