A genome-wide association study in multiple system atrophy

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Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). Methods: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. Results: We found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10-6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA. Conclusions: We present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps.


  • Anna Sailer
  • Sonja W. Scholz
  • Michael A. Nalls
  • Claudia Schulte
  • Monica Federoff
  • T. Ryan Price
  • Andrew Lees
  • Owen A. Ross
  • Dennis W. Dickson
  • Kin Mok
  • Niccolo E. Mencacci
  • Lucia Schottlaender
  • Viorica Chelban
  • Helen Ling
  • Sean S. O'Sullivan
  • Nicholas W. Wood
  • Bryan J. Traynor
  • Luigi Ferrucci
  • Howard J. Federoff
  • Timothy R. Mhyre
  • Huw R. Morris
  • Günther Deuschl
  • Niall Quinn
  • Alberto Albanese
  • Jon Infante
  • Kailash P. Bhatia
  • Werner Poewe
  • Wolfgang Oertel
  • Günter U. Höglinger
  • Ullrich Wüllner
  • Stefano Goldwurm
  • Maria Teresa Pellecchia
  • Joaquim Ferreira
  • Eduardo Tolosa
  • Bastiaan R. Bloem
  • Olivier Rascol
  • Wassilios G. Meissner
  • John A. Hardy
  • Tamas Revesz
  • Janice L. Holton
  • Thomas Gasser
  • Gregor K. Wenning
  • Andrew B. Singleton
  • Henry Houlden
Enheter & grupper
Externa organisationer
  • Goethe University
  • Johns Hopkins Hospital
  • National Institute on Aging, United States
  • German Center for Neurodegenerative Diseases
  • University College London
  • Mayo Clinic Florida
  • Hong Kong University of Science and Technology
  • Georgetown University
  • University of Kiel
  • Catholic University of the Sacred Heart
  • University of Cantabria
  • Medical University of Innsbruck
  • Philipp University of Marburg
  • Universitätsklinikum Bonn
  • Istituti Clinici Di Perfezionamento Hospital , Milan
  • University of Salerno
  • University of Lisbon
  • University of Barcelona
  • Radboud Institute for Health Sciences
  • University of Bordeaux
  • Radboud University Medical Center

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Neurologi
Sidor (från-till)1591-1598
Antal sidor8
Utgåva nummer15
StatusPublished - 2016 okt 11
Peer review utfördJa