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Title | Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Tosto G, Reitz C |
Journal | Mol Cell Probes |
Volume | 30 |
Issue | 6 |
Pagination | 397-403 |
Date Published | 12/2016 |
ISSN | 1096-1194 |
Keywords | Alzheimer Disease, DNA Copy Number Variations, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, High-Throughput Nucleotide Sequencing, Humans, Mutation |
Abstract | Late-onset Alzheimer's disease (AD), the most common neurodegenerative disorder in western countries, is clinically defined by progressive worsening in cognitive functions along with function and behavioral impairment. This ultimately results in complete incapacity and death. AD is a clinically and pathologically heterogeneous disease, and this is reflected by the numerous genetic findings that point to several diverse molecular mechanisms and pathways. Linkage, genome-wide association and next-generation sequencing studies have led to the identification of more than 20 novel susceptibility loci for AD. While these observations have significantly increased the knowledge of pathogenic mechanisms and potential therapeutic targets, a large part of the genetic component underlying AD is still unexplained. This review will summarize and discuss the major genetic findings and their potential impact on AD diagnosis and prediction of prognosis. |
DOI | 10.1016/j.mcp.2016.09.001 |
Alternate Journal | Mol Cell Probes |
PubMed ID | 27618776 |
Grant List | U01 AG032984 / AG / NIA NIH HHS / United States P50 AG008702 / AG / NIA NIH HHS / United States RF1 AG015473 / AG / NIA NIH HHS / United States UF1 AG047133 / AG / NIA NIH HHS / United States |