{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T20:27:21Z","timestamp":1791664041817,"version":"4.3.4"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alzheimer's &amp;amp; Dementia"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>INTRODUCTION<\/jats:title>\n                    <jats:p>We aimed to define the genetic architecture and regulatory mechanisms of Alzheimer's disease (AD) \u2010related plasma biomarkers in an East Asian population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>Genome\u2010wide 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\u2010Registries to Overcome and Accelerate Dementia Research (K\u2010ROAD) cohort. Results were integrated with Korean single\u2010nucleus transcriptomics, AD\u2010relevant brain quantitative trait loci resources, and summary\u2010based Mendelian randomization (SMR) and colocalization analyses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      Genome\u2010wide significant loci were identified for all biomarkers, including\n                      <jats:italic>DACT1<\/jats:italic>\n                      \u2013\n                      <jats:italic>DAAM1<\/jats:italic>\n                      (pTau217),\n                      <jats:italic>KCNJ3<\/jats:italic>\n                      (pTau181),\n                      <jats:italic>KLHDC4<\/jats:italic>\n                      (NfL),\n                      <jats:italic>SLC10A7<\/jats:italic>\n                      (GFAP), and\n                      <jats:italic>PPP4R2<\/jats:italic>\n                      (composite score). Strong associations at the apolipoprotein E locus were observed across biomarkers. Integrative analyses implicated\n                      <jats:italic>DACT1<\/jats:italic>\n                      as a key regulatory mediator of pTau217, particularly in oligodendrocytes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DISCUSSION<\/jats:title>\n                    <jats:p>These findings link ancestry\u2010relevant AD biomarker genetics to brain regulatory mechanisms and support integrative causal analyses.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/alz.71275","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T10:01:51Z","timestamp":1773136911000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome\u2010wide association studies"],"prefix":"10.1002","volume":"22","author":[{"given":"Jun Pyo","family":"Kim","sequence":"first","affiliation":[{"name":"Alzheimer's Disease Convergence Research Center Samsung Medical Center  Seoul Republic of Korea"},{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"},{"name":"Neuroscience Center Samsung Medical Center  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minku","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Digital Health Samsung Advanced Institute for Health Sciences and Technology (SAIHST) Sungkyunkwan University, Samsung Medical Center Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minyoung","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Digital Health Samsung Advanced Institute for Health Sciences and Technology (SAIHST) Sungkyunkwan University, Samsung Medical Center Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyunwoo","family":"Lee","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease Convergence Research Center Samsung Medical Center  Seoul Republic of Korea"},{"name":"Department of Health Sciences and Technology Samsung Advanced Institute for Health Sciences and Technology (SAIHST) Sungkyunkwan University, Samsung Medical Center Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang\u2010Hyuk","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Medical Informatics Kangwon National University College of Medicine  Chuncheon Republic of Korea"},{"name":"Interdisciplinary Graduate Program in Medical Bigdata Convergence Kangwon National University  Chuncheon Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soohyun","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Digital Health Samsung Advanced Institute for Health Sciences and Technology (SAIHST) Sungkyunkwan University, Samsung Medical Center Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanhee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Integrated Biomedical and Life Science Korea University  Seoul Republic of Korea"},{"name":"L\u2010HOPE Program for Community\u2010Based Total Learning Health Systems Korea University  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beomjin","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Digital Health Samsung Advanced Institute for Health Sciences and Technology (SAIHST) Sungkyunkwan University, Samsung Medical Center Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daeun","family":"Shin","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease Convergence Research Center Samsung Medical Center  Seoul Republic of Korea"},{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"},{"name":"Neuroscience Center Samsung Medical Center  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heekyoung","family":"Kang","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease Convergence Research Center Samsung Medical Center  Seoul Republic of Korea"},{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"},{"name":"Neuroscience Center Samsung Medical Center  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohyun","family":"Yim","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease Convergence Research Center Samsung Medical Center  Seoul Republic of Korea"},{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"},{"name":"Neuroscience Center Samsung Medical Center  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyemin","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Neurology Seoul National University Hospital Seoul National University, College of Medicine  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo\u2010Hyun","family":"Kim","sequence":"additional","affiliation":[{"name":"Alzheimer's Disease Convergence Research Center Samsung Medical Center  Seoul Republic of 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Korea"},{"name":"Neuroscience Center Samsung Medical Center  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joon\u2010Yong","family":"An","sequence":"additional","affiliation":[{"name":"Department of Integrated Biomedical and Life Science Korea University  Seoul Republic of Korea"},{"name":"L\u2010HOPE Program for Community\u2010Based Total Learning Health Systems Korea University  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Zetterberg","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology the Sahlgrenska Academy at the University of Gothenburg  G\u00f6teborg Sweden"},{"name":"Clinical Neurochemistry Laboratory Sahlgrenska University Hospital  G\u00f6teborg Sweden"},{"name":"Department of Neurodegenerative Disease UCL Institute of Neurology, Queen Square  London UK"},{"name":"UK Dementia Research Institute at UCL  London UK"},{"name":"Hong Kong Center for Neurodegenerative Diseases Clear Water Bay  Hong Kong P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaj","family":"Blennow","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology the Sahlgrenska Academy at the University of Gothenburg  G\u00f6teborg Sweden"},{"name":"Clinical Neurochemistry Laboratory Sahlgrenska University Hospital  G\u00f6teborg Sweden"},{"name":"Paris Brain Institute, ICM Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Sorbonne University  Paris France"},{"name":"Neurodegenerative Disorder Research Center, Division of Life Sciences and Medicine, and Department of Neurology, Institute on Aging and Brain Disorders University of Science and Technology of China and First Affiliated Hospital of USTC  Hefei P.R. 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