|Title||Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.|
|Publication Type||Journal Article|
|Year of Publication||2016|
|Auteurs||Ross, JP, Dupré, N, Dauvilliers, Y, Strong, S, Ambalavanan, A, Spiegelman, D, Dionne-Laporte, A, Pourcher, E, Langlois, M, Boivin, M, Leblond, CS, Dion, PA, Rouleau, GA, Gan-Or, iv, Z|
|Date Published||2016 Sep|
|Keywords||Adult, Aged, Canada, Cohort Studies, European Continental Ancestry Group, Female, France, Genetic Association Studies, Humans, Male, Middle Aged, Molecular Chaperones, Mutation, Parkinson Disease, Sequence Analysis, DNA|
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.
|Alternate Journal||Neurobiol. Aging|