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Scholz, S.W.* ; Houlden, H.* ; Schulte, C.* ; Sharma, M.* ; Li, A.* ; Berg, D.* ; Melchers, A.* ; Paudel, R.* ; Gibbs, J.R.* ; Simon-Sanchez, J.* ; Paisan-Ruiz, C.* ; Bras, J.* ; Ding, J.* ; Chen, H.* ; Traynor, B.J.* ; Arepalli, S.* ; Zonozi, R.R.* ; Revesz, T.* ; Holton, J.* ; Wood, N.* ; Lees, A.* ; Oertel, W.* ; Wüllner, U.* ; Goldwurm, S.* ; Pellecchia, M.T.* ; Illig, T. ; Riess, O.* ; Fernandez, H.H.* ; Rodriguez, R.L.* ; Okun, M.S.* ; Poewe, W.* ; Wenning, G.K.* ; Hardy, J.A.* ; Singleton, A.B.* ; Gasser, T.*

SNCA variants are associated with increased risk for multiple system atrophy.

Ann. Neurol. 65, 610-614 (2009)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
To test whether the synucleinopathies Parkinson's disease and multiple system atrophy (MSA) share a common genetic etiology, we performed a candidate single nucleotide polymorphism (SNP) association study of the 384 most associated SNPs in a genome-wide association study of Parkinson's disease in 413 MSA cases and 3,974 control subjects. The 10 most significant SNPs were then replicated in additional 108 MSA cases and 537 controls. SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 × 1012; odds ratio 6.2). © 2009 American Neurological Association.
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Publication type Article: Journal article
Document type Scientific Article
Keywords alpha-synuclein gene; parkinsons-disease; triplication; diagnosis
ISSN (print) / ISBN 0364-5134
e-ISSN 1531-8249
Journal Annals of Neurology
Quellenangaben Volume: 65, Issue: 5, Pages: 610-614 Article Number: , Supplement: ,
Publisher Wiley
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)