Population‐specific frequencies for <i>LRRK2</i> susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium
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- Michael G. Heckman
- Biostatistics Unit Mayo Clinic Jacksonville Florida USA
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- Alexandra I. Soto‐Ortolaza
- Department of Neuroscience Mayo Clinic Jacksonville Florida USA
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- Jan O. Aasly
- Department of Neuroscience Norwegian University of Science and Technology Trondheim Norway
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- Nadine Abahuni
- Department of Neurology Goethe University Frankfurt am Main Germany
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- Grazia Annesi
- Institute of Neurological Sciences National Research Council Cosenza Italy
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- Justin A. Bacon
- Department of Neuroscience Mayo Clinic Jacksonville Florida USA
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- Soraya Bardien
- Division of Molecular Biology and Human Genetics University of Stellenbosch Cape Town South Africa
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- Maria Bozi
- General Hospital of Syros Syros Greece
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- Alexis Brice
- Université Pierre et Marie Curie‐Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Épinière Medical Research Unit S975 Paris France
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- Laura Brighina
- Department of Neuroscience‐Section of Neurology University of Milano‐Bicocca, San Gerardo Hospital Monza Italy
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- Jonathan Carr
- Division of Neurology University of Stellenbosch Cape Town South Africa
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- Marie‐Christine Chartier‐Harlin
- University Lille Nord de France, Centre de Recherche Jean‐Pierre Aubert Lille France
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- Efthimios Dardiotis
- Department of Neurology Laboratory of Neurogenetics Faculty of Medicine University of Thessaly Larissa Greece
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- Dennis W. Dickson
- Department of Neuroscience Mayo Clinic Jacksonville Florida USA
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- Nancy N. Diehl
- Biostatistics Unit Mayo Clinic Jacksonville Florida USA
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- Alexis Elbaz
- Institut National de la Santé et de la Recherche Médicale Unit 1018, Centre for Research in Epidemiology and Population Health Villejuif France
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- Carlo Ferrarese
- Department of Neuroscience‐Section of Neurology University of Milano‐Bicocca, San Gerardo Hospital Monza Italy
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- Brian Fiske
- The Michael J. Fox Foundation for Parkinson's Research New York New York USA
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- J. Mark Gibson
- Department of Neurology Royal Victoria Hospital Belfast Ireland
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- Rachel Gibson
- Research and Development GlaxoSmithKline Pharmaceuticals Ltd Stevenage United Kingdom
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- Georgios M. Hadjigeorgiou
- Department of Neurology Laboratory of Neurogenetics Faculty of Medicine University of Thessaly Larissa Greece
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- Nobutaka Hattori
- Department of Neurology Juntendo University School of Medicine Tokyo Japan
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- John P.A. Ioannidis
- Clinical and Molecular Epidemiology Unit Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece
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- Magdalena Boczarska‐Jedynak
- Department of Neurology Medical University of Silesia Katowice Poland
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- Barbara Jasinska‐Myga
- Department of Neurology Medical University of Silesia Katowice Poland
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- Beom S. Jeon
- Department of Neurology Seoul National University Hospital Seoul South Korea
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- Yun Joong Kim
- ILSONG Institute of Life Science and Department of Neurology Hallym University Anyang South Korea
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- Christine Klein
- Section of Clinical and Molecular Neurogenetics at the Department of Neurology University of Luebeck Luebeck Germany
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- Rejko Kruger
- Department for Neurodegenerative Diseases Hertie‐Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen Tübingen Germany
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- Elli Kyratzi
- Divisions of Basic Neurosciences and Cell Biology Biomedical Research Foundation of the Academy of Athens Athens Greece
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- Suzanne Lesage
- Université Pierre et Marie Curie‐Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Épinière Medical Research Unit S975 Paris France
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- Chin‐Hsien Lin
- Department of Neurology National Taiwan University Hospital Yun‐Lin Branch Yun‐Lin Taiwan
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- Timothy Lynch
- Dublin Neurological Institute at the Mater Misericordiae University Hospital and Conway Institute of Biomolecular and Biomedical Research, University College Dublin Ireland
