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Type: Journal article
Title: A genome-wide association study in multiple system atrophy
Author: Sailer, A.
Scholz, S.W.
Nalls, M.A.
Schulte, C.
Federoff, M.
Price, T.R.
Lees, A.
Ross, O.A.
Dickson, D.W.
Mok, K.
Mencacci, N.E.
Schottlaender, L.
Chelban, V.
Ling, H.
O'Sullivan, S.S.
Wood, N.W.
Traynor, B.J.
Ferrucci, L.
Federoff, H.J.
Mhyre, T.R.
et al.
Citation: Neurology, 2016; 87(15):1591-1598
Publisher: American Academy of Neurology
Issue Date: 2016
ISSN: 0028-3878
Statement of
Anna Sailer, Sonja W. Scholz, Michael A. Nalls, Claudia Schulte, Monica Federoff ... Tamas Revesz ... et al.
Abstract: 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.
Keywords: European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group
Multiple System Atrophy
Alkyl and Aryl Transferases
RNA, Messenger
Cohort Studies
Polymorphism, Single Nucleotide
United States
Genome-Wide Association Study
Genetic Loci
Genotyping Techniques
White People
Rights: © 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
DOI: 10.1212/WNL.0000000000003221
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