A genome-wide association study in multiple system atrophy

Alberto Albanese, 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. FederoffTimothy R. Mhyre, Huw R. Morris, Günther Deuschl, Niall Quinn, Hakan Widner, 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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

69 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)1591-1598
Numero di pagine8
Stato di pubblicazionePubblicato - 2016


  • Alkyl and Aryl Transferases
  • Brain
  • Cohort Studies
  • Europe
  • European Continental Ancestry Group
  • Genetic Loci
  • Genome-Wide Association Study
  • Genotyping Techniques
  • Humans
  • Multiple System Atrophy
  • Neurology (clinical)
  • Polymorphism, Single Nucleotide
  • RNA, Messenger
  • United States
  • alpha-Synuclein

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