Evidence map›Paper›PMID 42608584›Full record

ArticleEuropean archives of psychiatry and clinical neuroscience2026

Transcriptome-wide association analysis of Alzheimer's disease: construction and clinical validation of transcriptomic risk scores.

Peng-Fei Zhang, Zhongqian Juan, Jialin Han, Yue Wang, Tianshu Zhu, Deyun Pang, Xin Zheng, Zhiming Lu

Abstract readValidation Study
PubMed Publisher
In one paragraph

Article in European archives of psychiatry and clinical neuroscience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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

8 authors.

Peng-Fei Zhang *Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China. 2019020844@qdu.edu.cn.ORCID https://orcid.org/0000-0002-2828-9067
Zhongqian Juan *School of Medical Laboratory, Shandong Second Medical University, Weifang, 261053, China.
Jialin HanDepartment of Clinical Laboratory, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China.
Yue WangDepartment of Clinical Laboratory, Luohe Rehabilitation Hospital, Luohe Medical College, Luohe, 462002, Henan, China.
Tianshu ZhuDepartment of Clinical Laboratory, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China.
Deyun PangSchool of Medical Laboratory, Shandong Second Medical University, Weifang, 261053, China.
Xin ZhengDepartment of Laboratory Medicine, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Jinan, 250021, Shandong, China.
Zhiming LuDepartment of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China. luzhiming@sdu.edu.cn.

Funding

the National Natural Science Foundation of China 82272414
6 · The paper itself

Abstract

Early identification of individuals at high risk for Alzheimer's disease (AD) is crucial for disease prevention and intervention. This study aims to develop AD-specific transcriptomic risk scores (TRSs) through multi-tissue transcriptome-wide association study (TWAS) and to evaluate its clinical utility in AD diagnosis and risk prediction. Using GWAS summary statistics combined with expression quantitative trait loci (eQTL) data from 14 tissues, a multi-tissue TWAS approach was applied to identify AD-associated genes. Peripheral blood RNA expression data from the ADNI and GEO databases were used to construct the AD-specific TRSs. The associations of TRSs with AD pathological features and cognitive function were assessed in two independent cohorts. Furthermore, the diagnostic performance, differential diagnostic capability, and risk prediction efficiency of TRSs were evaluated. The TWAS identified 131 genes significantly associated with AD. The TRSs were significantly elevated in patients with AD and mild cognitive impairment (MCI) compared to cognitively normal (CN) individuals, and showed significant correlations with AD pathological markers and cognitive performance. When combined with APOE4 status, the TRSs demonstrated robust diagnostic ability for AD and MCI. When combined with age, the TRSs showed good diagnostic performance in distinguishing AD from frontotemporal dementia (FTD) (AUC = 0.86). Additionally, the TRSs effectively predicted the risk of progression to AD in non-AD individuals (HR = 1.74). The AD-specific TRSs developed in this study shows promising clinical utility in AD diagnosis, differential diagnosis, and risk prediction, providing valuable translational medical evidence for early screening and precision prevention of Alzheimer's disease.

Indexed as

Alzheimer DiseaseCognitive DysfunctionGenome-Wide Association StudyTranscriptomeAgedAged, 80 and overFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreHumansMaleAlzheimer’s diseaseEarly diagnosisRisk predictionTranscriptome-wide association studyTranscriptomic risk scores

Identifiers

PMID42608584

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