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dc.contributor.authorRudakou, Uladzislau
dc.contributor.authorRuskey, Jennifer A.
dc.contributor.authorKrohn, Lynne
dc.contributor.authorLaurent, Sandra B.
dc.contributor.authorSpiegelman, Dan
dc.contributor.authorGreenbaum, Lior
dc.contributor.authorYahalom, Gilad
dc.contributor.authorDesautels, Alex
dc.contributor.authorMontplaisir, Jacques-Yves
dc.contributor.authorFahn, Stanley
dc.contributor.authorWaters, Cheryl
dc.contributor.authorLevy, Oren
dc.contributor.authorKehoe, Caitlin M.
dc.contributor.authorNarayan, Sushma
dc.contributor.authorDauvilliers, Yves
dc.contributor.authorDupré, Nicolas
dc.contributor.authorHassin-Baer, Sharon
dc.contributor.authorAlcalay, Roy N.
dc.contributor.authorRouleau, Guy
dc.contributor.authorFon, Edward A.
dc.contributor.authorGan-Or, Ziv
dc.date.accessioned2020-07-06T15:28:01Z
dc.date.availableNO_RESTRICTIONfr
dc.date.available2020-07-06T15:28:01Z
dc.date.issued2020-01-09
dc.identifier.urihttp://hdl.handle.net/1866/23693
dc.publisherLippincott, Williams and Wilkinsfr
dc.rightsCe document est mis à disposition selon les termes de la Licence Creative Commons Paternité 4.0 International. / This work is licensed under a Creative Commons Attribution 4.0 International License.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleAnalysis of common and rare VPS13C variants in late-onset Parkinson diseasefr
dc.typeArticlefr
dc.contributor.affiliationUniversité de Montréal. Faculté de médecine. Département de psychiatriefr
dc.identifier.doi10.1212/NXG.0000000000000385
dcterms.abstractObjective We aimed to study the role of coding VPS13C variants in a large cohort of patients with lateonset Parkinson disease (PD) (LOPD). Methods VPS13C and its untranslated regions were sequenced using targeted next-generation sequencing in 1,567 patients with PD and 1,667 controls from 3 cohorts. Association tests of rare potential homozygous and compound heterozygous variants and burden tests for rare heterozygous variants were performed. Common variants were analyzed using logistic regression adjusted for age and sex in each of the cohorts, followed by a meta-analysis. Results No biallelic carriers of rare VPS13C variants were found among patients, and 2 carriers of compound heterozygous variants were found in 2 controls. There was no statistically significant burden of rare (minor allele frequency [MAF] <1%) or very rare (MAF <0.1%) coding VPS13C variants in PD. A VPS13C haplotype including the p.R153H-p.I398I-p.I1132V-p.Q2376Q variants was nominally associated with a reduced risk for PD (meta-analysis of the tagging SNP p.I1132V [odds ratio = 0.48, 95% confidence interval = 0.28–0.82, p = 0.0052]). This haplotype was not in linkage disequilibrium with the known genome-wide association study top hit. Conclusions Our results do not support a role for rare heterozygous or biallelic VPS13C variants in LOPD. Additional genetic replication and functional studies are needed to examine the role of the haplotype identified here associated with reduced risk for PD.fr
dcterms.isPartOfurn:ISSN:2376-7839fr
dcterms.languageengfr
UdeM.ReferenceFournieParDeposantRudakou, U., Ruskey, J. A., Krohn, L., Laurent, S. B., Spiegelman, D., Greenbaum, L., ... & Waters, C. H. (2020). Analysis of common and rare VPS13C variants in late-onset Parkinson disease. Neurology Genetics, 6(1).fr
UdeM.VersionRioxxVersion publiée / Version of Recordfr
oaire.citationTitleNeurology genetics
oaire.citationVolume6


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Ce document est mis à disposition selon les termes de la Licence Creative Commons Paternité 4.0 International. / This work is licensed under a Creative Commons Attribution 4.0 International License.
RightsCe document est mis à disposition selon les termes de la Licence Creative Commons Paternité 4.0 International. / This work is licensed under a Creative Commons Attribution 4.0 International License.