Evidence map›Paper›PMID 41427057›Full record

ArticleNPJ dementia2025

Integrated genomic analysis and CRISPRi implicates

Yuk Yee Leung, Pavel P Kuksa, Luke Carter, Jeffrey Cifello, Emily Greenfest-Allen, Otto Valladares, Louisa Boateng, Shannon Laub, Natalia Tulina, Sofia Moura and 12 more

Abstract read
In one paragraph

Article in NPJ dementia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors.

Yuk Yee LeungPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Pavel P KuksaPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Luke CarterPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Jeffrey CifelloPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Emily Greenfest-AllenPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Otto ValladaresPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Louisa BoatengPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Shannon LaubPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Natalia TulinaPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Sofia MouraJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL USA.
Aura RamirezJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL USA.
Katrina CelisJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL USA.
Fulai JinDepartment of Genetics and Genome Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH USA.
Ru FengCenter for Statistical Genetics, The Gertrude H. Sergievsky Center, Columbia University, New York, NY USA.
Gao WangCenter for Statistical Genetics, The Gertrude H. Sergievsky Center, Columbia University, New York, NY USA.
Phil De JagerCenter for Statistical Genetics, The Gertrude H. Sergievsky Center, Columbia University, New York, NY USA.
Jeffery M VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL USA.
Liyong WangJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL USA.
Struan F A GrantPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Gerard D SchellenbergPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Alessandra ChesiPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Li-San WangPenn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.

Funding

Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3M
Genome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID, WANG, LI-SAN · 2016 to 2025
$32.8M
Genome Wide Association Study for Childhood ObesityR01HD056465 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2008 to 2024
$9.5M
FunGen-xQTL: Unraveling the genetic basis of molecular functions in Alzheimer's DiseaseR01AG086467 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Julia TCW, Gao Wang · 2025 to 2026
$7.2M
Functional genomic studies in diverse populations to characterize risk loci for Alzheimer DiseaseU01AG072579 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI DYKXHOORN, DEREK MICHAEL, GRISWOLD, ANTHONY JOHN · 2021 to 2025
$6.9M
Robust mapping of chromatin loops from sparse or single cell Hi-C data with DeepLoopR01HG009658 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI Fulai Jin · 2017 to 2026
$5.1M
Elucidation of Genetic Effects on Sleep and Circadian TraitsR01HL143790 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI GEHRMAN, PHILIP RICHARD, GRANT, STRUAN F A · 2018 to 2021
$3.6M
Variant to gene mapping for Alzheimer's DiseaseR01AG057516 · NIA · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2017 to 2021
$3.5M
STAG2 mutations and 3D genome organization in glioblastoma multiformeR01CA267872 · NCI · GEORGETOWN UNIVERSITY · PI Fulai Jin, TODD A WALDMAN · 2022 to 2026
$2.7M
Mapping heritable chromatin loop variants with allele-specific Hi-C analysisR01HG012384 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI Alan D Attie, Fulai Jin · 2023 to 2026
$2.6M
Multiomics data integration methods to discover putative causal variants, genes and patient heterogeneity for Alzheimers diseaseR01AG076901 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gao Wang · 2023 to 2026
$2.4M
NCI NIH HHS R01 CA267872NHGRI NIH HHS R01 HG009658NHGRI NIH HHS R01 HG012384NHGRI NIH HHS R35 HG011959NHLBI NIH HHS R01 HL143790NIA NIH HHS R01 AG057516NIA NIH HHS R01 AG076901NIA NIH HHS R01 AG085518NIA NIH HHS R01 AG086467NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG072579NIA NIH HHS U24 AG041689NIA NIH HHS U54 AG052427NICHD NIH HHS R01 HD056465
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified numerous loci linked to late-onset Alzheimer's disease (LOAD), but the pan-brain regional effects of these loci remain largely uncharacterized. To address this, we systematically analyzed all LOAD-associated regions reported by Bellenguez et al. using the FILER functional genomics catalog across 174 datasets, including enhancers, transcription factors, and quantitative trait loci. We identified 41 candidate causal variant-effector gene pairs and assessed their impact using enhancer-promoter interaction data, variant annotations, and brain cell-type-specific gene expression. Notably, the LOAD risk allele of rs74504435 at the

Indexed as

Computational biology and bioinformaticsGeneticsNeurologyNeuroscience

Identifiers

PMID41427057
PMCPMC12711570

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.