Evidence map›Paper›PMID 40084664›Full record

ArticleJournal of Alzheimer's disease : JAD2025

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.

Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes.medRxiv : the preprint server for health sciences · 2025
    Article
  4. Article
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors.

Dongyu WangDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0002-1317-2739
Alexandra ScaliciDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0003-2336-685X
Yanbing WangDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0002-8621-7360
Honghuang LinDepartment of Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.ORCID 0000-0003-3043-3942
Achilleas PitsillidesDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0002-2658-1566
Nancy Heard-CostaDepartment of Medicine, Boston University School of Medicine, Boston, MA, USA.ORCID 0000-0001-9730-0306
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St Louis, MO, USA.ORCID 0000-0002-0276-2899
Ellen ZiegemeierDepartment of Neurology, Washington University School of Medicine, St Louis, MO, USA.ORCID 0009-0004-3934-6110
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3409-1110
Myriam FornageBrown Foundation Institute of Molecular Medicine, McGovern Medical School and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-8813-0544
Philip L De JagerCenter for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Ellen WijsmanDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Josée DupuisDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0003-2871-3603
Alan E RentonRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sudha SeshadriNHLBI Framingham Heart Study, Framingham, MA, USA.ORCID 0000-0001-6135-2622
Alison M GoateRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-0576-2472
Alzheimer's Disease Neuroimaging Initiative (ADNI), The Alzheimer's Disease Sequencing Project
Anita L DeStefanoDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0002-9335-2819
Gina M PelosoDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID 0000-0002-5355-8636

Funding

Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approachesU01AG058589 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BOERWINKLE, ERIC A., DE JAGER, PHILIP L · 2018 to 2022
$11.1M
Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approachesU01AG068221 · NIA · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI DESTEFANO, ANITA L, LIN, HONGHUANG · 2021 to 2024
$2.5M
NIA NIH HHS U01 AG058589NIA NIH HHS U01 AG068221
6 · The paper itself

Abstract

BackgroundPrior studies examined variants within presenilin-2 (

Indexed as

Alzheimer DiseaseAmyloid beta-Protein PrecursorGenetic VariationPresenilin-1Presenilin-2AgedExome SequencingFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleWhole Genome SequencingAmyloid beta-Protein PrecursorAPP protein, humanPresenilin-1Presenilin-2PSEN1 protein, humanPSEN2 protein, humanAlzheimer's diseasegenetic databasesgenetic profilewhole exome sequencingwhole genome sequencing

Identifiers

PMID40084664
PMCPMC13174641

What OpenQuestion holds

Textmetadata
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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 OpenQuestion graph.