ArticleHuman mutation2012
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease.Biomedicines · 2024Article
- Dual-specificity protein phosphatase 6 (DUSP6) overexpression reduces amyloid load and improves memory deficits in male 5xFAD mice.Frontiers in aging neuroscience · 2024Article
- Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer's disease.Acta neuropathologica · 2021Article
- Transcriptional Pathology Evolves over Time in Rat Hippocampus after Lateral Fluid Percussion Traumatic Brain Injury.Neurotrauma reports · 2021Article
- Familial Alzheimer's Disease and Recessive Modifiers.Molecular neurobiology · 2020Article
- Alterations in Alzheimer's Disease-Associated Gene Expression in Severe Obstructive Sleep Apnea Patients.Journal of clinical medicine · 2019Article
- Article
- APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.Molecular psychiatry · 2016Article
- Review
- Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.Molecular psychiatry · 2015Article
- Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.JAMA neurology · 2015Article
- Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2014Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 3 countries.
Funding
Abstract
Identifying genes that modify the age at onset (AAO) of Alzheimer disease and targeting them pharmacologically represent a potential treatment strategy. In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzheimer disease due to the autosomal dominant mutation p.Glu280Ala in PSEN1 (MIM# 104311; NM_000021.3:c.839A>C). The disease and its AAO are highly heritable, motivating our search for genetic variants that modulate AAO. The median AAO of dementia in carriers of the mutant allele is 49 years. Extreme phenotypic outliers for AAO in this genetically isolated population with limited environmental variance are likely to harbor onset modifying genetic variants. A narrow distribution of AAO in this kindred suggests large effect sizes of genetic determinants of AAO in these outliers. Identity by descent (IBD) analysis and a combination of bioinformatics filters have suggested several candidate variants for AAO modifiers. Future work and replication studies on these variants may provide mechanistic insights into the etiopathology of Alzheimer disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.