Evidence map›Paper›PMID 38464214›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and

Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Ya-Qin Si, Albert Tucci, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean and 54 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Review
4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

64 authors at 20 institutions in 11 countries.

Hui WangDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0003-4043-5060
Timothy S ChangMovement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-9225-9874
Beth A DombroskiDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Po-Liang ChengDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ya-Qin SiBioinformatics Research Center, North Carolina State University, NC, USA.
Albert TucciBioinformatics Research Center, North Carolina State University, NC, USA.
Vishakha PatilMovement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Leopoldo Valiente-BanuetMovement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Kurt FarrellDepartment of Pathology, Department of Artificial Intelligence & Human Health, Nash Family, Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain, Institute, Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Catriona McleanVictorian Brain Bank, The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.
Laura Molina-PorcelAlzheimer's disease and other cognitive disorders unit. Neurology Service, Hospital Clínic, Fundació Recerca Clínic Barcelona (FRCB). Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.
Rajput AlexMovement Disorders Program, Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
Peter Paul De DeynLaboratory of Neurochemistry and Behavior, Experimental Neurobiology Unit, University of Antwerp, Wilrijk (Antwerp), Belgium.ORCID 0000-0002-2228-2964
Nathalie Le BastardFujirebio Europe NV, Technologiepark 6, 9052 Gent, Belgium.ORCID 0000-0002-7981-2866
Marla GearingDepartment of Pathology and Laboratory Medicine and Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Laura Donker KaatNetherlands Brain Bank and Erasmus University, Netherlands.
John C Van SwietenNetherlands Brain Bank and Erasmus University, Netherlands.
Elise DopperNetherlands Brain Bank and Erasmus University, Netherlands.
Bernardino F GhettiDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID 0000-0002-1842-8019
Kathy L NewellDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID 0000-0002-1648-7357
Claire TroakesLondon Neurodegenerative Diseases Brain Bank, King's College London, London, UK.ORCID 0000-0002-1790-7376
Justo G de YébenesAutonomous University of Madrid, Madrid, Spain.
Alberto Rábano-GutierrezFundación CIEN (Centro de Investigación de Enfermedades Neurológicas) - Centro Alzheimer Fundación Reina Sofía, Madrid, Spain.
Tina MellerDepartment of Neurology, Philipps-Universität, Marburg, Germany.
Wolfgang H OertelDepartment of Neurology, Philipps-Universität, Marburg, Germany.ORCID 0000-0002-7582-8166
Gesine RespondekGerman Center for Neurodegenerative Diseases (DZNE), Munich, Germany.ORCID 0000-0002-6851-6164
Maria StamelouParkinson's disease and Movement Disorders Department, HYGEIA Hospital, Athens, Greece.
Thomas ArzbergerDepartment of Psychiatry and Psychotherapy, University Hospital Munich, Ludwig-Maximilians-University Munich, Germany.
Sigrun RoeberGerman Brain Bank, Neurobiobank Munich, Germany.
Ulrich MüllerGerman Brain Bank, Neurobiobank Munich, Germany.
Franziska HopfnerDepartment of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Pau PastorUnit of Neurodegenerative diseases, Department of Neurology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.ORCID 0000-0002-7493-8777
Alexis BriceSorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, APHP - Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-0941-3990
Alexandra DurrSorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, APHP - Hôpital Pitié-Salpêtrière, Paris, France.
Isabelle Le BerSorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, APHP - Hôpital Pitié-Salpêtrière, Paris, France.
Thomas G BeachBanner Sun Health Research Institute, Sun City, AZ, USA.
Geidy E SerranoBanner Sun Health Research Institute, Sun City, AZ, USA.
Lili-Naz HazratiUniversity McGill, Montreal, Quebec, Canada.
Irene LitvanDepartment of Neuroscience, University of California, San Diego, CA, USA.ORCID 0000-0002-3485-3445
Rosa RademakersVIB Center for Molecular Neurology, University of Antwerp, Belgium.
Owen A RossDepartment of Neuroscience, Mayo Clinic Jacksonville, FL, USA.
Douglas GalaskoDepartment of Neuroscience, University of California, San Diego, CA, USA.
Adam L BoxerMemory and Aging Center, University of California, San Francisco, CA, USA.
Bruce L MillerMemory and Aging Center, University of California, San Francisco, CA, USA.ORCID 0000-0002-2152-4220
Willian W SeeleyMemory and Aging Center, University of California, San Francisco, CA, USA.
Vivianna M Van DeerlinDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-7400-9097
Edward B LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Charles L WhiteUniversity of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID 0000-0002-3870-2804
Huw R MorrisDepartmento of Clinical and Movement Neuroscience, University College of London, London, UK.ORCID 0000-0002-5473-3774
Rohan de SilvaReta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-5052-5775
John F CraryDepartment of Pathology, Department of Artificial Intelligence & Human Health, Nash Family, Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain, Institute, Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alison M GoateDepartment of Genetics and Genomic Sciences, New York, NY, USA; Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-0576-2472
Jeffrey S FriedmanFriedman Bioventure, Inc., Del Mar, CA, USA: Department of Genetics and Genomic Sciences, New York, NY, USA.
Yuk Yee LeungDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-3047-5440
Giovanni CoppolaMovement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Adam C NajDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Li-San WangDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
PSP genetics study group
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic Jacksonville, FL, USA.
Günter U HöglingerDepartment of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Jung-Ying TzengBioinformatics Research Center, North Carolina State University, NC, USA.
Daniel H GeschwindMovement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Wan-Ping LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-5305-1181
University of Pennsylvania · USUniversity of California, Los Angeles · USNorth Carolina State University · USCentre National de la Recherche Scientifique · FRGerman Center for Neurodegenerative Diseases · DEHersenstichting · NLUniversity of California, San Francisco · USAllen Institute for Brain Science · USBanner Sun Health Research Institute · USDeutsche Bank (Germany) · DEIndiana University School of MedicineMayo Clinic in Florida · USPhilipps University of Marburg · DEUniversity of California San Diego · USBanc de Sang i Teixits · ESEmory University · USEuropean University Cyprus · CYFlorey Institute of Neuroscience and Mental Health · AUFujirebio (Belgium) · BEFundacion Centro De Investigacion De Enfermedades Neurologicas · ES

