Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., 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., PihlstrØm 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., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M.

dc.creator	Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., 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., PihlstrØm 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., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M.	en
dc.date.accessioned	2023-01-31T11:37:20Z
dc.date.available	2023-01-31T11:37:20Z
dc.date.issued	2015
dc.identifier	10.1212/WNL.0000000000002016
dc.identifier.issn	00283878
dc.identifier.uri	http://hdl.handle.net/11615/80778
dc.description.abstract	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. © 2015 American Academy of Neurology.	en
dc.language.iso	en	en
dc.source	Neurology	en
dc.source.uri	https://www.scopus.com/inward/record.uri?eid=2-s2.0-84944415009&doi=10.1212%2fWNL.0000000000002016&partnerID=40&md5=41e5ed61b722e81e05b5e28fbaacdc54
dc.subject	polyglutamine	en
dc.subject	ataxin	en
dc.subject	nerve protein	en
dc.subject	nuclear protein	en
dc.subject	peptide	en
dc.subject	polyglutamine	en
dc.subject	Article	en
dc.subject	Asian	en
dc.subject	Caucasian	en
dc.subject	cohort analysis	en
dc.subject	controlled study	en
dc.subject	female	en
dc.subject	gene locus	en
dc.subject	genetic risk	en
dc.subject	human	en
dc.subject	idiopathic disease	en
dc.subject	major clinical study	en
dc.subject	male	en
dc.subject	multicenter study	en
dc.subject	Parkinson disease	en
dc.subject	pathogenesis	en
dc.subject	priority journal	en
dc.subject	risk assessment	en
dc.subject	spinocerebellar degeneration	en
dc.subject	trinucleotide repeat	en
dc.subject	aged	en
dc.subject	gene frequency	en
dc.subject	genetic predisposition	en
dc.subject	genetics	en
dc.subject	metabolism	en
dc.subject	middle aged	en
dc.subject	Parkinson disease	en
dc.subject	phenotype	en
dc.subject	risk	en
dc.subject	trinucleotide repeat	en
dc.subject	Aged	en
dc.subject	Ataxins	en
dc.subject	Female	en
dc.subject	Gene Frequency	en
dc.subject	Genetic Predisposition to Disease	en
dc.subject	Humans	en
dc.subject	Male	en
dc.subject	Middle Aged	en
dc.subject	Nerve Tissue Proteins	en
dc.subject	Nuclear Proteins	en
dc.subject	Parkinson Disease	en
dc.subject	Peptides	en
dc.subject	Phenotype	en
dc.subject	Risk	en
dc.subject	Trinucleotide Repeat Expansion	en
dc.subject	Lippincott Williams and Wilkins	en
dc.title	Large-scale assessment of polyglutamine repeat expansions in Parkinson disease	en
dc.type	journalArticle	en

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