ArticleTranslational psychiatry2021
A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.
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Article in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12citing papers in PubMed
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12 citing papers in PubMed, 20 citations in OpenAlex.
- Unraveling the genetic interplay and therapeutic potentials between major depressive disorder and metabolic syndrome: multi-ancestry and multi-trait genome-wide association analyses.BMC psychiatry · 2026Article
- Prioritizing missense mutations via a deep learning phosphorylation prediction model.Human genomics · 2025Article
- Adenylate kinase 5, a novel genetic risk factor for Alzheimer's disease, regulates microglial inflammatory activation.Molecular brain · 2025Article
- Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer's disease and a cumulative effects model for risk liability.Nature communications · 2025Article
- Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- The genetics of falling susceptibility and identification of causal risk factors.Scientific reports · 2023Article
- Characterization of SHARPIN knockout Syrian hamsters developed using CRISPR/Cas9 system.Animal models and experimental medicine · 2023Article
- Machine learning-based quantification for disease uncertainty increases the statistical power of genetic association studies.Bioinformatics (Oxford, England) · 2023Article
- A global view of the genetic basis of Alzheimer disease.Nature reviews. Neurology · 2023Review
- Alzheimer's Disease: An Updated Overview of Its Genetics.International journal of molecular sciences · 2023Review
- Involvement of heterologous ubiquitination including linear ubiquitination in Alzheimer's disease and amyotrophic lateral sclerosis.Frontiers in molecular biosciences · 2023Review
- NF-κB in neurodegenerative diseases: Recent evidence from human genetics.Frontiers in molecular neuroscience · 2022Review
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Authors and funding
34 authors at 12 institutions in 4 countries.
Jun Young ParkGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.ORCID http://orcid.org/0000-0002-9098-2858
Dongsoo LeeDepartment of Public Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, Korea.ORCID http://orcid.org/0000-0002-7057-745X
Jang Jae LeeGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.
Jungsoo GimGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.
Tamil Iniyan GunasekaranGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.ORCID http://orcid.org/0000-0002-8639-5060
Kyu Yeong ChoiGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.
Sarang KangGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.
Ah Ra DoInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea.
Jinyeon JoDepartment of Public Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, Korea.
Juhong ParkDepartment of Public Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, Korea.
Kyungtaek ParkInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea.
Donghe LiInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea.
Sanghun LeeDepartment of medical consilience, Graduate school, Dankook university, Cheonan, Korea.
Hoowon KimGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea.
Immanuel DhanasinghDepartment of Biomedical Science, Chosun University, Gwangju, Korea.
Suparna GhoshDepartment of Biomedical Science, Chosun University, Gwangju, Korea.
Seula KeumDepartment of Life Science, Chung-Ang University, Seoul, Korea.
Jee Hye ChoiDepartment of Life Science, Chung-Ang University, Seoul, Korea.
Gyun Jee SongDepartment of Medical Science, College of Medicine, Catholic Kwandong University, Gangneung, Korea.
Lee SaelDepartment of Software and Computer Engineering, Ajou University, Suwon-si, Korea.
Sangmyung RheeDepartment of Life Science, Chung-Ang University, Seoul, Korea.
Simon LovestoneDepartment of Psychiatry, University of Oxford, Oxford, UK.
Eunae KimCollege of Pharmacy, Chosun University, Gwangju, Korea.
Seung Hwan MoonDepartment of Nuclear Medicine, Samsung Medical Center, Seoul, Korea.
Byeong C KimDepartment of Neurology, Chonnam National University Medical School, Gwangju, Korea.
SangYun KimDepartment of Neurology, Seoul National University College of Medicine and Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, Korea.
Andrew J SaykinIndiana Alzheimer's Disease Research Center and Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-1376-8532
Kwangsik NhoIndiana Alzheimer's Disease Research Center and Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.
Sung Haeng LeeDepartment of Biomedical Science, Chosun University, Gwangju, Korea.
Lindsay A FarrerDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5533-4225
Gyungah R JunDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3230-8697
Sungho WonDepartment of Public Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, Korea. won1@snu.ac.kr.ORCID http://orcid.org/0000-0001-5751-5089
Kun Ho LeeGwangju Alzheimer's & Related Dementia cohort research center, Chosun University, Gwangju, Korea. leekho@chosun.ac.kr.ORCID http://orcid.org/0000-0003-4144-8162
Alzheimer’s Disease Neuroimaging Initiative
Chosun University · KRSeoul National University · KRBoston University · USChung-Ang University · KRIndiana University School of MedicineAjou University · KRCatholic Kwandong University · KRChonnam National University Hospital · KRNational University College · PRSamsung Medical Center · KRSeoul National University Bundang Hospital · KRUniversity of Oxford · GB
Funding
Project 1U19AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI ARTHUR W TOGA · 2016 to 2026
$226.7MAlzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MResearch Education ComponentP30AG010133 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI SAYKIN, ANDREW J · 1991 to 2020
$37.3MNeuropathology CoreP30AG013846 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI KOWALL, NEIL W. · 1996 to 2020
$29.1MResearch Education ComponentP30AG072976 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI ANDREW J SAYKIN · 2021 to 2026
$24.1MGenetic Studies of Alzheimer Disease in KoreansU01AG062602 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI FARRER, LINDSAY A. · 2019 to 2023
$9.5MAlzheimer Disease Genetic Architecture in African AmericansR01AG048927 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Lindsay A. Farrer · 2015 to 2026
$8.4MMemory Circuitry in MCI and Early Alzheimer’s Disease Prodrome: Molecular DriversR01AG019771 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI SAYKIN, ANDREW J · 2001 to 2021
$6.9MGenomic and Biological Studies of APOE ε2 in Alzheimer DiseaseRF1AG057519 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI FARRER, LINDSAY A., JUN, GYUNGAH · 2017 to 2017
$2.4MIntegrating Neuroimaging, Multi-omics, and Clinical Data in Complex DiseaseR01LM012535 · NLM · INDIANA UNIVERSITY INDIANAPOLIS · PI NHO, KWANGSIK TIMOTHY · 2017 to 2021
$1.7MNIA NIH HHS P30 AG010133NIA NIH HHS P30 AG013846NIA NIH HHS P30 AG072976NIA NIH HHS R01 AG019771NIA NIH HHS R01 AG048927NIA NIH HHS RF1 AG057519NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG062602NIA NIH HHS U19 AG024904NLM NIH HHS R01 LM012535
Abstract
Established genetic risk factors for Alzheimer's disease (AD) account for only a portion of AD heritability. The aim of this study was to identify novel associations between genetic variants and AD-specific brain atrophy. We conducted genome-wide association studies for brain magnetic resonance imaging measures of hippocampal volume and entorhinal cortical thickness in 2643 Koreans meeting the clinical criteria for AD (n = 209), mild cognitive impairment (n = 1449) or normal cognition (n = 985). A missense variant, rs77359862 (R274W), in the SHANK-associated RH Domain Interactor (SHARPIN) gene was associated with entorhinal cortical thickness (p = 5.0 × 10
Indexed as
Alzheimer DiseaseCognitive DysfunctionAmyloid beta-PeptidesBrainGenome-Wide Association StudyHumansMagnetic Resonance ImagingNerve Tissue ProteinsUbiquitinsAmyloid beta-PeptidesNerve Tissue ProteinssharpinSHARPIN protein, humanUbiquitins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.