ArticleNature communications2024
CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14citing papers in PubMed, 1 pooled it
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cross-ancestry genome-wide association study identifies implications of SORL1 in cerebral beta-amyloid deposition.Nature communications · 2025Pooled it
- A new era of genome-wide association studies in the field of Alzheimer's disease and overlapping co-pathologies: lessons learned from a neuropathology-centered approach.Acta neuropathologica · 2026Review
- Genetic Determinants of Tau-PET Imaging in Alzheimer's Disease: A Narrative Review of Genome-Wide and Candidate-Gene Studies.Journal of imaging · 2026Review
- Contributions of the Alzheimer's Disease Neuroimaging Initiative to advancing AD research: a targeted review of recent publications.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Association analysis and in silico functional predictions of RMDN2 variants in chickens.Animal bioscience · 2026Article
- Systems biology of Alzheimer's Disease: a scoping review of key pathways and mechanisms.Molecular neurodegeneration · 2026Article
- Bioenergetics and lipid metabolism in Alzheimer's disease: From cell biology to systemic health.Journal of internal medicine · 2026Review
- Common and rare variant analyses implicateNPJ dementia · 2026Article
- Mendelian Randomization Reveals Unidirectional Links Between Amyloid-β and Tau in Alzheimer's Disease.Dementia and neurocognitive disorders · 2025Article
- Plasma proteomic Alzheimer's risk score: Biological age clock and pseudotime trajectory.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- The Genetics of Amyloid Deposition: A Systematic Review of Genome-Wide Association Studies Using Amyloid PET Imaging in Alzheimer's Disease.Journal of imaging · 2025Review
- Genome-wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- The Role of Genetic, Environmental, and Dietary Factors in Alzheimer's Disease: A Narrative Review.International journal of molecular sciences · 2025Review
- Article
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Authors and funding
63 authors.
Kwangsik Nho *Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.
Shannon L Risacher *Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0002-3304-7943
Liana G ApostolovaCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.
Paula J BiceCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0001-5357-9966
Jared R BroschIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0002-6578-0584
Rachael DeardorffIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.
Kelley FaberDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0003-3224-2736
Martin R FarlowIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0001-7897-5471
Tatiana ForoudIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0002-5549-2212
Sujuan GaoIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.
Thea RosewoodCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0001-7025-0222
Jun Pyo KimCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0003-4376-3107
Kelly NudelmanIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0003-4040-1717
Meichen YuCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0003-4551-0269
Paul AisenDepartment of Neurology, Keck School of Medicine, University of Southern California, San Diego, USA.
Reisa SperlingDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, USA.ORCID 0000-0003-1535-6133
Basavaraj HooliEli Lilly and Company, Indianapolis, USA.
Sergey ShcherbininEli Lilly and Company, Indianapolis, USA.
Diana SvaldiEli Lilly and Company, Indianapolis, USA.
Clifford R JackDepartment of Radiology, Mayo Clinic, Rochester, USA.ORCID 0000-0001-7916-622X
William J JagustUC Berkeley Helen Wills Neuroscience Institute, University of California - Berkeley, Berkeley, USA.ORCID 0000-0002-4458-113X
Susan LandauUC Berkeley Helen Wills Neuroscience Institute, University of California - Berkeley, Berkeley, USA.
Aparna VasanthakumarGenomics Research Center, AbbVie, North Chicago, USA.ORCID 0000-0003-3857-8812
Jeffrey F WaringGenomics Research Center, AbbVie, North Chicago, USA.
Vincent DoréCSIRO Health and Biosecurity, Melbourne, Australia.ORCID 0000-0002-8051-0558
Simon M LawsCentre for Precision Health, School of Medical and Health Sciences, Edith Cowan University, Joondalup, Australia.ORCID 0000-0002-4355-7082
Colin L MastersFlorey Institute of Neuroscience and Mental Health and The University of Melbourne, Parkville, Australia.
Tenielle PorterCentre for Precision Health, School of Medical and Health Sciences, Edith Cowan University, Joondalup, Australia.ORCID 0000-0002-7887-6622
Christopher C RoweDepartment of Molecular Imaging & Therapy, Austin Health, Heidelberg, Australia.ORCID 0000-0003-3910-2453
Victor L VillemagneDepartment of Molecular Imaging & Therapy, Austin Health, Heidelberg, Australia.
