title: Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
abstract: 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.
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Jay P
authors.initials: JP
authors.lastname: Ross
authors.affiliation: Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupre
authors.affiliation: Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Dauvilliers
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Strong
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Amirthagowri
authors.initials: A
authors.lastname: Ambalavanan
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
authors.forename: Dan
authors.initials: D
authors.lastname: Spiegelman
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Dionne-Laporte
authors.affiliation: Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.
authors.forename: Emanuelle
authors.initials: E
authors.lastname: Pourcher
authors.affiliation: Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.
authors.forename: Melanie
authors.initials: M
authors.lastname: Langlois
authors.affiliation: GRIP, École de Psychologie, Université Laval, Québec city, Quebec, Canada; Institute of Genetic, Neurobiological and Social Foundations of Child Development, Tomsk State University, Tomsk, Russia.
authors.forename: Michel
authors.initials: M
authors.lastname: Boivin
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Claire S
authors.initials: CS
authors.lastname: Leblond
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mail.mcgill.ca.
authors.forename: Ziv
authors.initials: Z
authors.lastname: Gan-Or
mesh_terms: D000328:Adult; D000368:Aged; D002170:Canada; D015331:Cohort Studies; D005260:Female; D005602:France; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017422:Sequence Analysis, DNA; D044465:White People
chemical_list: C507525:DNAJC13 protein, human; D018832:Molecular Chaperones
keywords: DNAJC13; MIPs; Parkinson's disease