Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease

Introduction Genes implicated by genome‐wide association studies and family‐based studies of Alzheimer's disease (AD) are largely discordant. We hypothesized that genes identified by sequencing studies like the Alzheimer's Disease Sequencing Project (ADSP) may bridge this gap and highlight...

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Veröffentlicht in:Alzheimer's & dementia : diagnosis, assessment & disease monitoring Jg. 13; H. 1; S. e12255 - n/a
Hauptverfasser: Xue, Diane, Bush, William S., Renton, Alan E., Marcora, Edoardo A., Bis, Joshua C., Kunkle, Brian W., Boerwinkle, Eric, DeStefano, Anita L., Farrer, Lindsay, Goate, Alison, Mayeux, Richard, Pericak‐Vance, Margaret, Schellenberg, Gerard, Seshadri, Sudha, Wijsman, Ellen, Haines, Jonathan L., Blue, Elizabeth E.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States John Wiley & Sons, Inc 2021
John Wiley and Sons Inc
Wiley
Schlagworte:
Alzheimer's disease
Biomarkers
Consortia
Dementia
Gene expression
Genealogy
genetic architecture
Genetics
genome
Genomes
Health risk assessment
Hispanic people
Literature reviews
networks
Neuropathology
Nominations
Pathogenesis
pathways
Segregation
genetic architecture
genome
pathways
networks
Alzheimer's disease
ISSN:2352-8729, 2352-8729
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Zusammenfassung:Introduction Genes implicated by genome‐wide association studies and family‐based studies of Alzheimer's disease (AD) are largely discordant. We hypothesized that genes identified by sequencing studies like the Alzheimer's Disease Sequencing Project (ADSP) may bridge this gap and highlight shared biological mechanisms. Methods We performed structured literature review of genes prioritized by ADSP studies, genes underlying familial dementias, and genes nominated by genome‐wide association studies. Gene set enrichment analyses of each list identified enriched pathways. Results The genes prioritized by the ADSP, familial dementia studies, and genome‐wide association studies minimally overlapped. Each gene set identified dozens of enriched pathways, several of which were shared (e.g., regulation of amyloid beta clearance). Discussion Alternative study designs provide unique insights into AD genetics. Shared pathways enriched by different genes highlight their relevance to AD pathogenesis, while the patterns of pathway enrichment unique to each gene set provide additional targets for functional studies.
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ISSN:2352-8729
2352-8729
DOI:10.1002/dad2.12255