Evidence map›Paper›PMID 42238464›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias.

Yuk Yee Leung, Edoardo M Marcora, Adam Naj, Tulsi Patel, Kathy Sedgwick, Zivadin Katanic, Ryan M Corces, Li-San Wang, Richard Mayeux, Alison Goate and 4 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

14 authors.

Yuk Yee LeungDepartment of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania, Philadelphia, PA 19104, United States.
Edoardo M MarcoraDepartment of Neuroscience and Department of Genetics and Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY, 10029, USA.
Adam NajDepartment of Biostatistics, Epidemiology, and Informatics, Penn Neurodegeneration Genomics Center, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-9621-2942
Tulsi PatelDepartment of Neuroscience and Department of Genetics and Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY, 10029, USA.
Kathy SedgwickLumina Corps 1010 Wayne Ave # 570, Silver Spring, MD 20910.
Zivadin KatanicDepartment of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania, Philadelphia, PA 19104, United States.
Ryan M CorcesGladstone Institute of Neurological Disease, 1650 Owens Street, San Francisco, CA, 94158, USA; Gladstone Institute of Data Science and Biotechnology, 1650 Owens Street, San Francisco, CA, 94158, USA; Department of Neurology, University of California San Francisco, 16514(th) ST, Suite 212, San Francisco, CA, 94518, USA.
Li-San WangDepartment of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania, Philadelphia, PA 19104, United States.
Richard MayeuxTaub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University. 630 West 168 Street, New York, NY 10032.ORCID 0000-0001-6519-9696
Alison GoateDepartment of Neuroscience and Department of Genetics and Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY, 10029, USA.ORCID 0000-0002-0576-2472
Lindsay FarrerDepartment of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania, Philadelphia, PA 19104, United States.
Brian KunkleDr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Badri VardarajanTaub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University. 630 West 168 Street, New York, NY 10032.

Funding

Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
TBDU19AG068753 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Lindsay A. Farrer · 2020 to 2026
$42.4M
THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3M
Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS)U01AG057659 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MAYEUX, RICHARD P, PERICAK-VANCE, MARGARET A. · 2017 to 2021
$34.4M
Genome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID, WANG, LI-SAN · 2016 to 2025
$32.8M
The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS)U24AG056270 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gary Wayne Beecham, TATIANA M. FOROUD · 2017 to 2026
$31.4M
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Margaret Sewell · 2020 to 2026
$31.0M
Additional Sequencing for the Alzheimer Disease Sequencing Project (ADSP) the Follow-Up Study (FUS), The Global Population InitiativeU01AG076482 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Clifton L Dalgard, ANTHONY JOHN GRISWOLD · 2022 to 2026
$26.9M
RL5: Research Education CoreP30AG072978 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Ann C. McKee · 2021 to 2026
$25.6M
Project 4: Cross-species Dissection of Cellular Response to APOE Genotype and AD Pathology Using Single-cell Multi-omicsP01AG073082 · NIA · J. DAVID GLADSTONE INSTITUTES · PI HUANG, YADONG, MUCKE, LENNART · 2021 to 2025
$23.4M
Inclusion of sub-group of ASPREE samples into the ADSPU01AG066767 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CUCCARO, MICHAEL L, KUNKLE, BRIAN WILLIAM · 2020 to 2024
$21.9M
The Alzheimer Disease Sequence Analysis CollaborativeU01AG058654 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI BUSH, WILLIAM S, FARRER, LINDSAY A. · 2018 to 2022
$14.6M
NHGRI NIH HHS UM1 HG012076NHLBI NIH HHS R01 HL168174NIA NIH HHS P01 AG073082NIA NIH HHS P30 AG066514NIA NIH HHS P30 AG072978NIA NIH HHS R01 AG048927NIA NIH HHS R01 AG054060NIA NIH HHS R01 AG066107NIA NIH HHS R01 AG066152NIA NIH HHS R01 AG067501NIA NIH HHS R01 AG072474NIA NIH HHS R01 AG073435NIA NIH HHS R01 AG080810NIA NIH HHS R56 AG074604NIA NIH HHS RF1 AG061351NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG057659NIA NIH HHS U01 AG058635NIA NIH HHS U01 AG058654NIA NIH HHS U01 AG062602NIA NIH HHS U01 AG062943NIA NIH HHS U01 AG066752NIA NIH HHS U01 AG066767NIA NIH HHS U01 AG068028NIA NIH HHS U01 AG072573NIA NIH HHS U01 AG076482NIA NIH HHS U01 AG082665NIA NIH HHS U19 AG068753NIA NIH HHS U24 AG041689NIA NIH HHS U24 AG056270NIA NIH HHS U54 AG052427
6 · The paper itself

Abstract

Background: The Alzheimer's Disease Sequencing Project Gene Verification Committee developed a systematic framework to adjudicate genetic evidence for AD and related dementias, addressing wide variation in association quality. Methods: Phase 1 established tiered criteria by evaluating 23 nominated loci across study designs. Phase 2 applied this framework to 29 large-scale genome-wide studies published since 2015, tiering 163 unique loci. Results: Phase 1 yielded 17 high-confidence loci (12 linked to specific genes), and Phase 2 identified 111 high-confidence loci/genes with replicated associations across ancestries and convergent single-variant/variant-set evidence. Prioritized loci highlight APP processing, microglial immunity, and lipid metabolism pathways, including genes not captured by existing resources like Agora or Open Targets. Summarized results can be viewed at https://topgenes.niagads.org/. Conclusion: This rigorously adjudicated catalog represents the most comprehensive AD/ADRD genetics resource to date, providing a foundation for functional validation and therapeutic discovery with broad applicability to complex diseases.

Identifiers

PMID42238464
PMCPMC13228686

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