RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.
Identifieur interne : 000005 ( France/Analysis ); précédent : 000004; suivant : 000006RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.
Auteurs : Jay P. Ross [Canada] ; Nicolas Dupré [Canada] ; Yves Dauvilliers [France] ; Stephanie Strong [Canada] ; Alexandre Dionne-Laporte [Canada] ; Patrick A. Dion [Canada] ; Guy A. Rouleau [Canada] ; Ziv Gan-Or [Canada]Source :
- 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
Affiliations:
- Canada, France
- Languedoc-Roussillon, Occitanie (région administrative), Québec
- Montpellier, Montréal
- Université McGill
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pubmed:28153381Le document en format XML
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Ross</name><affiliation wicri:level="4"><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><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec</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="Dupré">Nicolas Dupré</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, CHU de Québec, Faculty of Medicine, Laval University, Quebec City, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, CHU de Québec, Faculty of Medicine, Laval University, Quebec City, Québec</wicri:regionArea><wicri:noRegion>Québec</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>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><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec</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>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><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec</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>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><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec</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, 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><country xml:lang="fr">Canada</country><wicri:regionArea>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</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 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><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec</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="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><affiliations><list><country><li>Canada</li><li>France</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="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="Dupré">Nicolas Dupré</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="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</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></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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