{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:51:07Z","timestamp":1785372667817,"version":"3.55.0"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Grant-in-Aid for Scientific Research","award":["20H03934"],"award-info":[{"award-number":["20H03934"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Res Notes"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Dementia, particularly Alzheimer\u2019s 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We 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 \u03b5 type 4 (\n                      <jats:italic>APOE<\/jats:italic>\n                      )-associated genotype analysis and targeted-bisulfite sequencing. High-risk\n                      <jats:italic>APOE<\/jats:italic>\n                      genotypes were more frequent in AD patients (23\/48, [47.9%]) than in controls (6\/48, [12.5%]). A typical case-control and\n                      <jats:italic>APOE<\/jats:italic>\n                      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 (\n                      <jats:italic>CADM1<\/jats:italic>\n                      ), Tubulin alpha 1b (\n                      <jats:italic>TUBA1B<\/jats:italic>\n                      ), and Exocyst complex component 2 (\n                      <jats:italic>EXOC2<\/jats:italic>\n                      ) 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.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13104-025-07417-7","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T10:30:29Z","timestamp":1754994629000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exploring novel blood-based DNA methylation biomarkers for alzheimer\u2019s disease via targeted sequencing of highly variable CpG sites"],"prefix":"10.1186","volume":"18","author":[{"given":"Hideki","family":"Ohmomo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shohei","family":"Komaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiori","family":"Minabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Sutoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yayoi","family":"Otsuka-Yamasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,8,12]]},"reference":[{"key":"7417_CR1","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1016\/S0006-291X(84)80190-4","volume":"120","author":"GG Glenner","year":"1984","unstructured":"Glenner GG, Wong CW. 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We explained the research to the AD patients themselves and obtained their written informed consent. However, in cases where obtaining consent directly from the patient was difficult, proxy consent was obtained from one of the following individuals: the patient\u2019s spouse, adult children, parents, competent adult siblings, adult grandchildren, grandparents, or legal guardians. Written informed consent was also obtained from all healthy controls.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"350"}}