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dc.contributor.authorWang, Lisa
dc.contributor.authorAasly, Jan O
dc.contributor.authorAnnesi, Grazia
dc.contributor.authorBardien, Soraya
dc.contributor.authorBozi, Maria
dc.contributor.authorBrice, Alexis
dc.contributor.authorCarr, Jonathan
dc.contributor.authorChung, Sun J
dc.contributor.authorClarke, Carl
dc.contributor.authorCrosiers, David
dc.contributor.authorDeutschlaender, Angela
dc.contributor.authorEckstein, Gertrud
dc.contributor.authorFarrer, Matthew J
dc.contributor.authorGoldwurm, Stefano
dc.contributor.authorGarraux, Gaetan
dc.contributor.authorHadjigeorgiou, Georgios M
dc.contributor.authorHicks, Andrew A
dc.contributor.authorHattori, Nobutaka
dc.contributor.authorKlein, Christine
dc.contributor.authorJeon, Beom
dc.contributor.authorKim, Yun J
dc.contributor.authorLesage, Suzanne
dc.contributor.authorLin, Juei-Jueng
dc.contributor.authorLynch, Timothy
dc.contributor.authorLichtner, Peter
dc.contributor.authorLang, Anthony E
dc.contributor.authorMok, Vincent
dc.contributor.authorJasinska-Myga, Barbara
dc.contributor.authorMellick, George D
dc.contributor.authorMorrison, Karen E
dc.contributor.authorOpala, Grzegorz
dc.contributor.authorPihlstrom, Lasse
dc.contributor.authorPramstaller, Peter P
dc.contributor.authorPark, Sung S
dc.contributor.authorQuattrone, Aldo
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorRoss, Owen A
dc.contributor.authorStefanis, Leonidas
dc.contributor.authorStockton, Joanne D
dc.contributor.authorSilburn, Peter A
dc.contributor.authorTheuns, Jessie
dc.contributor.authorTan, Eng K
dc.contributor.authorTomiyama, Hiroyuki
dc.contributor.authorToft, Mathias
dc.contributor.authorVan Broeckhoven, Christine
dc.contributor.authorUitti, Ryan J
dc.contributor.authorWirdefeldt, Karin
dc.contributor.authorWszolek, Zbigniew
dc.contributor.authorXiromerisiou, Georgia
dc.contributor.authorYueh, Kuo-Chu
dc.contributor.authorZhao, Yi
dc.contributor.authorGasser, Thomas
dc.contributor.authorMaraganore, Demetrius M
dc.contributor.authorKrueger, Rejko
dc.contributor.authorSharma, Manu
dc.description.abstractObjectives: 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.
dc.publisherLippincott Williams & Wilkins
dc.subject.fieldofresearchClinical Sciences not elsewhere classified
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchCognitive Sciences
dc.titleLarge-scale assessment of polyglutamine repeat expansions in Parkinson disease
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.rights.copyrightSelf-archiving of the author-manuscript version is not yet supported by this journal. Please refer to the journal link for access to the definitive, published version or contact the authors for more information.
gro.hasfulltextNo Full Text
gro.griffith.authorMellick, George

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