Article
Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease.
BMC medical genomics - 12 Aug 2016
Nho Kwangsik, Horgusluoglu Emrin, Kim Sungeun, Risacher Shannon L, Kim Dokyoon, Foroud Tatiana, Aisen Paul S, Petersen Ronald C, Jack Clifford R, Shaw Leslie M, Trojanowski John Q, Weiner Michael W, Green Robert C, Toga Arthur W, Saykin Andrew J
Abstract excerpt
BACKGROUND: Pathogenic mutations in PSEN1 are known to cause familial early-onset Alzheimer's disease (EOAD) but common variants in PSEN1 have not been found to strongly influence late-onset AD (LOAD). The association of rare variants in PSEN1 with LOAD-related endophenotypes has received little attention. In this study, we performed a rare variant association analysis of PSEN1 with quantitative biomarkers of...
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