ArticlemedRxiv : the preprint server for health sciences2024
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in
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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. Not yet cited in PubMed.
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38 authors.
Pilar Álvarez JerezCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5812-1898
Peter A Wild CreaLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID 0000-0001-8944-5716
Daniel M RamosCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Emil K GustavssonGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-0541-7537
Mandy RadefeldtCentogene GmbH, Rostock, Germany.
Mary B MakariousLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID 0000-0002-7978-1051
Oluwadamilola O OjoCollege of Medicine, University of Lagos, Idi Araba, Lagos State, Nigeria.
Kimberley J BillingsleyCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Laksh MalikCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Kensuke DaidaLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Sarah BromberekCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Carol HuCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Zachary SchneiderLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Aditya L SurapaneniDepartment of Medicine, New York University Langone School of Medicine, New York, New York, USA.
Julia StadlerCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Mie RizigDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-2420-4449
Huw R MorrisUCL Movement Disorders Centre, University College London, London, UK.ORCID 0000-0002-5473-3774
Caroline B PantazisCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Hampton L LeonardCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Laurel ScrevenCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Yue A QiCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Mike A NallsCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Sara Bandres-CigaCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
John HardyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Henry HouldenDepartment of Medicine, New York University Langone School of Medicine, New York, New York, USA.ORCID 0000-0002-2866-7777
Celeste EngDepartment of Biotherapeutic Sciences and Department of Medicine, University of California, San Francisco, CA, USA.
Esteban González BurchardDepartment of Biotherapeutic Sciences and Department of Medicine, University of California, San Francisco, CA, USA.
Linda KachuriDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-3226-4727
Global Parkinson’s Genetics Program (GP2)
Andrew B SingletonCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Steffen FischerCentogene GmbH, Rostock, Germany.
Peter BauerCentogene GmbH, Rostock, Germany.
Xylena ReedCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Mina RytenGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Christian BeetzCentogene GmbH, Rostock, Germany.
Michael WardCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5296-8051
Njideka U OkubadejoCollege of Medicine, University of Lagos, Idi Araba, Lagos State, Nigeria.ORCID 0000-0003-2975-8803
Cornelis BlauwendraatCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Funding
New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6MLong-read DNA sequencing of Alzheimers Disease and Related Dementias casesZIAAG000538 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2020 to 2025
$39.6MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MNatural History of Viral Induced Airway Dysfunction and Asthma in Minority ChildrenU01HL138626 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RODRIGUEZ-SANTANA, JOSE, SEIBOLD, MAX A · 2018 to 2022
$10.0MThe Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with AsthmaR01HL117004 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, SEIBOLD, MAX A · 2013 to 2022
$9.3MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MMulti-Omics and Chronic Kidney Disease: Correlation with HistologyR01DK108803 · NIDDK · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Morgan Erika Grams, EUGENE P. RHEE · 2016 to 2026
$6.4MSocial Interventions to address disparities In young adult tobacco useP60MD006902 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BIBBINS-DOMINGO, KIRSTEN · 2012 to 2016
$6.4MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MGene-environments and Admixture in Latino Asthmatics (GALA 2)R01ES015794 · NIEHS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BURCHARD, ESTEBAN GONZALEZ · 2008 to 2012
$5.4MOptimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MIntramural NIH HHS ZIA AG000538Intramural NIH HHS ZIA AG000542Intramural NIH HHS ZIA AG000543NHGRI NIH HHS U01 HG009080NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG008901NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL117004NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL135156NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL138626NIDDK NIH HHS R01 DK108803NIEHS NIH HHS HHSN268201600032CNIEHS NIH HHS R01 ES015794NIMHD NIH HHS P60 MD006902NIMHD NIH HHS R56 MD013312
Abstract
Recently, a novel African ancestry specific Parkinson's disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (
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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.