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In the present study, MC-seq was employed for the first time to identify DNA methylation markers for Alzheimer\u2019s disease (AD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We 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\n                      <jats:italic>ANKH<\/jats:italic>\n                      ,\n                      <jats:italic>MARS<\/jats:italic>\n                      ,\n                      <jats:italic>ANKFY1<\/jats:italic>\n                      ,\n                      <jats:italic>LINC00908<\/jats:italic>\n                      , and\n                      <jats:italic>KLF2<\/jats:italic>\n                      genes and a slight methylation change in\n                      <jats:italic>CHRNE<\/jats:italic>\n                      (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.061). Furthermore, our AD diagnostic prediction model showed that combining the methylation levels of\n                      <jats:italic>ANKH<\/jats:italic>\n                      and\n                      <jats:italic>MARS<\/jats:italic>\n                      with the\n                      <jats:italic>APOE<\/jats:italic>\n                      genotype provided diagnostic accuracy, achieving AUCs of 0.90 and 0.81 in the discovery and validation datasets, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13148-025-01905-0","type":"journal-article","created":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T14:54:55Z","timestamp":1750431295000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of diagnostic DNA methylation markers in the blood of Japanese Alzheimer\u2019s disease patients using methylation capture sequencing"],"prefix":"10.1186","volume":"17","author":[{"given":"Risa","family":"Mitsumori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Sawamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimi","family":"Yamakoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinori","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Arahata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shumpei","family":"Niida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daichi","family":"Shigemizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kouichi","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyoshi","family":"Shimoda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,20]]},"reference":[{"key":"1905_CR1","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s13148-018-0455-6","volume":"10","author":"K Groen","year":"2018","unstructured":"Groen K, Lea RA, Maltby VE, Scott RJ, Lechner-Scott J. 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J Med Genet. 2020;57(5):331\u20138.","journal-title":"J Med Genet"}],"container-title":["Clinical Epigenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13148-025-01905-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13148-025-01905-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13148-025-01905-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T16:02:50Z","timestamp":1771344170000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13148-025-01905-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,20]]},"references-count":51,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1905"],"URL":"https:\/\/doi.org\/10.1186\/s13148-025-01905-0","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-6200381\/v1","asserted-by":"object"}]},"ISSN":["1868-7083"],"issn-type":[{"value":"1868-7083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,20]]},"assertion":[{"value":"11 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The present study was conducted with the approval of the Ethical Committee of NCGG (708-8 and 521-4). The design and performance of the present study involving human subjects were clearly described in a research proposal. All participants were voluntary and completed informed consent in writing before registering at the NCGG Biobank, which collects human biomaterials and data for geriatrics research. All DNA and associated information used in this study were obtained from the NCGG Biobank (H27013(2)). For those with substantial cognitive impairment, written informed consent was obtained from the legal next of kin, which the local Ethics Committee had previously approved.","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":"107"}}