Logan DumitrescuVanderbilt Memory & Alzheimer's Center, Vanderbilt University Medical Center, Nashville, USA.
Timothy J HohmanVanderbilt Memory & Alzheimer's Center, Vanderbilt University Medical Center, Nashville, USA.ORCID 0000-0002-3377-7014
Julia B LibbyVanderbilt Memory & Alzheimer's Center, Vanderbilt University Medical Center, Nashville, USA.
Elizabeth MorminoDepartment of Neurology & Neurological Sciences, Stanford University, Stanford, USA.
Rachel F BuckleyDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, USA.ORCID 0000-0002-5356-5537
Keith JohnsonDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, USA.
Hyun-Sik YangDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, USA.ORCID 0000-0002-8318-0443
Ronald C PetersenDepartment of Neurology, Mayo Clinic, Rochester, USA.ORCID 0000-0002-8178-6601
Vijay K RamananDepartment of Neurology, Mayo Clinic, Rochester, USA.ORCID 0000-0001-6591-8734
Nilüfer Ertekin-TanerDepartment of Neurology, Mayo Clinic, Jacksonville, USA.ORCID 0000-0003-4436-8889
Prashanthi VemuriDepartment of Radiology, Mayo Clinic, Rochester, USA.ORCID 0000-0003-4286-0589
Ann D CohenDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Kang-Hsien FanDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, USA.
M Ilyas KambohDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, USA.ORCID 0000-0002-3453-1438
Oscar L LopezDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, USA.ORCID 0000-0002-8546-8256
David A BennettDepartment of Neurological Sciences, Rush Medical College, Rush University, Chicago, USA.
Muhammad AliDepartment of Psychiatry, Washington University, St. Louis, USA.ORCID 0000-0002-1399-6631
Tammie BenzingerDepartment of Radiology, Washington University School of Medicine, St. Louis, USA.
Carlos CruchagaDepartment of Psychiatry, Washington University, St. Louis, USA.ORCID 0000-0002-0276-2899
Diana HobbsDepartment of Radiology, Washington University School of Medicine, St. Louis, USA.ORCID 0000-0001-7822-6411
Philip L De JagerCenter for Translational and Computational Neuroimmunology, Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, USA.ORCID 0000-0002-8057-2505
Masashi FujitaCenter for Translational and Computational Neuroimmunology, Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, USA.
Vaishnavi JadhavDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.ORCID 0009-0002-1227-9996
Bruce T LambIndiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, USA.ORCID 0000-0001-8507-2561
Andy P TsaiDepartment of Neurology & Neurological Sciences, Stanford University, Stanford, USA.ORCID 0000-0001-6400-544X
Isabel CastanhoDepartment for Clinical and Biomedical Sciences, University of Exeter Medical School, University of Exeter, Exeter, UK.ORCID 0000-0003-1413-626X
Jonathan MillDepartment for Clinical and Biomedical Sciences, University of Exeter Medical School, University of Exeter, Exeter, UK.ORCID 0000-0003-1115-3224
Michael W WeinerDepartments of Radiology, Medicine, and Psychiatry, University of California-San Francisco, San Francisco, USA.
Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Department of Defense Alzheimer’s Disease Neuroimaging Initiative (DoD-ADNI)
Anti-Amyloid Treatment in Asymptomatic Alzheimer’s Study (A4 Study) and Longitudinal Evaluation of Amyloid Risk and Neurodegeneration (LEARN)
Australian Imaging, Biomarker & Lifestyle Study (AIBL)
Andrew J SaykinCenter for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, USA. asaykin@iu.edu.ORCID 0000-0002-1376-8532
Funding
Project 1U19AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI Duygu Tosun-Turgut · 2016 to 2026
$226.7MAlzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MTRIAL OF VALPROATE TO ATTENUATE THE PROGRESSION OF ADU01AG010483 · NIA · UNIVERSITY OF ROCHESTER · PI AISEN, PAUL S. · 1991 to 2012
$116.2MRECRUITMENT COREU19AG010483 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FELDMAN, HOWARD · 2013 to 2020
$80.6MVascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Cuiling Wang · 1985 to 2026
$73.9MSmartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MVascular Moderators of the Impact of Alzheimer's Pathology in the Young-OldP01AG025204 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HOWARD J AIZENSTEIN, Ann D. Cohen · 2005 to 2026
$56.5MVascular factors, physical activity, and inflammation as modulators of neurodegenerative and cognitive trajectories (Project 2)P01AG036694 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI REISA A. SPERLING · 2010 to 2026
$50.2MSUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6MThe natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 2005 to 2025
$49.5MAlzheimer's Association Alzheimer's Association Zenith Fellows AwardDepartment of Defense W81XWH-12-2-0012Department of Defense W81XWH-14-2-0151Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) R01-AG061796Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) U19-AG074879NCATS NIH HHS UL1 TR001108NCRR NIH HHS C06 RR018898NIA NIH HHS K01 AG049050NIA NIH HHS K23 AG062750NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG017216NIA NIH HHS P01 AG025204NIA NIH HHS P01 AG026276NIA NIH HHS P01 AG036694NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG062677NIA NIH HHS P30 AG066444NIA NIH HHS P30 AG066468NIA NIH HHS P30 AG072976NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG011378NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG019771NIA NIH HHS R01 AG023571NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG034570NIA NIH HHS R01 AG034676NIA NIH HHS R01 AG036042NIA NIH HHS R01 AG036836NIA NIH HHS R01 AG039495NIA NIH HHS R01 AG041851NIA NIH HHS R01 AG044546NIA NIH HHS R01 AG048015NIA NIH HHS R01 AG052446NIA NIH HHS R01 AG052521NIA NIH HHS R01 AG056366NIA NIH HHS R01 AG057739NIA NIH HHS R01 AG059716NIA NIH HHS R01 AG061518NIA NIH HHS R01 AG061788NIA NIH HHS R01 AG061796NIA NIH HHS R01 AG062542NIA NIH HHS R01 AG063689NIA NIH HHS R01 AG064877NIA NIH HHS R01 AG068193NIA NIH HHS R01 AG073439NIA NIH HHS R03 AG054936NIA NIH HHS R37 AG011378NIA NIH HHS R37 AG057739NIA NIH HHS R38 AG065762NIA NIH HHS RC2 AG036547NIA NIH HHS RF1 AG052525NIA NIH HHS RF1 AG053303NIA NIH HHS RF1 AG057473NIA NIH HHS RF1 AG058501NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG010483NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG046139NIA NIH HHS U01 AG046152NIA NIH HHS U01 AG046161NIA NIH HHS U01 AG058922NIA NIH HHS U01 AG061356NIA NIH HHS U01 AG068057NIA NIH HHS U01 AG072177NIA NIH HHS U19 AG010483NIA NIH HHS U19 AG024904NIA NIH HHS U19 AG074879NIA NIH HHS U24 AG021886NIGMS NIH HHS P50 GM115318NINDS NIH HHS R01 NS080820NINDS NIH HHS R01 NS097495NINDS NIH HHS U24 NS072026NLM NIH HHS R01 LM011360NLM NIH HHS R01 LM012535NLM NIH HHS R01 LM013463U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01-NS080820Wellcome TrustWellcome Trust WT101650MA
Abstract
Determining the genetic architecture of Alzheimer's disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron emission tomography in 3046 participants from 12 independent studies. The CYP1B1-RMDN2 locus is associated with tau deposition. The most significant signal is at rs2113389, explaining 4.3% of the variation in cortical tau, while APOE4 rs429358 accounts for 3.6%. rs2113389 is associated with higher tau and faster cognitive decline. Additive effects, but no interactions, are observed between rs2113389 and diagnosis, APOE4, and amyloid beta positivity. CYP1B1 expression is upregulated in AD. rs2113389 is associated with higher CYP1B1 expression and methylation levels. Mouse model studies provide additional functional evidence for a relationship between CYP1B1 and tau deposition but not amyloid beta. These results provide insight into the genetic basis of cerebral tau deposition and support novel pathways for therapeutic development in AD.
Indexed as
Alzheimer DiseaseCytochrome P-450 CYP1B1EndophenotypesGenome-Wide Association StudyPositron-Emission Tomographytau ProteinsAgedAged, 80 and overAmyloid beta-PeptidesAnimalsApolipoprotein E4Disease Models, AnimalFemaleHumansMaleMiceAmyloid beta-PeptidesApolipoprotein E4CYP1B1 protein, humanCytochrome P-450 CYP1B1MAPT protein, humantau Proteins
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