Evidence map›Paper›PMID 41724706›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2026

RBFOX1 association with age at onset of Alzheimer's disease.

Laura Xicota, Rong Cheng, Stacy L Andersen, Joseph M Zmuda, Mary Wojczynski, Mary F Feitosa, Joseph Bradley, Carlos Cruchaga, Alex G Contreras, Timothy J Hohman and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Laura XicotaDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Rong ChengDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Stacy L AndersenSection of Geriatrics, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
Joseph M ZmudaDepartment of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Mary WojczynskiDepartment of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Mary F FeitosaDivision of Biology and Biomedical Sciences, Washington University, St. Louis, Missouri, USA.
Joseph BradleyDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Carlos CruchagaNeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, Missouri, USA.
Alex G ContrerasVanderbilt Memory and Alzheimer's Center Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Timothy J HohmanVanderbilt Memory and Alzheimer's Center Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Dolly Reyes-DumeyerDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Badri V VardarajanDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Stephanie CosentinoDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Richard MayeuxDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Joseph H LeeDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Sandra BarralDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Long‐Life Family Study (LLFS), Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA), and The National Institute on Aging Alzheimer's Disease Family Based Study (NIA‐LOAD FBS)

Funding

The Long Life Family StudyU19AG063893 · NIA · WASHINGTON UNIVERSITY · PI Michael A. Province · 2019 to 2026
$125.4M
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
Genetic Epidemiology and Multi-Omics Analyses in Familial and Sporadic Alzheimer's Disease Among Secular Caribbean Hispanics and Religious OrderR01AG067501 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P, MILLER, GARY W · 2020 to 2024
$11.7M
Genetic Modifiers of Alzheimer Disease in PSEN1 Mutation Carriers in Puerto RicoR56AG051876 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEE, JOSEPH HYUNGWOO, MAYEUX, RICHARD P · 2016 to 2016
$842k
Alzheimer's Association ZEN-22-848604Alzheimer's Association Zenith Fellows Award ZEN-22-848604Alzheimer's Disease Neuroimaging InitiativeBright Focus A2015633SBright Focus R01AG058918Bright Focus R01AG067501BrightFocus Foundation A2015633Sde Influencia Genetica en AlzheimerEarly-Onset Alzheimer's Disease Whole-Genome Sequencing ProjectNational CenterNational Institute on Aging Alzheimer's Disease Family Based StudyNational Institute on Aging (NIA) R01AG041797National Institute on Aging (NIA) U24AG026395NCATS NIH HHS UL1TR001873NIA NIH HHS R01 AG067501NIA NIH HHS R56 AG051876NIH HHS U01-AG023712NIH HHS U01-AG023744NIH HHS U01-AG023749NIH HHS U01-AG023755NIH HHS U19 AG063893NIH HHS UL1TR001873Phenotype Harmonization Consortium R01AG059716Phenotype Harmonization Consortium U01AG068057Phenotype Harmonization Consortium U24AG074855Washington Heights-Inwood Columbia Aging Project AG066107Washington Heights-Inwood Columbia Aging Project AG072474Wisconsin Registry for Alzheimer's Prevention (WRAP)
6 · The paper itself

Abstract

introductionGenetic contributors to early onset Alzheimer's disease (AD) beyond APP and PSEN1/2 remain unknown. Identifying novel loci may reveal disease mechanisms and therapeutic targets. We investigated genetic variants influencing age at onset in early onset families from the Long-Life Family Study (LLFS).

methodsSix families with at least two early onset cases (onset ≤ 65) were identified among 3476 LLFS participants. Genome-wide linkage analysis of age at onset was followed by single nucleotide polymorphism association. Validation analyses were performed in nine independent cohorts, alongside blood and brain transcriptomic analyses.

resultsThree significant linkage regions were identified, including RBFOX1 (logarithm of the odds = 4.41). RBFOX1 variants were associated with age at onset and cognitive phenotypes. A consistent association of RBFOX1 was observed across validation cohorts. Blood transcriptomics revealed RBFOX1 overexpression was associated with an earlier onset. DISCUSSION: RBFOX1 may influence AD age of onset, nominating the gene as a potential therapeutic target for delaying or preventing dementia.

Indexed as

Alzheimer DiseaseGenetic Predisposition to DiseaseRNA Splicing FactorsAgedAge of OnsetFemaleGenetic LinkageGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideRBFOX1 protein, humanRNA Splicing Factorsage at onset of Alzheimer's diseasefamilial early onset Alzheimer's diseaselinkage analysisRNA gene expression levelssingle nucleotide polymorphism association analyses

Identifiers

PMID41724706
PMCPMC12928012

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 Socratic graph.