ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2023
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
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- Promoter mutagenesis and a massively parallel reporter screen of thebioRxiv : the preprint server for biology · 2026Article
- Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.NPJ dementia · 2026Article
- Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Apolipoprotein E in Alzheimer's disease: molecular insights and therapeutic opportunities.Molecular neurodegeneration · 2025Review
- Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.Journal of neuropathology and experimental neurology · 2025Article
- Unidirectional and bidirectional causation between smoking and blood DNA methylation: evidence from twin-based Mendelian randomisation.European journal of epidemiology · 2025Article
- Unidirectional and Bidirectional Causation between Smoking and Blood DNA Methylation: Evidence from Twin-based Mendelian Randomisation.medRxiv : the preprint server for health sciences · 2024Article
- Factors Affecting Resilience and Prevention of Alzheimer's Disease and Related Dementias.Annals of neurology · 2024Review
- Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Article
- Contributions of rare and common variation to early-onset and atypical dementia risk.Cold Spring Harbor molecular case studies · 2023Article
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Authors and funding
30 authors at 7 institutions in 2 countries.
Funding
Abstract
introductionGenetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity to discover AAO genetic associations.
methodsA genetic association study was conducted to examine ADAD AAO in 340 individuals with the PSEN1 E280A mutation via TOPMed array imputation. Replication was assessed in two ADAD cohorts, one sporadic early-onset AD study and four late-onset AD studies.
results13 variants had p<1×10 DISCUSSION: Variants with suggestive associations with AAO were associated with biological processes including clusterin, heparin sulfate, and amyloid processing. The detection of these effects in the presence of a strong mutation for ADAD reinforces their potentially impactful role.
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