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Wang, L.* ; Aasly, J.O.* ; Annesi, G.* ; Bardien, S.* ; Bozi, M.* ; Brice, A.* ; Carr, J.J.* ; Chung, S.J.* ; Clarke, C.* ; Crosiers, D.* ; Deutschländer, A.* ; Eckstein, G.N. ; Farrer, M.J.* ; Goldwurm, S.* ; Garraux, G.* ; Hadjigeorgiou, G.M.* ; Hicks, A.A.* ; Hattori, N.* ; Klein, C.* ; Jeon, B.* ; Kim, Y.J.* ; Lesage, S.* ; Lin, J.J.* ; Lynch, T.* ; Lichtner, P. ; Lang, A.E.* ; Mok, V.* ; Jasinska-Myga, B.* ; Mellick, G.D.* ; Morrison, K.E.* ; Opala, G.* ; Pihlstrom, L.* ; Pramstaller, P.P.* ; Park, S.S.* ; Quattrone, A.* ; Rogaeva, E.* ; Ross, O.A.* ; Stefanis, L.* ; Stockton, J.D.* ; Silburn, P.A.* ; Theuns, J.* ; Tan, E.K.* ; Tomiyama, H.* ; Toft, M.F.* ; van Broeckhoven, C.* ; Uitti, R.J.* ; Wirdefeldt, K.* ; Wszolek, Z.* ; Xiromerisiou, G.* ; Yueh, K.C.* ; Zhao, Y.* ; Gasser, T.* ; Maraganore, D.M.* ; Kruger, R.* ; Sharma, M.*

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.

Neurology 85, 1283-1292 (2015)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. Results: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. Conclusions: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 0028-3878
e-ISSN 1526-632X
Journal Neurology
Quellenangaben Volume: 85, Issue: 15, Pages: 1283-1292 Article Number: , Supplement: ,
Publisher Lippincott Williams & Wilkins
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Soil Ecology (IBOE)
Institute of Human Genetics (IHG)