Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Open accessAbstract
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.
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CBD cases have a greater OR estimate at MOBP compared with PSP (MAFCBD=0.40; OR=1.71; MAFPSP=0.36; OR=1.39).
“In support of the MOBP locus being a shared genetic risk factor between CBD and PSP, CBD cases have an even greater OR estimate compared with PSP (MAFCBD=0.40; OR=1.71; MAFPSP=0.36; OR=1.39; ref. 17).”
From Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) · cites this paper as [17]
The paper’s Abstract reports a significant association between MOBP and PSP risk. Our copy does not report MOBP results for CBD or the cited allele frequencies and odds ratios, so it does not support the claimed CBD–PSP comparison (searched: CBD, corticobasal degeneration, and the stated estimates). (LLM, conf=0.83)
Experimental — accuracy not yet measuredSNPs within the H1 haplotype of the MAPT locus are associated with increased risk for CBD, PSP, and FTD.
“Recent genome-wide association studies (GWAS) have shown that single nucleotide polymorphisms (SNPs) within the H1 haplotype of the MAPT locus are associated with increased risk for CBD, PSP, and FTD [20, 24, 32].”
From Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia (2017) · cites this paper as [20]
The MAPT-region passage (section labelled Abstract; page unavailable) reports that PSP-associated SNPs map to the H1/H2 haplotypes and that H1 confers increased PSP risk. The paper also says H1 contributes to corticobasal degeneration risk, but the passages do not support the sentence’s FTD association. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe first PSP GWAS discovered three non-MAPT susceptibility loci at STX6, EIF2AK3, and MOBP.
“Recently, the first PSP GWAS17 discovered three non-MAPT susceptibility loci at STX6, EIF2AK3, and MOBP, raising the possibility that additional non-MAPT genetic risk factors or modifiers may also exist for CBD.”
From Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) · cites this paper as [17]
Genetic tau data for PSP suggests that tau is, at least partially, causative in these disorders rather than solely a pathologic hallmark.
“However, genetic tau data for PSP suggests that tau is, at least partially, causative in these disorders rather than solely a pathologic hallmark (40).”
From Tau reduction prevents neuronal loss and reverses pathological tau deposition and seeding in mice with tauopathy (2017) · cites this paper as [40]
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- Authors
- PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., Riley, D. E., van Swieten, J. C., Heutink, P., Wszolek, Z. K., Uitti, R. J., Vandrovcova, J., Hurtig, H. I., Gross, R. G., Maetzler, W., Goldwurm, S., Tolosa, E., Borroni, B., Pastor, P., Cantwell, L. B., Han, M. R., Dillman, A., van der Brug, M. P., Gibbs, J. R., Cookson, M. R., Hernandez, D. G., Singleton, A. B., Farrer, M. J., Yu, C.-E., Golbe, L. I., Revesz, T., Hardy, J., Lees, A. J., Devlin, B., Hakonarson, H., Müller, U., & Schellenberg, G. D.
- Affiliations
- Philipps University of Marburg (DE)
- Mayo Clinic (US)
- University of Pittsburgh (US)
- University of Louisville (US)
- University Hospitals of Cleveland (US)
- University of Pennsylvania Health System (US)
- Hertie Institute for Clinical Brain Research (DE)
- German Center for Neurodegenerative Diseases (DE)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- Instituto de Salud Carlos III (ES)
- University of Pennsylvania (US)
- National Institutes of Health (US)
- Scripps Research Institute (US)
- University of British Columbia (CA)
- University of Washington (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Children's Hospital of Philadelphia (US)
- Justus-Liebig-Universität Gießen (DE)
- Corresponding author
- Müller, Ulrich
- Schellenberg, Gerard D
- ORCID
- Höglinger, Günter U
- Melhem, Nadine M
- Dickson, Dennis W
- Klei, Lambertus
- Rademakers, Rosa
- Litvan, Irene
- Heutink, Peter
- Uitti, Ryan J
- Maetzler, Walter
- Goldwurm, Stefano
- Tolosa, Eduardo
- Borroni, Barbara
- Dillman, Allissa
- Gibbs, J Raphael
- Cookson, Mark R
- Hernandez, Dena G
- Singleton, Andrew B
- Farrer, Matthew J
- Yu, Chang-En
- Golbe, Lawrence I
- Hardy, John
- Lees, Andrew J
- Devlin, Bernie
- Hakonarson, Hakon
- Müller, Ulrich
- Schellenberg, Gerard D
- Venue
- Nature Genetics
- Published
- 2011-06-19
- Volume
- 43
- Issue
- 7
- Pages
- 699-705
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3125476
- OpenAlex
- W2050252352
- Cited by
- 603
- References
- 47
- Citations by year
- 2026: 22 · 2025: 34 · 2024: 56 · 2023: 33 · 2022: 49 · 2021: 43 · 2020: 46 · 2019: 41 · 2018: 44 · 2017: 51 · 2016: 37 · 2015: 41 · 2014: 29 · 2013: 34 · 2012: 31
- FWCI
- 21.10
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- DZNE Pub (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- CurePSP
- Wellcome Trust (081864)
- National Institutes of Health (5rc2ns070276-02)
- Medical Research Council (MC_G1000734)
- National Institute on Aging (P01AG017586, R37AG011762, P01AG017216)
- National Institute of Mental Health (K01MH077930, R37MH057881, MH077930, R01MH057881, MH057881)
- National Human Genome Research Institute (U01HG004608, U01HG004438, U01HG004603)
- National Institute of General Medical Sciences
- National Institute of Neurological Disorders and Stroke (RC2-NS070276, NS057567, 1RC2-NS070276, R01NS057567, P50NS038377, P50NS072187)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Neurological disorders and treatments
- Keywords
- progressive supranuclear palsy, tauopathy, genetic susceptibility loci, MAPT, syntaxin 6, PERK, MOBP, vesicle fusion, unfolded protein response, myelin, movement disorders, genome-wide association study
- MeSH terms
- Chromosomes, Human, Humans, Prognosis, Risk Factors, Supranuclear Palsy, Progressive, Genetic Variation, Cohort Studies, Case-Control Studies, tau Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Tauopathies, Genome-Wide Association Study, Genetic Loci
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