Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
Identifieur interne : 000044 ( France/Analysis ); précédent : 000043; suivant : 000045Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
Auteurs : Jay P. Ross [Canada] ; Nicolas Dupre [Canada] ; Yves Dauvilliers [France] ; Stephanie Strong [Canada] ; Amirthagowri Ambalavanan [Canada] ; Dan Spiegelman [Canada] ; Alexandre Dionne-Laporte [Canada] ; Emanuelle Pourcher [Canada] ; Melanie Langlois [Canada] ; Michel Boivin [Russie] ; Claire S. Leblond [Canada] ; Patrick A. Dion [Canada] ; Guy A. Rouleau [Canada] ; Ziv Gan-Or [Canada]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2016.
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.
DOI: 10.1016/j.neurobiolaging.2016.04.023
PubMed: 27236598
Affiliations:
- Canada, France, Russie
- Languedoc-Roussillon, Occitanie (région administrative), Québec
- Montpellier, Montréal
- Université McGill
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Ross</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation wicri:level="3"><nlm:affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Pourcher, Emanuelle" sort="Pourcher, Emanuelle" uniqKey="Pourcher E" first="Emanuelle" last="Pourcher">Emanuelle Pourcher</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Langlois, Melanie" sort="Langlois, Melanie" uniqKey="Langlois M" first="Melanie" last="Langlois">Melanie Langlois</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Boivin, Michel" sort="Boivin, Michel" uniqKey="Boivin M" first="Michel" last="Boivin">Michel Boivin</name><affiliation wicri:level="1"><nlm: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.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>GRIP, École de Psychologie, Université Laval, Québec city, Quebec, Canada; Institute of Genetic, Neurobiological and Social Foundations of Child Development, Tomsk State University, Tomsk</wicri:regionArea><wicri:noRegion>Tomsk</wicri:noRegion></affiliation></author><author><name sortKey="Leblond, Claire S" sort="Leblond, Claire S" uniqKey="Leblond C" first="Claire S" last="Leblond">Claire S. Leblond</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="4"><nlm: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.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>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</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation wicri:level="4"><nlm: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.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>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</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Canada</li><li>France</li><li>Russie</li></country><region><li>Languedoc-Roussillon</li><li>Occitanie (région administrative)</li><li>Québec</li></region><settlement><li>Montpellier</li><li>Montréal</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><country name="Canada"><region name="Québec"><name sortKey="Ross, Jay P" sort="Ross, Jay P" uniqKey="Ross J" first="Jay P" last="Ross">Jay P. Ross</name></region><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><name sortKey="Dionne Laporte, Alexandre" sort="Dionne Laporte, Alexandre" uniqKey="Dionne Laporte A" first="Alexandre" last="Dionne-Laporte">Alexandre Dionne-Laporte</name><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><name sortKey="Langlois, Melanie" sort="Langlois, Melanie" uniqKey="Langlois M" first="Melanie" last="Langlois">Melanie Langlois</name><name sortKey="Leblond, Claire S" sort="Leblond, Claire S" uniqKey="Leblond C" first="Claire S" last="Leblond">Claire S. Leblond</name><name sortKey="Pourcher, Emanuelle" sort="Pourcher, Emanuelle" uniqKey="Pourcher E" first="Emanuelle" last="Pourcher">Emanuelle Pourcher</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><name sortKey="Spiegelman, Dan" sort="Spiegelman, Dan" uniqKey="Spiegelman D" first="Dan" last="Spiegelman">Dan Spiegelman</name><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name></region></country><country name="Russie"><noRegion><name sortKey="Boivin, Michel" sort="Boivin, Michel" uniqKey="Boivin M" first="Michel" last="Boivin">Michel Boivin</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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