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6 juillet 2020
- handle: 10670/1.m3tb9m
- doi: 10.1212/NXG.0000000000000385
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. , http://creativecommons.org/licenses/by/4.0/
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Uladzislau Rudakou et al., « Analysis of common and rare VPS13C variants in late-onset Parkinson disease », Papyrus : le dépôt institutionnel de l'Université de Montréal, ID : 10.1212/NXG.0000000000000385
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Objective 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]