ArticleActa neuropathologica2020
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
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Article in Acta neuropathologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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61citing papers in PubMed, 1 pooled it
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Genetic Variants Associated With Resilience in Human and Animal Studies.Frontiers in psychiatry · 2022Pooled it
- Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation.bioRxiv : the preprint server for biology · 2026Article
- Genetic correlation analysis identifies TMEM106B, ACE, and ERC2 as genetic loci shared between Alzheimer's disease and primary psychiatric disorders.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.Annals of neurology · 2026Review
- The role of endolysosomal progranulin and TMEM106B in neurodegenerative diseases.Molecular neurodegeneration · 2025Review
- TMEM106B Supports Viral Entry and Syncytia Formation Mediated by the Spike Proteins From Omicron BA.2.86 and JN.1.Journal of medical virology · 2025Article
- Protective genetic variants against Alzheimer's disease.The Lancet. Neurology · 2025Review
- Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health.Molecular neurodegeneration · 2025Article
- The roles and functions of TMEM protein family members in cancers, cardiovascular and kidney diseases (Review).Biomedical reports · 2025Review
- Molecular Therapeutics in Development to Treat Alzheimer's Disease.Molecular diagnosis & therapy · 2025Review
- Risk and progression of frontotemporal dementia in carriers of the TMEM106B protective genotype and its relationship with TDP-43 pathology.Annals of translational medicine · 2024Article
- Gene-Specific Effects on Brain Volume and Cognition ofNeurology · 2024Article
- Cognitive resilience to Alzheimer's disease characterized by cell-type abundance.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Publication trends and research hotspots of IL-1: A bibliometric analysis of IL-1 with relevance to anesthesia in highly cited papers from WoSCC.Journal of anesthesia and translational medicine · 2024Article
- Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center.Scientific data · 2024Article
- Cleaved TMEM106B forms amyloid aggregates in central and peripheral nervous systems.Acta neuropathologica communications · 2024Article
- TMEM106B C-terminal fragments aggregate and drive neurodegenerative proteinopathy.bioRxiv : the preprint server for biology · 2024Article
- Brain cell-type shifts in Alzheimer's disease, autism, and schizophrenia interrogated using methylomics and genetics.Science advances · 2024Article
- Physiological and pathological functions of TMEM106B in neurodegenerative diseases.Cellular and molecular life sciences : CMLS · 2024Review
- Gene specific effects on brain volume and cognition ofmedRxiv : the preprint server for health sciences · 2024Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 4 institutions in 2 countries.
Zeran LiDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-7434-6499
Fabiana H G FariasDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-5215-7304
Umber DubeDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0001-9324-1927
Jorge L Del-AguilaDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-6364-8707
Kathie A MihindukulasuriyaDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0001-9372-3758
Maria Victoria FernandezDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-9669-5147
Laura IbanezDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0003-2381-7059
John P BuddeDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0001-7778-7276
Fengxian WangDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Allison M LakeVanderbilt University Medical Scientist Training Program, Nashville, TN, USA.ORCID 0000-0003-2562-4226
Yuetiva DemingDepartment of Medicine, University of Wisconsin-Madison, Madison, WI, USA.ORCID 0000-0001-7512-5703
James PerezDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Chengran YangDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0003-4577-5590
Jorge A BahenaDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Wei QinDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Joseph L BradleyDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Richard DavenportDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Kristy BergmannDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
John C MorrisDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.
Richard J PerrinDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-3443-7716
Bruno A BenitezDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-2699-3878
Joseph D DoughertyDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-6385-3997
Oscar HarariDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA.ORCID 0000-0002-2635-6975
Carlos CruchagaDepartment of Psychiatry, BJC Institute of Heath, Washington University School of Medicine, 425 S. Euclid Ave., Box 8134, St. Louis, MO, 63110, USA. ccruchaga@wustl.edu.ORCID 0000-0002-0276-2899
Washington University in St. Louis · USCapital Medical University · CNUniversity of Wisconsin–Madison · USVanderbilt University · US
Funding
Vascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI CAROL A. DERBY · 1985 to 2026
$73.9MSmartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5MImaging CoreU19AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2010 to 2025
$53.9MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1MSUPPLEMENT 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
$49.5MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI PETERSEN, RONALD C · 1999 to 2018
$36.9MResearch Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI REIMAN, ERIC MICHAEL · 2001 to 2020
$32.5MResearch Education ComponentP30AG066444 · NIA · WASHINGTON UNIVERSITY · PI DAVID M. HOLTZMAN · 2020 to 2026
$28.7MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3MIntegrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, FUNK, CORY · 2013 to 2022
$24.6MDominantly Inherited Alzheimer NetworkUF1AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2014 to 2017
$21.6MAlzheimer's Association AARG-16-441560Alzheimer's Association BAND-14-338165Alzheimer's Association BFG-15-362540Alzheimer's Association NIRG-11-200110NHLBI NIH HHS R01 HL119813NIA NIH HHS K01 AG046374NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG017216NIA NIH HHS P01 AG026276NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG066444NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG015801NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG044546NIA NIH HHS R01 AG057777NIA NIH HHS R01 AG058501NIA NIH HHS R01 AG064877NIA NIH HHS R56 AG064877NIA NIH HHS RF1 AG044546NIA NIH HHS RF1 AG053303NIA NIH HHS RF1 AG058501NIA NIH HHS T32 AG000213NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG032438NIA NIH HHS U01 AG046139NIA NIH HHS U01 AG052411NIA NIH HHS U01 AG058922NIA NIH HHS U19 AG032438NIA NIH HHS UF1 AG032438NIGMS NIH HHS T32 GM007347NINDS NIH HHS R01 NS080820NINDS NIH HHS U24 NS072026
Abstract
Apart from amyloid β deposition and tau neurofibrillary tangles, Alzheimer's disease (AD) is a neurodegenerative disorder characterized by neuronal loss and astrocytosis in the cerebral cortex. The goal of this study is to investigate genetic factors associated with the neuronal proportion in health and disease. To identify cell-autonomous genetic variants associated with neuronal proportion in cortical tissues, we inferred cellular population structure from bulk RNA-Seq derived from 1536 individuals. We identified the variant rs1990621 located in the TMEM106B gene region as significantly associated with neuronal proportion (p value = 6.40 × 10
Indexed as
BrainNeuronsAgedAged, 80 and overAgingFemaleGenetic Predisposition to DiseaseHumansMaleMembrane ProteinsNerve Tissue ProteinsNeurodegenerative DiseasesPolymorphism, Single NucleotideMembrane ProteinsNerve Tissue ProteinsTMEM106B protein, humanComplex traitsCortexDeconvolutionGWASNeurodegenerationQTL
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