Evidence map›Paper›PMID 42080296›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2026

Integrating polygenic and transcriptional risk scores for detecting Alzheimer's disease.

Jiyun Hwang, Jung-Min Pyun, Joo-Yeon Lee, Jeong Su Park, Paula J Bice, Andrew J Saykin, Joohon Sung, SangYun Kim, Young Ho Park, Kwangsik Nho and 1 more

Abstract read
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Integrating polygenic and transcriptional risk scores for detecting Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    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

11 authors.

Jiyun HwangGenome and Health Big Data Laboratory, Graduate School of Public Health, Seoul National University, Seoul, Republic of Korea.
Jung-Min PyunDepartment of Neurology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.
Joo-Yeon LeeGenome and Health Big Data Laboratory, Graduate School of Public Health, Seoul National University, Seoul, Republic of Korea.
Jeong Su ParkDepartment of Laboratory Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.
Paula J BiceCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Andrew J SaykinCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Joohon SungGenome and Health Big Data Laboratory, Graduate School of Public Health, Seoul National University, Seoul, Republic of Korea.
SangYun KimDepartment of Neurology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.
Young Ho ParkDepartment of Neurology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.
Kwangsik NhoCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Alzheimer's Disease Neuroimaging Initiative

Funding

Project 1U19AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI MICHAEL W WEINER · 2016 to 2026
$226.7M
Peripheral and Central Biomarkers of Alzheimer's Disease in Diverse CohortsU19AG074879 · NIA · MAYO CLINIC JACKSONVILLE · PI Minerva Maria Carrasquillo, NILUFER ERTEKIN-TANER · 2023 to 2026
$42.0M
MVP Data Integration into the ADSP Phenotype Harmonization ConsortiumU24AG074855 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI CUCCARO, MICHAEL L, HOHMAN, TIMOTHY J · 2021 to 2025
$37.5M
Research Education ComponentP30AG010133 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI SAYKIN, ANDREW J · 1991 to 2020
$37.3M
Research Education ComponentP30AG072976 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI ANDREW J SAYKIN · 2021 to 2026
$24.1M
Ultrascale Machine Learning to Empower Discovery in Alzheimers Disease BiobanksU01AG068057 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Christos Davatzikos, Heng Huang · 2020 to 2026
$20.7M
KBASE2: Korean Brain Aging Study, Longitudinal Endophenotypes and Systems BiologyU01AG072177 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI LEE, DONG YOUNG, NHO, KWANGSIK TIMOTHY · 2021 to 2025
$11.2M
Memory Circuitry in MCI and Early Alzheimer’s Disease Prodrome: Molecular DriversR01AG019771 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI SAYKIN, ANDREW J · 2001 to 2021
$6.9M
Leveraging Neuroimaging Biomarkers to Understand the Role of Social Networks in Alzheimer's DiseaseR01AG057739 · NIA · TRUSTEES OF INDIANA UNIVERSITY · PI APOSTOLOVA, LIANA G, PERRY, BREA LOUISE · 2018 to 2022
$3.5M
Cognitive Aging, Alzheimers disease, and Cancer-related Cognitive DeclineR01AG068193 · NIA · GEORGETOWN UNIVERSITY · PI MANDELBLATT, JEANNE, SAYKIN, ANDREW J · 2020 to 2023
$2.8M
Training Grant on Alzheimer's Disease and ADRD at Indiana UniversityT32AG071444 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI GARY E. LANDRETH, Bruce T Lamb · 2021 to 2026
$2.8M
Characterizing the progression of Alzheimer's disease with multi-omic genetic and imaging dataR01AG081951 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI Xiaoqian Wang, Jingwen Yan · 2024 to 2026
$1.9M
Alzheimer's Association AACSFD-24-1310485National Research Foundation of Korea 2020R1C1C1013718National Research Foundation of Korea RS-2024-00461936NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG072976NIA NIH HHS R01 AG019771NIA NIH HHS R01 AG057739NIA NIH HHS R01 AG068193NIA NIH HHS R01 AG081951NIA NIH HHS R01 AG092591NIA NIH HHS T32 AG071444NIA NIH HHS U01 AG068057NIA NIH HHS U01 AG072177NIA NIH HHS U19 AG024904NIA NIH HHS U19 AG074879NIA NIH HHS U24 AG074855NIH HHS P30AG010133NIH HHS P30AG072976NIH HHS R01AG019771NIH HHS R01AG057739NIH HHS R01AG068193NIH HHS R01AG081951NIH HHS R01AG092591NIH HHS R01LM012535NIH HHS R01LM013463NIH HHS T32AG071444NIH HHS U01AG068057NIH HHS U01AG072177NIH HHS U19AG024904NIH HHS U19AG074879NIH HHS U24AG074855NLM NIH HHS R01 LM012535NLM NIH HHS R01 LM013463
6 · The paper itself

Abstract

introductionEarly detection of Alzheimer's disease (AD) is essential, yet existing biomarkers are invasive or costly. Polygenic risk scores (PRS) and transcriptional risk scores (TRS) may offer accessible alternatives, but their combined predictive performance remains understudied.

methodsWe calculated PRS and TRS using genome-wide genotype and blood transcriptome data from two ancestrally distinct cohorts: Alzheimer's Disease Neuroimaging Initiative (ADNI, N = 313) and Seoul National University Bundang Hospital (SNUBH, N = 173). Logistic regression and machine learning models assessed associations of PRS and TRS with AD and AD classification performance.

resultsIndividuals with high PRS and TRS values showed larger odds ratios for AD, 2.5-fold in ADNI and 3.4-fold in SNUBH, compared to those with low PRS and TRS values. The integrated PRS-TRS model achieved better classification performance (area under the curve [AUC] 0.705) than the PRS model (AUC 0.635). DISCUSSION: Integrating static genetic and dynamic transcriptomic information from blood improves early detection of AD across diverse populations.

Indexed as

Alzheimer DiseaseMultifactorial InheritanceTranscriptomeAgedBiomarkersEarly DiagnosisFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHumansMachine LearningMaleBiomarkersAlzheimer's diseaseblood biomarkersearly detectionmachine learningmulti‐omicspolygenic risk scorerisk stratificationtranscriptional risk score

Identifiers

PMID42080296
PMCPMC13137284

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.