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ATXN2 trinucleotide repeat length correlates with risk of ALS.
Sproviero, William; Shatunov, Aleksey; Stahl, Daniel; Shoai, Maryam; van Rheenen, Wouter; Jones, Ashley R; Al-Sarraj, Safa; Andersen, Peter M; Bonini, Nancy M; Conforti, Francesca L; Van Damme, Philip; Daoud, Hussein; Del Mar Amador, Maria; Fogh, Isabella; Forzan, Monica; Gaastra, Ben; Gellera, Cinzia; Gitler, Aaron D; Hardy, John; Fratta, Pietro; La Bella, Vincenzo; Le Ber, Isabelle; Van Langenhove, Tim; Lattante, Serena; Lee, Yi-Chung; Malaspina, Andrea; Meininger, Vincent; Millecamps, Stéphanie; Orrell, Richard; Rademakers, Rosa; Robberecht, Wim; Rouleau, Guy; Ross, Owen A; Salachas, Francois; Sidle, Katie; Smith, Bradley N; Soong, Bing-Wen; Sorarù, Gianni; Stevanin, Giovanni; Kabashi, Edor; Troakes, Claire; van Broeckhoven, Christine; Veldink, Jan H; van den Berg, Leonard H; Shaw, Christopher E; Powell, John F; Al-Chalabi, Ammar.
Afiliação
  • Sproviero W; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Shatunov A; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Stahl D; Department of Biostatistics, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
  • Shoai M; Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
  • van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, the Netherlands.
  • Jones AR; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Al-Sarraj S; Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK.
  • Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
  • Bonini NM; Department of Biology, University of Pennsylvania, Philadelphia, PA, USA.
  • Conforti FL; Institute of Neurological Sciences, National Research Council, Cosenza, Italy.
  • Van Damme P; Neurology Department, University Hospitals Leuven, Leuven, Belgium; Vesalius Research Center, VIB, Leuven, Belgium; Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium.
  • Daoud H; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
  • Del Mar Amador M; Department of Nervous System Diseases, ALS Paris ALS Center for Rare Diseases, Groupe Hospitalier Pitié Salpêtrière, APHP, Paris, France.
  • Fogh I; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Forzan M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Gaastra B; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Gellera C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Hardy J; Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
  • Fratta P; Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK.
  • La Bella V; ALS Clinical Research Center, Bio. Ne. C., University of Palermo, Palermo, Italy.
  • Le Ber I; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France; AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Centre de Référence des Démences Rares, Departement de Neurologie, Paris, France.
  • Van Langenhove T; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Insititute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
  • Lattante S; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
  • Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang-Ming University, Taipei, Taiwan.
  • Malaspina A; North-East London and Essex MND Care Centre - Neuroscience and Trauma Centre, Blizard, Institute of Cell and Molecular Medicine, Barts & the London School of Medicine & Dentistry, Barts Health NHS Trust, London, UK.
  • Meininger V; Hôpital de la Pitié-Salpêtrière, institut de recherche translationnelle en neurosciences (A-ICM), Paris, France; Hôpital de la Pitié-Salpêtrière, réseau SLA IdF, Paris, France.
  • Millecamps S; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
  • Orrell R; Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
  • Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Robberecht W; Vesalius Research Center, VIB, Leuven, Belgium; Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium.
  • Rouleau G; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
  • Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Salachas F; Department of Nervous System Diseases, ALS Paris ALS Center for Rare Diseases, Groupe Hospitalier Pitié Salpêtrière, APHP, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
  • Sidle K; Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK.
  • Smith BN; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Soong BW; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang-Ming University, Taipei, Taiwan.
  • Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy.
  • Stevanin G; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France; Neurogenetics team, Ecole Pratique des Hautes Etudes, Paris, France.
  • Kabashi E; Institut du Cerveau et de la Moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS1127, Paris, France.
  • Troakes C; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • van Broeckhoven C; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Insititute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Veldink JH; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, the Netherlands.
  • van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, the Netherlands.
  • Shaw CE; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Powell JF; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.
  • Al-Chalabi A; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK. Electronic address: ammar.al-chalabi@kcl.ac.uk.
Neurobiol Aging ; 51: 178.e1-178.e9, 2017 03.
Article em En | MEDLINE | ID: mdl-28017481
ABSTRACT
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37-3.94]; p = 6 × 10-18), with an exponential relationship between repeat length and ALS risk for alleles of 29-32 repeats (R2 = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Repetições de Trinucleotídeos / Expansão das Repetições de Trinucleotídeos / Estudos de Associação Genética / Ataxina-2 / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Repetições de Trinucleotídeos / Expansão das Repetições de Trinucleotídeos / Estudos de Associação Genética / Ataxina-2 / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article