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Whole Exome Analysis of Early Onset Alzheimer's Disease

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Technical Report,01 Mar 2015,31 Mar 2016

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University of Miami Miami United States

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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.

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