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Genetic architecture of Alzheimer's disease.

TitleGenetic architecture of Alzheimer's disease.
Publication TypeJournal Article
Year of Publication2020
AuthorsNeuner SM, Tcw J, Goate AM
JournalNeurobiol Dis
Date Published2020 09
KeywordsAlzheimer Disease, Genetic Predisposition to Disease, Humans

Advances in genetic and genomic technologies over the last thirty years have greatly enhanced our knowledge concerning the genetic architecture of Alzheimer's disease (AD). Several genes including APP, PSEN1, PSEN2, and APOE have been shown to exhibit large effects on disease susceptibility, with the remaining risk loci having much smaller effects on AD risk. Notably, common genetic variants impacting AD are not randomly distributed across the genome. Instead, these variants are enriched within regulatory elements active in human myeloid cells, and to a lesser extent liver cells, implicating these cell and tissue types as critical to disease etiology. Integrative approaches are emerging as highly effective for identifying the specific target genes through which AD risk variants act and will likely yield important insights related to potential therapeutic targets in the coming years. In the future, additional consideration of sex- and ethnicity-specific contributions to risk as well as the contribution of complex gene-gene and gene-environment interactions will likely be necessary to further improve our understanding of AD genetic architecture.

Pubmed Link
Alternate JournalNeurobiol Dis
PubMed ID32565066
PubMed Central IDPMC7409822
Grant ListU01 AG052411 / AG / NIA NIH HHS / United States
RF1 AG058501 / AG / NIA NIH HHS / United States
K01 AG062683 / AG / NIA NIH HHS / United States
U01 AG058635 / AG / NIA NIH HHS / United States
U19 AG032438 / AG / NIA NIH HHS / United States

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