Funding

Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · PI KEJAL KANTARCI · 2019 to 2026
$120.9M
Vascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Richard B. LIPTON · 1985 to 2026
$73.9M
TDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2M
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
SUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6M
THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3M
Transgenic Mouse Models of Tau PathologiesP01AG017586 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, VIRGINIA M · 2000 to 2021
$37.3M
THE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI PETERSEN, RONALD C · 1999 to 2018
$36.9M
UCSD Shiley-Marcos Alzheimer's Disease Research Center P30P30AG062429 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DOUGLAS R GALASKO · 2019 to 2026
$34.9M
Genome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID, WANG, LI-SAN · 2016 to 2025
$32.8M
Research Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI REIMAN, ERIC MICHAEL · 2001 to 2020
$32.5M
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Margaret Sewell · 2020 to 2026
$31.0M
NIA NIH HHS K01 AG070326NIA NIH HHS K08 AG065519NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG017216NIA NIH HHS P01 AG017586NIA NIH HHS P01 AG019724NIA NIH HHS P01 AG066597NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG062429NIA NIH HHS P30 AG066511NIA NIH HHS P30 AG066514NIA NIH HHS P30 AG072976NIA NIH HHS P30 AG072979NIA NIH HHS P30 AG072980NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG038791NIA NIH HHS R01 AG054008NIA NIH HHS R01 AG057234NIA NIH HHS R01 AG062348NIA NIH HHS R01 AG071756NIA NIH HHS R01 AG073482NIA NIH HHS R01 AG080001NIA NIH HHS RF1 AG060961NIA NIH HHS RF1 AG062348NIA NIH HHS RF1 AG074328NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG046139NIA NIH HHS U19 AG063911NIA NIH HHS U24 AG041689NIA NIH HHS U54 AG052427NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS080820NINDS NIH HHS R01 NS086736NINDS NIH HHS R01 NS095252NINDS NIH HHS R21 NS114764NINDS NIH HHS R25 NS098999NINDS NIH HHS U01 NS100610NINDS NIH HHS U24 NS072026NINDS NIH HHS U54 NS100693NINDS NIH HHS U54 NS123746NINDS NIH HHS UG3 NS104095NINDS NIH HHS UH3 NS104095
6 · The paper itself

Abstract

Importance: The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural forms of 17q21.31, characterized by the copy number of α, β, and γ duplications, have been identified. However, the specific effect of each structural form on the risk of PSP has never been evaluated in a large cohort study. Objective: To assess the association of different structural forms of 17q.21.31, defined by the copy numbers of α, β, and γ duplications, with the risk of PSP and Design setting and participants: Utilizing whole genome sequencing data of 1,684 (1,386 autopsy confirmed) individuals with PSP and 2,392 control subjects, a case-control study was conducted to investigate the association of copy numbers of α, β, and γ duplications and structural forms of 17q21.31 with the risk of PSP. All study subjects were selected from the Alzheimer's Disease Sequencing Project (ADSP) Umbrella NG00067.v7. Data were analyzed between March 2022 and November 2023. Main outcomes and measures: The main outcomes were the risk (odds ratios [ORs]) for PSP with 95% CIs. Risks for PSP were evaluated by logistic regression models. Results: The copy numbers of α and β were associated with the risk of PSP only due to their correlation with H1 and H2, while the copy number of γ was independently associated with the increased risk of PSP. Each additional duplication of γ was associated with 1.10 (95% CI, 1.04-1.17; Conclusions and relevance: This study revealed that the copy number of γ was associated with the risk of PSP independently from H1 and H2. The H1 haplotype with more γ duplications showed a higher odds ratio for PSP and were associated with

Indexed as

17q21.31Copy number variation (CNV)H1 and H2 haplotypesMAPTProgressive Supranuclear Palsy (PSP)

Identifiers

PMID38464214
PMCPMC10925353
OpenAlexW4392186144

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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.