Whole Exome Analysis of Early Onset Alzheimer's Disease
Abstract
The primary focus toward identification of Alzheimer disease (AD) risk genes over the past five years has been testing the common disease common variant (CDCV) hypothesis through the use of genome-wide association studies (GWAS) in late onset Alzheimer disease (LOAD). While common variation clearly plays a role in AD there is a growing realization that the CDCV hypothesis is unlikely to explain all the genetic effect underlying AD. One alternative hypothesis invokes multiple rare variants (RV) in one or more genes, each with stronger individual effects than CDCV genes. We designed this project to test the rare variant hypothesis in AD by examining those cases with the most severe phenotype as determine by early onset (EOAD, cases with AAO < 60 years). Although there are three known EOAD genes (PS1, PS2 and APP) they account for only ~60-70 of familial EOAD and even less of sporadic EOAD.
Document Details
- Document Type
- Technical Report
- Publication Date
- Apr 01, 2016
- Accession Number
- AD1012967
Entities
People
- Margaret A. Pericak-Vance
Organizations
- University of Miami