title: A genome-wide association study in multiple system atrophy.
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.
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Anna
authors.initials: A
authors.lastname: Sailer
authors.affiliation: Authors' affiliations are listed at the end of the article. h.houlden@ucl.ac.uk sonja.scholz@nih.gov.
authors.forename: Sonja W
authors.initials: SW
authors.lastname: Scholz
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authors.forename: Michael A
authors.initials: MA
authors.lastname: Nalls
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authors.forename: Claudia
authors.initials: C
authors.lastname: Schulte
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authors.forename: Monica
authors.initials: M
authors.lastname: Federoff
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authors.forename: T Ryan
authors.initials: TR
authors.lastname: Price
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authors.forename: Andrew
authors.initials: A
authors.lastname: Lees
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authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
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authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
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authors.forename: Kin
authors.initials: K
authors.lastname: Mok
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authors.forename: Niccolo E
authors.initials: NE
authors.lastname: Mencacci
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authors.forename: Lucia
authors.initials: L
authors.lastname: Schottlaender
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authors.forename: Viorica
authors.initials: V
authors.lastname: Chelban
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authors.forename: Helen
authors.initials: H
authors.lastname: Ling
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authors.forename: Sean S
authors.initials: SS
authors.lastname: O'Sullivan
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authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
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authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
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authors.forename: Luigi
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authors.lastname: Ferrucci
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authors.forename: Howard J
authors.initials: HJ
authors.lastname: Federoff
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authors.forename: Timothy R
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authors.lastname: Mhyre
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authors.forename: Huw R
authors.initials: HR
authors.lastname: Morris
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authors.forename: Günther
authors.initials: G
authors.lastname: Deuschl
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authors.forename: Niall
authors.initials: N
authors.lastname: Quinn
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authors.forename: Hakan
authors.initials: H
authors.lastname: Widner
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authors.forename: Alberto
authors.initials: A
authors.lastname: Albanese
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authors.forename: Jon
authors.initials: J
authors.lastname: Infante
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authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
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authors.forename: Werner
authors.initials: W
authors.lastname: Poewe
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authors.forename: Wolfgang
authors.initials: W
authors.lastname: Oertel
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authors.forename: Günter U
authors.initials: GU
authors.lastname: Höglinger
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authors.forename: Ullrich
authors.initials: U
authors.lastname: Wüllner
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authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
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authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Pellecchia
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authors.forename: Joaquim
authors.initials: J
authors.lastname: Ferreira
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authors.forename: Eduardo
authors.initials: E
authors.lastname: Tolosa
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authors.forename: Bastiaan R
authors.initials: BR
authors.lastname: Bloem
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authors.forename: Olivier
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authors.lastname: Rascol
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authors.forename: Wassilios G
authors.initials: WG
authors.lastname: Meissner
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authors.forename: John A
authors.initials: JA
authors.lastname: Hardy
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authors.forename: Tamas
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authors.lastname: Revesz
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authors.forename: Janice L
authors.initials: JL
authors.lastname: Holton
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authors.forename: Thomas
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authors.lastname: Gasser
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authors.forename: Gregor K
authors.initials: GK
authors.lastname: Wenning
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authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.affiliation: Authors' affiliations are listed at the end of the article. h.houlden@ucl.ac.uk sonja.scholz@nih.gov.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D019883:Alkyl and Aryl Transferases / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology; D015331:Cohort Studies; D005060:Europe; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D006801:Humans; D019578:Multiple System Atrophy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000378:metabolism; D014481:United States; D044465:White People / Q000235:genetics; D051844:alpha-Synuclein / Q000235:genetics
chemical_list: D012333:RNA, Messenger; C497604:SNCA protein, human; D051844:alpha-Synuclein; D019883:Alkyl and Aryl Transferases; C021386:4-hydroxybenzoate polyprenyltransferase