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Article Dans Une Revue Neurobiology of Aging Année : 2016

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

Jay Ross
  • Fonction : Auteur
Nicolas Dupre
Stephanie Strong
  • Fonction : Auteur
Amirthagowri Ambalavanan
  • Fonction : Auteur
Dan Spiegelman
  • Fonction : Auteur
Alexandre Dionne-Laporte
  • Fonction : Auteur
Emanuelle Pourcher
  • Fonction : Auteur
Mélanie Langlois
  • Fonction : Auteur
  • PersonId : 867882
Michel Boivin
  • Fonction : Auteur
Claire Leblond
  • Fonction : Auteur
  • PersonId : 949745
Patrick Dion
  • Fonction : Auteur
  • PersonId : 938784
Guy A. Rouleau
  • Fonction : Auteur
  • PersonId : 889825
Ziv Gan-Or

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.

Dates et versions

hal-01867842 , version 1 (04-09-2018)

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Citer

Jay Ross, Nicolas Dupre, Yves Dauvilliers, Stephanie Strong, Amirthagowri Ambalavanan, et al.. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. Neurobiology of Aging, 2016, 45, pp.212.e13 - 212.e17. ⟨10.1016/j.neurobiolaging.2016.04.023⟩. ⟨hal-01867842⟩
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