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

Jay P Ross; Nicolas Dupre; Yves Dauvilliers; Stephanie Strong; Amirthagowri Ambalavanan; Dan Spiegelman; Alexandre Dionne-Laporte; Emanuelle Pourcher; Melanie Langlois; Michel Boivin; Claire S Leblond; Patrick A Dion; Guy A Rouleau; Ziv Gan-Or

doi:10.1016/j.neurobiolaging.2016.04.023

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

Neurobiol Aging. 2016 Sep:45:212.e13-212.e17. doi: 10.1016/j.neurobiolaging.2016.04.023. Epub 2016 May 3.

Affiliations

¹ Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
² Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.
³ Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.
⁴ Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
⁵ 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.
⁶ 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.
⁷ 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.

PMID: 27236598
DOI: 10.1016/j.neurobiolaging.2016.04.023

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.

Keywords: DNAJC13; MIPs; Parkinson's disease.

MeSH terms

Adult
Aged
Canada
Cohort Studies
Female
France
Genetic Association Studies*
Humans
Male
Middle Aged
Molecular Chaperones / genetics*
Mutation*
Parkinson Disease / genetics*
Sequence Analysis, DNA
White People

Substances

DNAJC13 protein, human
Molecular Chaperones

Grants and funding

CIHR/Canada