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Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
Brown, Emmeline E; Blauwendraat, Cornelis; Trinh, Joanne; Rizig, Mie; Nalls, Mike A; Leveille, Etienne; Ruskey, Jennifer A; Jonvik, Hallgeir; Tan, Manuela M X; Bandres-Ciga, Sara; Hassin-Baer, Sharon; Brockmann, Kathrin; Infante, Jon; Tolosa, Eduardo; Ezquerra, Mario; Ben Romdhan, Sawssan; Benmahdjoub, Mustapha; Arezki, Mohamed; Mhiri, Chokri; Hardy, John; Singleton, Andrew B; Alcalay, Roy N; Gasser, Thomas; Grosset, Donald G; Williams, Nigel M; Pittman, Alan; Gan-Or, Ziv; Fernandez-Santiago, Ruben; Brice, Alexis; Lesage, Suzanne; Farrer, Matthew; Wood, Nicholas; Morris, Huw R.
Afiliação
  • Brown EE; Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK.
  • Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Trinh J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Rizig M; Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK.
  • Nalls MA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International, Glen Echo, MD, USA.
  • Leveille E; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
  • Ruskey JA; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
  • Jonvik H; Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK.
  • Tan MMX; Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK.
  • Bandres-Ciga S; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Instituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain.
  • Hassin-Baer S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Neurology, Sheba Medical Center, Tel HaShomer, Israel; Movement Disorders Institute, Sheba Medical Center, Tel HaShomer, Israel.
  • Brockmann K; Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University Clinic Tu¨bingen, Tu¨bingen, Germany.
  • Infante J; Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria; "Centro de Investigación Biomédica en Red de Enfermedades, Neurodegenerativas (CIBERNED)", Santander, Spain.
  • Tolosa E; Laboratory of Parkinson Disease & Other Neurodegenerative Movement Disorders, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) - Hospital Clínic de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/001
  • Ezquerra M; Laboratory of Parkinson Disease & Other Neurodegenerative Movement Disorders, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) - Hospital Clínic de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/001
  • Ben Romdhan S; Research Unit in Neurogenetics, Clinical Investigation Center (CIC) at the CHU Habib Bourguiba, Sfax, Tunisia.
  • Benmahdjoub M; Frantz Fanon Hospital, CHU Blida, Blida, Algeria.
  • Arezki M; Frantz Fanon Hospital, CHU Blida, Blida, Algeria.
  • Mhiri C; Frantz Fanon Hospital, CHU Blida, Blida, Algeria.
  • Hardy J; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; UK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK; Reta Lila Weston Institute, UCL Q
  • Singleton AB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Alcalay RN; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA.
  • Gasser T; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tu¨bingen, Tu¨bingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tu¨bingen, Germany.
  • Grosset DG; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK; Institute of Neuroscience & Psychology, University of Glasgow, Glasgow, UK.
  • Williams NM; Division of Psychological Medicine & Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.
  • Pittman A; Department of Clinical Genetics, St George's, University of London, London, UK.
  • Gan-Or Z; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Fernandez-Santiago R; Laboratory of Parkinson Disease & Other Neurodegenerative Movement Disorders, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) - Hospital Clínic de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/001
  • Brice A; Research Unit U1127 at INSERM, Research Unit UMR 7225 at the French National Centre for Scientific Research (CNRS) Research Unit UMR_1127 at Sorbonne Université, Institutet du Cerveau et de la Moëlle épinière (ICM), Paris, France.
  • Lesage S; Research Unit U1127 at INSERM, Research Unit UMR 7225 at the French National Centre for Scientific Research (CNRS) Research Unit UMR_1127 at Sorbonne Université, Institutet du Cerveau et de la Moëlle épinière (ICM), Paris, France.
  • Farrer M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Wood N; Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK.
  • Morris HR; Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK. Electronic address: h.morris@ucl.ac.uk.
Neurobiol Aging ; 97: 148.e17-148.e24, 2021 01.
Article em En | MEDLINE | ID: mdl-32873436
ABSTRACT
The LRRK2 gene has rare (p.G2019S) and common risk variants for Parkinson's disease (PD). DNM3 has previously been reported as a genetic modifier of the age at onset in PD patients carrying the LRRK2 p.G2019S mutation. We analyzed this effect in a new cohort of LRRK2 p.G2019S heterozygotes (n = 724) and meta-analyzed our data with previously published data (n = 754). VAMP4 is in close proximity to DNM3, and was associated with PD in a recent study, so it is possible that variants in this gene may be important. We also analyzed the effect of VAMP4 rs11578699 on LRRK2 penetrance. Our analysis of DNM3 in previously unpublished data does not show an effect on age at onset in LRRK2 p.G2019S carriers; however, the inter-study heterogeneity may indicate ethnic or population-specific effects of DNM3. There was no evidence for linkage disequilibrium between DNM3 and VAMP4. Analysis of sporadic patients stratified by the risk variant LRRK2 rs10878226 indicates a possible interaction between common variation in LRRK2 and VAMP4 in disease risk.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Variação Genética / Predisposição Genética para Doença / Dinamina III / Proteínas R-SNARE / Estudos de Associação Genética / Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Variação Genética / Predisposição Genética para Doença / Dinamina III / Proteínas R-SNARE / Estudos de Associação Genética / Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido