{"id":9797,"date":"2021-01-06T00:00:57","date_gmt":"2021-01-06T05:00:57","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetique-du-syndrome-des-jambes-sans-repos-winkelmann-2011\/"},"modified":"2021-02-20T20:39:17","modified_gmt":"2021-02-21T01:39:17","slug":"genetique-du-syndrome-des-jambes-sans-repos-winkelmann-2011","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/fr\/genetique-du-syndrome-des-jambes-sans-repos-winkelmann-2011\/","title":{"rendered":"Syndrome des jambes sans repos (Winkelmann, 2011)"},"content":{"rendered":"\n<p><strong>TITRE DE L&rsquo;\u00c9TUDE:<\/strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3136436\/\"> Une \u00e9tude d&rsquo;association pang\u00e9nomique identifie de nouveaux locus de sensibilit\u00e9 au syndrome des jambes sans repos sur 2p14 et 16q12.1<\/a><\/p>\n\n<p><strong>SOMMAIRE:<\/strong> Le syndrome des jambes sans repos est associ\u00e9 \u00e0 des variantes proches du g\u00e8ne MEIS1 et du g\u00e8ne TOX3.<\/p>\n\n<p><strong>LA DESCRIPTION:<\/strong> Le syndrome des jambes sans repos provoque des sensations inconfortables dans les jambes et des envies irr\u00e9sistibles de les bouger. Cela affecte le plus souvent le patient la nuit, ce qui rend difficile une bonne nuit de sommeil. Alors que des \u00e9tudes ant\u00e9rieures \u00e0 l&rsquo;\u00e9chelle du g\u00e9nome ont d\u00e9couvert des variantes corr\u00e9l\u00e9es \u00e0 cette condition, elles n&rsquo;expliquent pas toute l&rsquo;h\u00e9ritabilit\u00e9 de celle-ci. Cette \u00e9tude d&rsquo;association pang\u00e9nomique a identifi\u00e9 des variantes g\u00e9n\u00e9tiques li\u00e9es \u00e0 ce syndrome en \u00e9tudiant 2448 individus d&rsquo;ascendance europ\u00e9enne. Deux variantes g\u00e9n\u00e9tiques se sont r\u00e9v\u00e9l\u00e9es hautement significatives &#8211; l&rsquo;une dans un intron (r\u00e9gion non codante) pr\u00e8s du g\u00e8ne MEIS1 et l&rsquo;autre dans le g\u00e8ne TOX3. Le produit du g\u00e8ne TOX3 est impliqu\u00e9 dans le d\u00e9roulement de l&rsquo;ADN pour activer d&rsquo;autres g\u00e8nes. Le g\u00e8ne MEIS1 code une prot\u00e9ine qui r\u00e9gule l&rsquo;activit\u00e9 d&rsquo;autres g\u00e8nes et est n\u00e9cessaire \u00e0 la production de cellules sanguines.<\/p>\n\n<p><strong>LE SAVIEZ-VOUS?<\/strong> En plus de prendre des m\u00e9dicaments, les sympt\u00f4mes de ce syndrome peuvent \u00eatre att\u00e9nu\u00e9s en prenant des bains chauds, en massant les muscles de vos jambes, en faisant de l&rsquo;exercice, en \u00e9vitant la caf\u00e9ine et en ayant un bon horaire de sommeil. [<a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/restless-legs-syndrome\/diagnosis-treatment\/drc-20377174\"> LA SOURCE<\/a> ]<\/p>\n\n<p><strong>EXEMPLE DE R\u00c9SULTATS:<\/strong> En savoir plus sur<a href=\"https:\/\/nebula.org\/blog\/fr\/recherche-genetique-deblocage-bibliotheque-nebuleuse\/\"> Biblioth\u00e8que de recherche sur la n\u00e9buleuse<\/a> .<\/p>\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/nebula.org\/free-dna-upload-analysis\/\"><img decoding=\"async\" width=\"1024\" height=\"375\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png\" alt=\"Exemple de r&#xE9;sultats personnalis&#xE9;s sur Nebula\" class=\"wp-image-1066\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png 1024w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-300x110.png 300w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-768x281.png 768w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1536x562.png 1536w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics.png 924w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n<p><\/p>\n\n<p><strong>VARIANTES ASSOCIES AUX JAMBES SANS RACCORD:<\/strong> rs2300478, rs12593813, rs9357271, rs3104767, rs6747972, rs1975197<\/p>\n\n<p><strong>RESSOURCES ADDITIONNELLES:<\/strong> <br\/><a href=\"https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Restless-Legs-Syndrome-Fact-Sheet\">Fiches d&rsquo;information sur le syndrome des jambes sans repos<\/a><br\/><a href=\"https:\/\/www.dnalc.org\/view\/15549-Transcription-translation-Exons-and-introns.html\">Exons et introns<\/a><\/p>\n\n<p><strong>MISE \u00c0 JOUR HEBDOMADAIRE:<\/strong> 23 juillet 2019<\/p>\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>TITRE DE L&rsquo;\u00c9TUDE: Une \u00e9tude d&rsquo;association pang\u00e9nomique identifie de nouveaux locus de sensibilit\u00e9 au syndrome des jambes sans repos sur 2p14 et 16q12.1 SOMMAIRE: Le syndrome des jambes sans repos est associ\u00e9 \u00e0 des variantes proches du g\u00e8ne MEIS1 et &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/fr\/genetique-du-syndrome-des-jambes-sans-repos-winkelmann-2011\/\"> <span class=\"screen-reader-text\">Syndrome des jambes sans repos (Winkelmann, 2011)<\/span> Lire la suite \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":5570,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[4984],"tags":[],"class_list":["post-9797","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rapports"],"yoast_head":"<!-- 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