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- Demetrius M. Maraganore
- Department of Neurology North Shore University Health System Evanston Illinois USA
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- George D. Mellick
- Eskitis Institute for Cell and Molecular Therapies Griffith University Brisbane Queensland Australia
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- Eugénie Mutez
- University Lille Nord de France, Centre de Recherche Jean‐Pierre Aubert Lille France
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- Christer Nilsson
- Clinical Memory Research Unit Department of Clinical Sciences Lund University Lund Sweden
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- Grzegorz Opala
- Department of Neurology Medical University of Silesia Katowice Poland
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- Sung Sup Park
- Department of Laboratory Medicine Seoul National University Hospital Seoul South Korea
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- Simona Petrucci
- Mendel Laboratory Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy
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- Andreas Puschmann
- Department of Neurology Skåne University Hospital Lund Sweden
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- Aldo Quattrone
- Department of Medical Sciences Institute of Neurology University Magna Graecia and Neuroimaging Research Unit National Research Council Catanzaro Italy
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- Manu Sharma
- Department for Neurodegenerative Diseases Hertie‐Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen Tübingen Germany
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- Peter A. Silburn
- University of Queensland Centre for Clinical Research, Royal Brisbane Hospital Brisbane Queensland Australia
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- Young Ho Sohn
- Department of Neurology Yonsei University College of Medicine Seoul South Korea
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- Leonidas Stefanis
- Divisions of Basic Neurosciences and Cell Biology Biomedical Research Foundation of the Academy of Athens Athens Greece
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- Vera Tadic
- Section of Clinical and Molecular Neurogenetics at the Department of Neurology University of Luebeck Luebeck Germany
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- Jessie Theuns
- Neurodegenerative Brain Diseases Group Department of Molecular Genetics VIB Antwerp Belgium
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- Hiroyuki Tomiyama
- Department of Neurology Juntendo University School of Medicine Tokyo Japan
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- Ryan J. Uitti
- Department of Neurology Mayo Clinic Jacksonville Florida USA
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- Enza Maria Valente
- Mendel Laboratory Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo Italy
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- Christine Van Broeckhoven
- Neurodegenerative Brain Diseases Group Department of Molecular Genetics VIB Antwerp Belgium
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- Simone van de Loo
- Department of Neurology Goethe University Frankfurt am Main Germany
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- Demetrios K. Vassilatis
- Divisions of Basic Neurosciences and Cell Biology Biomedical Research Foundation of the Academy of Athens Athens Greece
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- Carles Vilariño‐Güell
- Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada
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- Linda R. White
- University Hospital and Norwegian University of Science and Technology Trondheim Norway
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- Karin Wirdefeldt
- Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics Karolinska Institute Stockholm Sweden
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- Zbigniew K. Wszolek
- Department of Neurology Mayo Clinic Jacksonville Florida USA
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- Ruey‐Meei Wu
- Department of Neurology National Taiwan University Hospital, College of Medicine, National Taiwan University Taipei Taiwan
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- Faycal Hentati
- Institut de Neurologie Laboratoire de Neurobiologie Moleculaire La Rabta Tunis Tunisia
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- Matthew J. Farrer
- Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada
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- Owen A. Ross
- Department of Neuroscience Mayo Clinic Jacksonville Florida USA
この論文をさがす
説明
<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Establishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society</jats:p></jats:sec>
収録刊行物
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- Movement Disorders
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Movement Disorders 28 (12), 1740-1744, 2013-08-02
Wiley
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詳細情報 詳細情報について
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- CRID
- 1360283689592598784
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- ISSN
- 15318257
- 08853185
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- 資料種別
- journal article
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- データソース種別
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- Crossref
- KAKEN
