Article (Scientific journals)
Large Scale Assessment of Polyglutamine Repeat Expansions in Parkinson Disease
Wang, Lisa; Aasly, Jan O.; Anesi, Grazia et al.
2015In Neurology, 85 (15), p. 1283-1292
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Keywords :
Parkinson; genetic; polyglutamine
Abstract :
[en] 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.
Research center :
GIGA CRC (Cyclotron Research Center) In vivo Imaging-Aging & Memory - ULiège
Disciplines :
Genetics & genetic processes
Neurology
Author, co-author :
Wang, Lisa
Aasly, Jan O.
Anesi, Grazia
Bardien, Soraya
Bozi, Maria
Brice, Alexis
Carr, Jonathan
Chung, Sun J
Clarke, Carl
Croisiers, David
Deutschländer, Angela
Eckstein, Gertrud
Farrer, Matthew
Goldwurm, Stefano
Garraux, Gaëtan  ;  Université de Liège > Département des sciences biomédicales et précliniques > Biochimie et physiologie du système nerveux
Hadjigeorgiou, Georgio
Hicks, Andrew A
Hattori, Nobutaka
Klein, Christine
Jeon, Beom
Kim, Yun J
Lesage, Suzanne
Lin, Juei-Jueng
Lynch, Timothy
Lichtner, Peter
Lang, Anthony
Mok, Vincent
Jasinska-Myga, Barbara
Mellick, George D
Morrison, Karen
Opala, Grzegorz
Pihlstrøm, Lasse
Pramstaller, Peter P
Park, Sung S
Quattrone, Aldo
Rogaeva
Ross, Owen A
Stefanis, Leonidas
Stockton
Silburn, Joanne D
Theuns, Jessie
Tan, Eng K
Tomiyama, Hiroyuki
Toft, Mathias
Van Broeckhoven, Christine
Uitti, Ryan J
Wirdefeldt, Karin
Wszolek, Zbigniew
Xiromerisiou, Georgia
Yueh, Kuo-Chu
Yi, Zhao
Gasser, Thomas
Maraganore, Demetrius M
Krüger, Rejko
Sharma, Manu
More authors (45 more) Less
Language :
English
Title :
Large Scale Assessment of Polyglutamine Repeat Expansions in Parkinson Disease
Publication date :
2015
Journal title :
Neurology
ISSN :
0028-3878
eISSN :
1526-632X
Publisher :
Lippincott Williams & Wilkins, Hagerstown, United States
Volume :
85
Issue :
15
Pages :
1283-1292
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 12 July 2016

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