Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Wang, Lisa, Aasly, Jan O., Annesi, Grazia, Bardien, Soraya, Bozi, Maria, Brice, Alexis, Carr, Jonathan, Chung, Sun J., Clarke, Carl, Crosiers, David, Deutschlander, Angela, Eckstein, Gertrud, Farrer, Matthew J., Goldwurm, Stefano, Garraux, Gaetan, Hadjigeorgiou, Georgios M., Hicks, Andrew A., Hattori, Nobutaka, Klein, Christine, Jeon, Beom, Kim, Yun J., Lesage, Suzanne, Lin, Juei-Jueng, Lynch, Timothy, Lichtner, Peter, Lang, Anthony E., Mok, Vincent, Jasinska-Myga, Barbara, Mellick, George D., Morrison, Karen E., Opala, Grzegorz, Pihlstrøm, Lasse, Pramstaller, Peter P., Park, Sung S., Quattrone, Aldo, Rogaeva, Ekaterina, Ross, Owen A., Stefanis, Leonidas, Stockton, Joanne, Silburn, Peter A., Theuns, Jessie, Tan, Eng K., Tomiyama, Hiroyuki, Toft, Mathias, Van Broeckhoven, Christine, Uitti, Ryan J., Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Yueh, Kuo-Chu, Zhao, Yi, Gasser, Thomas, Maraganore, Demetrius M., Kruger, Rejko and Sharma, Manu (2015) Large-scale assessment of polyglutamine repeat expansions in Parkinson disease. Neurology, 85 15: 1283-1292. doi:10.1212/WNL.0000000000002016

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Author Wang, Lisa
Aasly, Jan O.
Annesi, Grazia
Bardien, Soraya
Bozi, Maria
Brice, Alexis
Carr, Jonathan
Chung, Sun J.
Clarke, Carl
Crosiers, David
Deutschlander, Angela
Eckstein, Gertrud
Farrer, Matthew J.
Goldwurm, Stefano
Garraux, Gaetan
Hadjigeorgiou, Georgios M.
Hicks, Andrew A.
Hattori, Nobutaka
Klein, Christine
Jeon, Beom
Kim, Yun J.
Lesage, Suzanne
Lin, Juei-Jueng
Lynch, Timothy
Lichtner, Peter
Lang, Anthony E.
Mok, Vincent
Jasinska-Myga, Barbara
Mellick, George D.
Morrison, Karen E.
Opala, Grzegorz
Pihlstrøm, Lasse
Pramstaller, Peter P.
Park, Sung S.
Quattrone, Aldo
Rogaeva, Ekaterina
Ross, Owen A.
Stefanis, Leonidas
Stockton, Joanne
Silburn, Peter A.
Theuns, Jessie
Tan, Eng K.
Tomiyama, Hiroyuki
Toft, Mathias
Van Broeckhoven, Christine
Uitti, Ryan J.
Wirdefeldt, Karin
Wszolek, Zbigniew
Xiromerisiou, Georgia
Yueh, Kuo-Chu
Zhao, Yi
Gasser, Thomas
Maraganore, Demetrius M.
Kruger, Rejko
Sharma, Manu
Title Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Journal name Neurology   Check publisher's open access policy
ISSN 1526-632X
Publication date 2015-10-13
Sub-type Article (original research)
DOI 10.1212/WNL.0000000000002016
Open Access Status File (Publisher version)
Volume 85
Issue 15
Start page 1283
End page 1292
Total pages 10
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams and Wilkins
Language eng
Formatted 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2016 Collection
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Citation counts: TR Web of Science Citation Count  Cited 6 times in Thomson Reuters Web of Science Article | Citations
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