Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
Identifieur interne : 000097 ( PubMed/Curation ); précédent : 000096; suivant : 000098Analysis 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
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<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>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright © 2016 Elsevier Inc. All rights reserved.</CopyrightInformation>
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<Author ValidYN="Y"><LastName>Dionne-Laporte</LastName>
<ForeName>Alexandre</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</Affiliation>
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<ForeName>Emanuelle</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.</Affiliation>
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<ForeName>Melanie</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Division of Neurology, CHU de Québec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Boivin</LastName>
<ForeName>Michel</ForeName>
<Initials>M</Initials>
<AffiliationInfo><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.</Affiliation>
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<Author ValidYN="Y"><LastName>Leblond</LastName>
<ForeName>Claire S</ForeName>
<Initials>CS</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Dion</LastName>
<ForeName>Patrick A</ForeName>
<Initials>PA</Initials>
<AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Rouleau</LastName>
<ForeName>Guy A</ForeName>
<Initials>GA</Initials>
<AffiliationInfo><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.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gan-Or</LastName>
<ForeName>Ziv</ForeName>
<Initials>Z</Initials>
<AffiliationInfo><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.</Affiliation>
</AffiliationInfo>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>05</Month>
<Day>03</Day>
</ArticleDate>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Neurobiol Aging</MedlineTA>
<NlmUniqueID>8100437</NlmUniqueID>
<ISSNLinking>0197-4580</ISSNLinking>
</MedlineJournalInfo>
<CitationSubset>IM</CitationSubset>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DNAJC13</Keyword>
<Keyword MajorTopicYN="N">MIPs</Keyword>
<Keyword MajorTopicYN="N">Parkinson's disease</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>01</Month>
<Day>22</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2016</Year>
<Month>03</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>04</Month>
<Day>26</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>5</Month>
<Day>30</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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<Month>5</Month>
<Day>30</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2016</Year>
<Month>5</Month>
<Day>30</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">27236598</ArticleId>
<ArticleId IdType="pii">S0197-4580(16)30060-4</ArticleId>
<ArticleId IdType="doi">10.1016/j.neurobiolaging.2016.04.023</ArticleId>
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