Evidence map›Paper›PMID 40542379›Full record

ArticleClinical epigenetics2025

Identification of diagnostic DNA methylation markers in the blood of Japanese Alzheimer's disease patients using methylation capture sequencing.

Risa Mitsumori, Kayoko Sawamura, Kimi Yamakoshi, Akinori Nakamura, Yutaka Arahata, Shumpei Niida, Daichi Shigemizu, Kouichi Ozaki, Nobuyoshi Shimoda

Abstract read
In one paragraph

Article in Clinical epigenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

4 citing papers in PubMed.

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4 · The record

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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

9 authors.

Risa MitsumoriMedical Genome Center, National Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan.
Kayoko SawamuraMedical Genome Center, National Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan.
Kimi YamakoshiMedical Genome Center, National Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan.
Akinori NakamuraCenter for Development of Advanced Medicine for Dementia, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Yutaka ArahataNational Center for Geriatrics and Gerontology, National Hospital for Geriatric Medicine, Obu, Aichi, Japan.
Shumpei NiidaNational Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan.
Daichi ShigemizuMedical Genome Center, National Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan.
Kouichi OzakiMedical Genome Center, National Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan.
Nobuyoshi ShimodaMedical Genome Center, National Center for Geriatrics and Gerontology, Research Institute, Obu, Aichi, Japan. shimoda@ncgg.go.jp.

Funding

National Center for Geriatrics and Gerontology 26-16 and 29-20
6 · The paper itself

Abstract

backgroundMethylation capture sequencing (MC-seq), which relies on next-generation sequencing technology, offers advantages over the widely used array-based approach that Illumina Inc. developed regarding both resolution and comprehensiveness for detecting DNA methylation changes across genomes. In the present study, MC-seq was employed for the first time to identify DNA methylation markers for Alzheimer's disease (AD).

resultsWe compared DNA methylation in the blood of 12 AD patients with brain amyloidosis and 12 cognitively normal elderly Japanese individuals without brain amyloidosis. Candidate methylation differences were validated in the two cohorts using bisulfite amplicon sequencing. Significant differentially methylated regions were identified in the ANKH, MARS, ANKFY1, LINC00908, and KLF2 genes and a slight methylation change in CHRNE (p = 0.061). Furthermore, our AD diagnostic prediction model showed that combining the methylation levels of ANKH and MARS with the APOE genotype provided diagnostic accuracy, achieving AUCs of 0.90 and 0.81 in the discovery and validation datasets, respectively.

conclusionsThe present results suggest the potential of combining these markers for diagnosing AD and support the validity of our approach for identifying disease-related DNA methylation markers using next-generation sequencing.

Indexed as

Alzheimer DiseaseDNA MethylationHigh-Throughput Nucleotide SequencingAgedAged, 80 and overBiomarkersEast Asian PeopleFemaleGenetic MarkersHumansJapanMaleSequence Analysis, DNABiomarkersGenetic Markers

Identifiers

PMID40542379
PMCPMC12181843

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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.