Evidence map›Paper›PMID 41804841›Full record

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

Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies.

Jun Pyo Kim, Minku Song, Minyoung Cho, Hyunwoo Lee, Sang-Hyuk Jung, Soohyun Lim, Chanhee Kim, Beomjin Jang, Daeun Shin, Heekyoung Kang and 13 more

Abstract read
PubMed Full text at PMC Publisher
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 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

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

1 citing paper in PubMed.

  1. Review
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

23 authors.

Jun Pyo KimAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Minku SongDepartment of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Minyoung ChoDepartment of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Hyunwoo LeeAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Sang-Hyuk JungDepartment of Medical Informatics, Kangwon National University College of Medicine, Chuncheon, Republic of Korea.
Soohyun LimDepartment of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Chanhee KimDepartment of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.
Beomjin JangDepartment of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Daeun ShinAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Heekyoung KangAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Sohyun YimAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Hyemin JangDepartment of Neurology, Seoul National University Hospital, Seoul National University, College of Medicine, Seoul, Republic of Korea.
Bo-Hyun KimAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Hee Jin KimAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Duk L NaAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Joon-Yong AnDepartment of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.
Henrik ZetterbergDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden.
Kaj BlennowDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden.
Fernando Gonzalez-OrtizDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden.
Nicholas J AshtonDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden.
Theresa A DayEli Lilly and Company, Lilly Corporate Center, Indianapolis, Indiana, USA.
Sang Won SeoAlzheimer's Disease Convergence Research Center, Samsung Medical Center, Seoul, Republic of Korea.
Hong-Hee WonDepartment of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.ORCID 0000-0001-5719-0552

Funding

Korea Dementia Research Project through the Korea Dementia Research Center (KDRC) RS-2020-KH106434Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) RS-2025-02223212Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) RS-2025-25455095Korea National Institute of Health 2023-ER1001-03Korea National Institute of Health 2024-ER1003-02Korea National Institute of Health 2025-ER1003-00Ministry of SMEs and Startups (MSS) RS-2025-25466827National Research Foundation of Korea (NRF) 2019-NR040057National Research Foundation of Korea (NRF) RS-2023-00247408National Research Foundation of Korea (NRF) RS-2023-00262527
6 · The paper itself

Abstract

introductionWe aimed to define the genetic architecture and regulatory mechanisms of Alzheimer's disease (AD) -related plasma biomarkers in an East Asian population.

methodsGenome-wide association studies (GWAS) of plasma phosphorylated tau at threonine 217 (pTau217), pTau181, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) were performed in 1,972 individuals from the Korea-Registries to Overcome and Accelerate Dementia Research (K-ROAD) cohort. Results were integrated with Korean single-nucleus transcriptomics, AD-relevant brain quantitative trait loci resources, and summary-based Mendelian randomization (SMR) and colocalization analyses.

resultsGenome-wide significant loci were identified for all biomarkers, including DACT1-DAAM1 (pTau217), KCNJ3 (pTau181), KLHDC4 (NfL), SLC10A7 (GFAP), and PPP4R2 (composite score). Strong associations at the apolipoprotein E locus were observed across biomarkers. Integrative analyses implicated DACT1 as a key regulatory mediator of pTau217, particularly in oligodendrocytes. DISCUSSION: These findings link ancestry-relevant AD biomarker genetics to brain regulatory mechanisms and support integrative causal analyses.

Indexed as

Alzheimer Diseasetau ProteinsAgedBiomarkersFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGlial Fibrillary Acidic ProteinHumansMaleNeurofilament ProteinsPolymorphism, Single NucleotideQuantitative Trait LociRepublic of KoreaBiomarkersGlial Fibrillary Acidic Proteinneurofilament protein LNeurofilament Proteinstau ProteinsAlzheimer's diseasegenome‐wide association studyphosphorylated tau 217plasma biomarkerssingle‐nucleus transcriptomics

Identifiers

PMID41804841
PMCPMC12973132

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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.