Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease

Auteur(s): Ross, Jay P.; Dupré, Nicolas; Dauvilliers, Yves; Strong, Stephanie; Ambalavanan, Amirthagowri; Spiegelman, Dan; Dionne-Laporte, Alexandre; Pourcher, EmmanuelleLanglois, MélanieBoivin, Michel; Leblond, Claire S.; Dion, Patrick A.; Rouleau, Guy A.; Gan-Or, Ziv
Résumé: DNAJC13 mutations have been suggested to cause Parkinson's disease (PD), yet subsequent studies reported conflicting results on this association. In the present study, we sequenced the coding region of DNAJC13 in a French-Canadian/French cohort of 528 PD patients and 692 controls. A total of 62 (11.7%) carriers of rare DNAJC13 variants were identified among the PD patients compared with 82 (11.8%) among controls (p = 1.0). Two variants that were previously suggested to be associated with PD, p.R1516H and p.L2170W, were identified with similar directions of association as previously reported. The p.R1516H was found in 2 (0.4%) patients versus 6 (0.9%, nonsignificant) controls and the p.L2170W variant was found in 9 (1.7%) patients and 5 (0.7%, nonsignificant) controls. Meta-analysis with previous reports resulted in odds ratios of 0.32 (95% confidence interval = 0.15–0.68, p = 0.0037) and 2.68 (95% confidence interval = 1.32–5.42, p = 0.007), respectively. Our results provide some support for the possibility that specific DNAJC13 variants may play a minor role in PD susceptibility, although studies in additional populations are necessary.
Type de document: Article de recherche
Date de publication: 3 mai 2016
Date de la mise en libre accès: 3 mai 2017
Version du document: AM
Lien permanent: http://hdl.handle.net/20.500.11794/13593
Ce document a été publié dans: Neurobiology of Aging, Vol. 45, 212.e13–212.e17 (2016)
https://doi.org/10.1016/j.neurobiolaging.2016.04.023
Elsevier
Autre version disponible: 10.1016/j.neurobiolaging.2016.04.023
27236598
Collection :Articles publiés dans des revues avec comité de lecture

Fichier(s) :
TailleFormat 
DNAJC13 revised 29.3.16.docx85.4 kBMicrosoft Word XMLTélécharger
Tous les documents dans CorpusUL sont protégés par la Loi sur le droit d'auteur du Canada.