{"id":4682,"date":"2020-12-23T18:54:09","date_gmt":"2020-12-23T23:54:09","guid":{"rendered":"https:\/\/ccna-ccnv.ca\/ccna_publication\/association-study-of-dnajc13-uchl1-htra2-gigyf2-and-eif4g1-with-parkinsons-disease-2\/"},"modified":"2024-12-03T14:57:22","modified_gmt":"2024-12-03T19:57:22","slug":"association-study-of-dnajc13-uchl1-htra2-gigyf2-and-eif4g1-with-parkinsons-disease-2","status":"publish","type":"ccna_publication","link":"https:\/\/ccna-ccnv.ca\/fr\/ccna_publication\/association-study-of-dnajc13-uchl1-htra2-gigyf2-and-eif4g1-with-parkinsons-disease-2\/","title":{"rendered":"Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson&rsquo;s disease"},"content":{"rendered":"<h2 class=\"title\">Abstract<\/h2>\n<div id=\"enc-abstract\" class=\"abstract-content selected\">\n<p>Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson&rsquo;s disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conflicting results across cohorts. However, they are still being often referred to as \u00ab\u00a0PD genes\u00a0\u00bb and used in different models. To further elucidate the role of these 5 genes in PD, we fully sequenced them using molecular inversion probes in 2408 patients with PD and 3444 controls from 3 different cohorts. A total of 788 rare variants were identified across the 5 genes and 3 cohorts. Burden analyses and optimized sequence Kernel association tests revealed no significant association between any of the genes and PD after correction for multiple comparisons. Our results do not support an association of the 5 tested genes with PD. Combined with previous studies, it is unlikely that any of these genes plays an important role in PD. Their designation as \u00ab\u00a0PARK\u00a0\u00bb genes should be reconsidered.<\/p>\n<\/div>\n","protected":false},"author":19,"featured_media":0,"template":"","meta":{"_acf_changed":false},"studies-relation":[],"class_list":["post-4682","ccna_publication","type-ccna_publication","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson&#039;s 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\/association-study-of-dnajc13-uchl1-htra2-gigyf2-and-eif4g1-with-parkinsons-disease-2\/\" \/>\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson&#039;s disease - 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