A genome-wide association study in multiple system atrophy

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. MhyreHuw R. Morris, Günther Deuschl, Niall Quinn, Hakan Widner, 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*, On behalf of the European Multiple System Atrophy Study Group, the UK Multiple System Atrophy Study Group

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

113 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1591-1598
Number of pages8
Issue number15
StatePublished - Oct 11 2016

ASJC Scopus subject areas

  • Clinical Neurology


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