{"id":4487,"date":"2020-05-29T20:45:27","date_gmt":"2020-05-30T00:45:27","guid":{"rendered":"https:\/\/ccna-ccnv.ca\/ccna_publication\/analysis-of-common-and-rare-vps13c-variants-in-late-onset-parkinson-disease-2\/"},"modified":"2024-12-03T14:56:49","modified_gmt":"2024-12-03T19:56:49","slug":"analysis-of-common-and-rare-vps13c-variants-in-late-onset-parkinson-disease-2","status":"publish","type":"ccna_publication","link":"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/analysis-of-common-and-rare-vps13c-variants-in-late-onset-parkinson-disease-2\/","title":{"rendered":"Analysis of common and rare VPS13C variants in late-onset Parkinson disease"},"content":{"rendered":"<h2>Abstract<\/h2>\n<div id=\"sec-1\" class=\"subsection\">\n<p id=\"p-886\"><strong>Objective<\/strong>\u00a0We aimed to study the role of coding\u00a0<em>VPS13C<\/em>\u00a0variants in a large cohort of patients with late-onset Parkinson disease (PD) (LOPD).<\/p>\n<\/div>\n<div id=\"sec-2\" class=\"subsection\">\n<p id=\"p-887\"><strong>Methods<\/strong>\u00a0<em>VPS13C<\/em>\u00a0and 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.<\/p>\n<\/div>\n<div id=\"sec-3\" class=\"subsection\">\n<p id=\"p-888\"><strong>Results<\/strong>\u00a0No biallelic carriers of rare\u00a0<em>VPS13C<\/em>\u00a0variants 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] &lt;1%) or very rare (MAF &lt;0.1%) coding\u00a0<em>VPS13C<\/em>\u00a0variants in PD. A\u00a0<em>VPS13C<\/em>\u00a0haplotype 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\u20130.82,\u00a0<em>p<\/em>\u00a0= 0.0052]). This haplotype was not in linkage disequilibrium with the known genome-wide association study top hit.<\/p>\n<\/div>\n<div id=\"sec-4\" class=\"subsection\">\n<p id=\"p-889\"><strong>Conclusions<\/strong>\u00a0Our results do not support a role for rare heterozygous or biallelic\u00a0<em>VPS13C<\/em>\u00a0variants 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.<\/p>\n<\/div>\n","protected":false},"author":19,"featured_media":0,"template":"","meta":{"_acf_changed":false},"studies-relation":[],"class_list":["post-4487","ccna_publication","type-ccna_publication","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Analysis of common and rare VPS13C variants in late-onset Parkinson disease - CCNA - CCNV<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/analysis-of-common-and-rare-vps13c-variants-in-late-onset-parkinson-disease-2\/\" \/>\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Analysis of common and rare VPS13C variants in late-onset Parkinson disease - 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