Exploring novel blood-based DNA methylation biomarkers for alzheimer's disease via targeted sequencing of highly variable CpG sites.

Hideki Ohmomo, Shohei Komaki, Shiori Minabe, Yoichi Sutoh, Yayoi Otsuka-Yamasaki, Makoto Sasaki, Atsushi Shimizu

Abstract read

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Article in BMC research notes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

7 authors.

Hideki OhmomoDivision of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan.

Shohei KomakiDivision of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan.

Shiori MinabeDivision of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan.

Yoichi SutohDivision of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan.

Yayoi Otsuka-YamasakiDivision of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan.

Makoto SasakiDisaster Reconstruction Center, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan.

Atsushi ShimizuDivision of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 1-1-1 Idaidori, Yahaba, 028-3694, Shiwa, Iwate, Japan. ashimizu@iwate-med.ac.jp.

Funding

Grant-in-Aid for Scientific Research (B) 20H03934

6 · The paper itself

Abstract

objectiveDementia, particularly Alzheimer’s disease (AD), continues to be a major public health concern due to population aging, yet minimally invasive biomarkers for early diagnosis have not been established. DNA methylation (DNAm) has recently attracted considerable attention as a promising biomarker. This study aimed to identify blood-based DNAm biomarkers for early detection of AD.

resultsWe analysed blood-derived DNA from 48 patients with AD (from Biobank Japan) and 48 age- and sex-matched controls (from the Tohoku Medical Megabank Biobank) using Apolipoprotein ε type 4 (APOE)-associated genotype analysis and targeted-bisulfite sequencing. High-risk APOE genotypes were more frequent in AD patients (23/48, [47.9%]) than in controls (6/48, [12.5%]). A typical case-control and APOE genotype-stratified epigenome-wide association study (EWAS) did not identify any genome-wide significant CpG sites. Although the primary findings were negative, some top CpG sites appeared in both analyses, including loci on the Cell Adhesion Molecule 1 (CADM1), Tubulin alpha 1b (TUBA1B), and Exocyst complex component 2 (EXOC2) genes, which have previously been linked to AD-related pathways. The relatively early clinical stage and uncertainty of disease onset might have limited detection sensitivity. Longitudinal studies with refined staging and multi-omics integration might clarify the biomarker potential of blood DNAm in AD.

Indexed as

Alzheimer DiseaseCpG IslandsDNA MethylationAgedAged, 80 and overApolipoproteins EBiomarkersCase-Control StudiesCell Adhesion MoleculesFemaleGenome-Wide Association StudyGenotypeHumansMaleSequence Analysis, DNATubulinApolipoproteins EBiomarkersCell Adhesion MoleculesTubulinAlzheimer’s diseaseAPOE genotypingDNA methylation biomarkersEpigenome-wide association studyTargeted-bisulphite sequencing

Identifiers

PMID40796861

DOI10.1186/s13104-025-07417-7

PMCPMC12341124

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