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

DC FieldValueLanguage
dc.contributor.authorRoss, Jay P.-
dc.contributor.authorDupré, Nicolas-
dc.contributor.authorDauvilliers, Yves-
dc.contributor.authorStrong, Stephanie-
dc.contributor.authorAmbalavanan, Amirthagowri-
dc.contributor.authorSpiegelman, Dan-
dc.contributor.authorDionne-Laporte, Alexandre-
dc.contributor.authorPourcher, Emmanuelle-
dc.contributor.authorLanglois, Mélanie-
dc.contributor.authorBoivin, Michel-
dc.contributor.authorLeblond, Claire S.-
dc.contributor.authorDion, Patrick A.-
dc.contributor.authorRouleau, Guy A.-
dc.contributor.authorGan-Or, Ziv-
dc.date.accessioned2017-04-10T20:14:36Z-
dc.date.available2017-05-03T04:00:00Z-
dc.date.issued2016-05-03-
dc.identifier.issn0197-4580fr_CA
dc.identifier.urihttp://hdl.handle.net/20.500.11794/13593-
dc.description.abstractDNAJC13 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.fr_CA
dc.languageengfr_CA
dc.publisherElsevierfr_CA
dc.subjectDNAJC13fr_CA
dc.subjectParkinson’s diseasefr_CA
dc.subjectMIPsfr_CA
dc.titleAnalysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s diseasefr_CA
dc.typeCOAR1_1::Texte::Périodique::Revue::Contribution à un journal::Article::Article de recherchefr_CA
dcterms.bibliographicCitationNeurobiology of Aging, Vol. 45, 212.e13–212.e17 (2016)fr_CA
dc.audienceMédecinsfr_CA
dc.audienceProfesseurs (Enseignement supérieur)fr_CA
dc.audienceÉtudiantsfr_CA
dc.audienceDoctorantsfr_CA
dc.identifier.doi10.1016/j.neurobiolaging.2016.04.023fr_CA
dc.identifier.pubmed27236598fr_CA
dc.subject.rvmMaladie de Parkinson -- Aspect génétiquefr_CA
dc.subject.rvmCanadiens français -- Maladies -- Aspect génétiquefr_CA
rioxxterms.versionAccepted Manuscriptfr_CA
rioxxterms.version_of_recordhttps://doi.org/10.1016/j.neurobiolaging.2016.04.023fr_CA
rioxxterms.project.funder_nameautrefr_CA
bul.rights.periodeEmbargo12 moisfr_CA
Collection:Articles publiés dans des revues avec comité de lecture

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