ArticleNeurology. Genetics2018
Association study between multiple system atrophy and TREM2 p.R47H.
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 29% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Pooled it
- Multiple system atrophy: advances in pathogenesis and emerging therapeutic strategies.Journal of neurology · 2025Review
- The genetic basis of multiple system atrophy.Journal of translational medicine · 2023Review
- Inflammation in multiple system atrophy.Frontiers in immunology · 2023Review
- Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.Journal of neurology · 2020Article
- Neuroinflammation and Glial Phenotypic Changes in Alpha-Synucleinopathies.Frontiers in cellular neuroscience · 2019Review
- Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.Frontiers in immunology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 2 countries.
Kotaro OgakiDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Michael G HeckmanDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Shunsuke KogaDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Yuka A MartensDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Catherine LabbéDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Oswaldo Lorenzo-BetancorDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Ronald L WaltonDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Alexandra I SotoDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Emily R VargasDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Shinsuke FujiokaDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Ryan J UittiDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Jay A van GerpenDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
William P CheshireDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Steven G YounkinDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Zbigniew K WszolekDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Phillip A LowDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Wolfgang SingerDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Guojun BuDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Dennis W DicksonDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Owen A RossDepartment of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.
Mayo Clinic in Arizona · USJacksonville College · USMayo Clinic in Florida · USJuntendo University Shizuoka Hospital · JP
Funding
Studies on Diagnosis, Pathophysiology, and Treatment of Autonomic Failure in MSAP01NS044233 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LOW, PHILLIP A · 2003 to 2014
$12.4MTraining CoreU54NS065736 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BIAGGIONI, ITALO · 2009 to 2018
$11.6MNeuropathology CoreP50NS072187 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2010 to 2017
$8.7MMolecular pathobiology of soluble TREM2 in Alzheimer's disease.RF1AG056130 · NIA · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI HUANG, TIMOTHY YIKAI, ZHAO, NA · 2017 to 2023
$6.8MProject 2: Identifying genes and Pathways that impact Tau Toxicity in FTDU54NS100693 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2016 to 2020
$6.2MUnderstanding the role of MAPT in Parkinsonian disordersR01NS078086 · NINDS · MAYO CLINIC JACKSONVILLE · PI ROSS, OWEN A · 2012 to 2016
$1.7MNIA NIH HHS RF1 AG056130NINDS NIH HHS P01 NS044233NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS078086NINDS NIH HHS U54 NS065736NINDS NIH HHS U54 NS100693
Abstract
objectiveThe triggering receptor expressed on myeloid cells 2 (TREM2) p.R47H substitution (rs75932628) is a risk factor for Alzheimer disease (AD) but has not been well studied in relation to the risk of multiple system atrophy (MSA); the aim of this study was to evaluate the association between the TREM2 p.R47H variant and the risk of MSA.
methodsA total of 168 patients with pathologically confirmed MSA, 89 patients with clinically diagnosed MSA, and 1,695 controls were included. TREM2 p.R47H was genotyped and assessed for association with MSA. Positive results in the Taqman genotyping assay were confirmed by Sanger sequencing. The primary comparison involved patients with pathologically confirmed MSA and controls due to the definitive MSA diagnosis in the pathologically confirmed series.
resultsWe identified TREM2 p.R47H in 3 patients with pathologically confirmed MSA (1.79%), 1 patient with clinically diagnosed MSA (1.12%), and 7 controls (0.41%). Minimal AD pathology was observed for the pathologically confirmed MSA p.R47H carriers. For the primary comparison of patients with pathologically confirmed MSA and controls, risk of disease was significantly higher for p.R47H carriers (odds ratio [OR]: 4.39,
conclusionsOur preliminary results suggest that the TREM2 p.R47H substitution may be a risk factor for MSA, implying a link to neuroinflammatory processes, especially microglial activation. Validation of this finding will be important, given our relatively small sample size; meta-analytic approaches will be needed to better define the role of this variant in MSA.
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