Evidence map›Paper›PMID 35246634›Full record

SynthesisMolecular psychiatry2022

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.

Dmitry Prokopenko, Sanghun Lee, Julian Hecker, Kristina Mullin, Sarah Morgan, Yuriko Katsumata, Alzheimer’s Disease Neuroimaging Initiative (ADNI), Michael W Weiner, David W Fardo, Nan Laird and 4 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Molecular psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
5.0field-weighted citation impact, top 4% of its field
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

24 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  10. Review
  11. Empowering genome-wide association studies via a visualizable test based on the regional association score.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  12. Review
  13. Review
  14. Article
  15. Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset.medRxiv : the preprint server for health sciences · 2024
    Article
  16. Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Article
  17. Article
  18. Article
  19. Review
  20. Article
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

14 authors at 6 institutions in 4 countries.

Dmitry ProkopenkoGenetics and Aging Research Unit and The Henry and Allison McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-1844-5652
Sanghun LeeDepartment of Medical Consilience, Graduate School, Dankook University, Yongin, South Korea.
Julian HeckerHarvard Medical School, Boston, MA, USA.
Kristina MullinGenetics and Aging Research Unit and The Henry and Allison McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Sarah MorganHarvard Medical School, Boston, MA, USA.
Yuriko KatsumataDepartment of Biostatistics, University of Kentucky, Lexington, KY, USA.ORCID http://orcid.org/0000-0002-0188-8094
Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Michael W WeinerDepartment of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA.
David W FardoDepartment of Biostatistics, University of Kentucky, Lexington, KY, USA.ORCID http://orcid.org/0000-0002-7207-4696
Nan LairdDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Lars BertramLübeck Interdisciplinary Platform for Genome Analytics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-0108-124X
Winston HideHarvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8621-3271
Christoph Lange *Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Rudolph E Tanzi *Genetics and Aging Research Unit and The Henry and Allison McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. tanzi@helix.mgh.harvard.edu.ORCID http://orcid.org/0000-0002-7032-1454
Harvard University · USBeth Israel Deaconess Medical Center · USUniversity of Kentucky · USBrigham and Women's Hospital · USMassachusetts General Hospital · USUniversity of California, San Francisco · US

Funding

National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
University of Washington Alzheimer's Disease Research CenterP30AG066509 · NIA · UNIVERSITY OF WASHINGTON · PI SUMAN JAYADEV · 2020 to 2026
$29.0M
University of Kentucky Alzheimer's Disease Research CenterP30AG072946 · NIA · UNIVERSITY OF KENTUCKY · PI LINDA J VAN ELDIK · 2021 to 2026
$23.5M
Genomic Architecture of a Key Alzheimer's Disease Mimic: CARTSR56AG057191 · NIA · UNIVERSITY OF KENTUCKY · PI FARDO, DAVID WILLIAM · 2019 to 2020
$1.1M
NIA NIH HHS P30 AG066509NIA NIH HHS P30 AG072946NIA NIH HHS R56 AG057191NIA NIH HHS U24 AG021886
6 · The paper itself

Abstract

Alzheimer's disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alternate allele frequency <0.01) associated with AD in a region-based, whole-genome sequencing (WGS) association study (rvGWAS) of two independent AD family datasets (NIMH/NIA; 2247 individuals; 605 families). Employing a sliding window approach across the genome, we identified several regions that achieved association p values <10

Indexed as

Alzheimer DiseaseDithionitrobenzoic AcidDystrophin-Associated ProteinsGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsGuanylate KinasesHumansNeuropeptidesPolymorphism, Single NucleotideTumor Suppressor ProteinsWhole Genome SequencingDithionitrobenzoic AcidDLG2 protein, humanDTNB protein, humanDystrophin-Associated ProteinsGuanylate KinasesNeuropeptidesTumor Suppressor Proteins

Identifiers

PMID35246634
PMCPMC9126808
OpenAlexW4221133543

What OpenQuestion holds

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Registered trials

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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.