Evidence map›Paper›PMID 42020711›Full record

ArticleCommunications biology2026

Cell-type-aware transcriptome-wide association studies identify 91 independent risk genes for Alzheimer's disease dementia.

Qiang Liu, Randy L Parrish, Shizhen Tang, Shinya Tasaki, David A Bennett, Nicholas T Seyfried, Philip L De Jager, Vilas Menon, Aron S Buchman, Jingjing Yang

Abstract read
In one paragraph

Article in Communications biology, 2026. 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. Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Qiang LiuCenter for Computational and Quantitative Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.ORCID http://orcid.org/0009-0004-4197-6250
Randy L ParrishCenter for Computational and Quantitative Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.ORCID http://orcid.org/0009-0009-6836-4496
Shizhen TangCenter for Computational and Quantitative Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Shinya TasakiRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-3656-7394
David A BennettRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Nicholas T SeyfriedDepartment of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.ORCID http://orcid.org/0000-0002-4507-624X
Philip L De JagerCenter for Translational and Computational Neuroimmunology, Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-8057-2505
Vilas MenonCenter for Translational and Computational Neuroimmunology, Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-4096-8601
Aron S BuchmanRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-6426-2742
Jingjing YangCenter for Computational and Quantitative Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. jingjing.yang@emory.edu.ORCID http://orcid.org/0000-0002-4191-4138

Funding

Novel Bayesian statistical tools for integrating multi-omics data to help elucidate the genomic etiology of complex phenotypesR35GM138313 · NIGMS · EMORY UNIVERSITY · PI YANG, JINGJING · 2020 to 2024
$1.9M
Investigating Cis- and Trans-Genetic Regulation of Brain Transcriptomics and Proteomics Associated with AD/ADRDR01AG089703 · NIA · EMORY UNIVERSITY · PI Jingjing Yang · 2025 to 2026
$1.0M
U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) R35GM138313U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R01AG089703
6 · The paper itself

Abstract

Most existing transcriptome wide association studies (TWASs) of Alzheimer's Disease (AD) dementia only use bulk RNA-seq data and a single statistical method. Here, we utilize an omnibus TWAS (TWAS-O) pipeline that leverages multiple complementary statistical methods to integrate the snRNA-seq dataset (n = 415) of the dorsolateral prefrontal cortex (DLPFC) and the latest GWAS data of AD dementia. We fine-map TWAS risk genes by gene-based conditional analysis and conducted validation analyses by the analogous omnibus proteome-wide association studies (PWAS-O) using bulk proteomics data of DLPFC (n = 716). We identify 223 unique cell-type-aware TWAS risk genes from 350 associations across six major brain cell-types, including 91 fine-mapped independent associations, 11 of which are novel. By PWAS-O, we identify 21 significant PWAS risk genes, including 13 independent associations, which validated 31.9% independent cell-type-aware TWAS associations. By protein-protein interaction network analyses, our novel cell-type-aware TWAS findings are linked to established AD risk genes such as APOE, BIN1, and MAPT.

Indexed as

Alzheimer DiseaseGene Expression ProfilingPrefrontal CortexGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansModels, GeneticProtein Interaction MapsProteomics

Identifiers

PMID42020711
PMCPMC13287724

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.