RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.
Identifieur interne : 000006 ( PubMed/Corpus ); précédent : 000005; suivant : 000007RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.
Auteurs : Jay P. Ross ; Nicolas Dupré ; Yves Dauvilliers ; Stephanie Strong ; Alexandre Dionne-Laporte ; Patrick A. Dion ; Guy A. Rouleau ; Ziv Gan-OrSource :
- Neurobiology of aging [ 1558-1497 ] ; 2017.
Abstract
Variants in the RIC3 gene have recently been suggested as a novel cause of Parkinson's disease (PD). Herein, the entire RIC3 gene was sequenced in a French-Canadian and French sample series of 535 PD patients and 527 unaffected controls. The effect of single variants and the combined effect of variants were calculated. Sequence Kernel association tests (SKAT, SKAT-O) were done on the entire gene level, and on the different domains and exons of RIC3. A total of 28 common and rare variants were identified in patients and controls. No significant association was found between any variant and haplotype in RIC3 and PD, and there was no over-representation of RIC3 variants at the entire gene, domain, or exon levels in patients versus controls. Our results do not support a role for RIC3 mutations as a common cause of PD in the French-Canadian and French populations.
DOI: 10.1016/j.neurobiolaging.2017.01.005
PubMed: 28153381
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Ross</name><affiliation><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><affiliation><nlm:affiliation>Division of Neurology, CHU de Québec, Faculty of Medicine, Laval University, Quebec City, Québec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation><nlm:affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology, Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name><affiliation><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. 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Ross</name><affiliation><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><affiliation><nlm:affiliation>Division of Neurology, CHU de Québec, Faculty of Medicine, Laval University, Quebec City, Québec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation><nlm:affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology, Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name><affiliation><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</nlm:affiliation></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><nlm:affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. Electronic address: ziv.gan-or@mail.mcgill.ca.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Variants in the RIC3 gene have recently been suggested as a novel cause of Parkinson's disease (PD). Herein, the entire RIC3 gene was sequenced in a French-Canadian and French sample series of 535 PD patients and 527 unaffected controls. The effect of single variants and the combined effect of variants were calculated. Sequence Kernel association tests (SKAT, SKAT-O) were done on the entire gene level, and on the different domains and exons of RIC3. A total of 28 common and rare variants were identified in patients and controls. No significant association was found between any variant and haplotype in RIC3 and PD, and there was no over-representation of RIC3 variants at the entire gene, domain, or exon levels in patients versus controls. Our results do not support a role for RIC3 mutations as a common cause of PD in the French-Canadian and French populations.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28153381</PMID><DateCreated><Year>2017</Year><Month>02</Month><Day>03</Day></DateCreated><DateRevised><Year>2017</Year><Month>04</Month><Day>09</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1558-1497</ISSN><JournalIssue CitedMedium="Internet"><Volume>53</Volume><PubDate><Year>2017</Year><Month>May</Month></PubDate></JournalIssue><Title>Neurobiology of aging</Title><ISOAbbreviation>Neurobiol. Aging</ISOAbbreviation></Journal><ArticleTitle>RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.</ArticleTitle><Pagination><MedlinePgn>194.e9-194.e11</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0197-4580(17)30006-4</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.neurobiolaging.2017.01.005</ELocationID><Abstract><AbstractText>Variants in the RIC3 gene have recently been suggested as a novel cause of Parkinson's disease (PD). Herein, the entire RIC3 gene was sequenced in a French-Canadian and French sample series of 535 PD patients and 527 unaffected controls. The effect of single variants and the combined effect of variants were calculated. Sequence Kernel association tests (SKAT, SKAT-O) were done on the entire gene level, and on the different domains and exons of RIC3. A total of 28 common and rare variants were identified in patients and controls. No significant association was found between any variant and haplotype in RIC3 and PD, and there was no over-representation of RIC3 variants at the entire gene, domain, or exon levels in patients versus controls. Our results do not support a role for RIC3 mutations as a common cause of PD in the French-Canadian and French populations.</AbstractText><CopyrightInformation>Copyright © 2017 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Jay P</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dupré</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Division of Neurology, CHU de Québec, Faculty of Medicine, Laval University, Quebec City, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dauvilliers</LastName><ForeName>Yves</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology, Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strong</LastName><ForeName>Stephanie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dionne-Laporte</LastName><ForeName>Alexandre</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dion</LastName><ForeName>Patrick A</ForeName><Initials>PA</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rouleau</LastName><ForeName>Guy A</ForeName><Initials>GA</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gan-Or</LastName><ForeName>Ziv</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. 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