{"id":9934,"date":"2021-01-06T00:03:16","date_gmt":"2021-01-06T05:03:16","guid":{"rendered":"https:\/\/nebula.org\/blog\/genetique-de-sclerose-systemique-lopez-isac-2019\/"},"modified":"2021-02-20T20:42:04","modified_gmt":"2021-02-21T01:42:04","slug":"genetique-de-sclerose-systemique-lopez-isac-2019","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/fr\/genetique-de-sclerose-systemique-lopez-isac-2019\/","title":{"rendered":"Scl\u00e9rose syst\u00e9mique (L\u00f3pez-Isac, 2019)"},"content":{"rendered":"\n<p><strong>TITRE DE L&rsquo;\u00c9TUDE:<\/strong><a href=\"https:\/\/www.nature.com\/articles\/s41467-019-12760-y\"> GWAS pour la scl\u00e9rose syst\u00e9mique identifie les locus de risque multiples et met en \u00e9vidence les voies de fibrose et de vasculopathie<\/a><\/p>\n\n<p><strong>SOMMAIRE:<\/strong> D\u00e9couverte de 13 nouvelles variantes g\u00e9n\u00e9tiques associ\u00e9es au d\u00e9veloppement de la scl\u00e9rose syst\u00e9mique.<\/p>\n\n<p><strong>APER\u00c7U:<\/strong> Normalement, le syst\u00e8me immunitaire prot\u00e8ge le corps contre les agents pathog\u00e8nes \u00e9trangers tels que les bact\u00e9ries et les virus. Les maladies auto-immunes surviennent lorsque le syst\u00e8me immunitaire attaque par erreur les propres cellules et organes du corps. L&rsquo;une des maladies auto-immunes les plus d\u00e9bilitantes est la scl\u00e9rose syst\u00e9mique, qui provoque des cicatrices de la peau et des organes internes. Au fil du temps, cette cicatrisation limite lentement la capacit\u00e9 de fonctionnement des organes et est particuli\u00e8rement pr\u00e9judiciable aux poumons et aux vaisseaux sanguins. Cette \u00e9tude a tent\u00e9 d&rsquo;identifier des variantes g\u00e9n\u00e9tiques qui contribuent au risque d&rsquo;une personne de d\u00e9velopper une scl\u00e9rose syst\u00e9mique. En examinant les donn\u00e9es g\u00e9n\u00e9tiques de pr\u00e8s de 27 000 individus d&rsquo;ascendance europ\u00e9enne, 27 variantes g\u00e9n\u00e9tiques en corr\u00e9lation significative avec le risque de scl\u00e9rose syst\u00e9mique ont \u00e9t\u00e9 identifi\u00e9es. Parmi ceux-ci, 13 ont \u00e9t\u00e9 d\u00e9couverts r\u00e9cemment. Un variant identifi\u00e9 a \u00e9t\u00e9 localis\u00e9 dans DDX6, un g\u00e8ne qui jouait auparavant un r\u00f4le dans le d\u00e9veloppement des vaisseaux sanguins.<\/p>\n\n<p><strong>LE SAVIEZ-VOUS?<\/strong> La scl\u00e9rose syst\u00e9mique peut provoquer un durcissement de la peau et une raideur des articulations, rendant les mouvements extr\u00eamement douloureux. Pour maintenir la flexibilit\u00e9, un exercice r\u00e9gulier est recommand\u00e9.<a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/scleroderma\/diagnosis-treatment\/drc-20351957\" target=\"_blank\" rel=\"noreferrer noopener\" aria-label=\"  (opens in a new tab)\"> [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=\"http:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/01\/Nebula-personalized-results-genomics-1024x375.png\" alt=\"\" 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 ASSOCI\u00c9ES \u00c0 LA SCL\u00c9ROSE:<\/strong> rs3821236, rs36073657, rs2736340, rs4853458, rs11117420, rs1378942, rs12155080, rs3792783, rs2056626, rs11217020, rs11724804, rs4076852, rs9884090, rs589446, rs2651804, rs3790566, rs2305743, rs633724, rs883770, rs1857066, rs16832798, rs230534, rs7355798, rs1005714, rs6598008, rs685985, rs2022449<\/p>\n\n<p><strong>RESSOURCES ADDITIONNELLES:<\/strong><br\/><a href=\"https:\/\/www.youtube.com\/watch?v=Zj3RxtJ_Ljc\">Maladies auto-immunes<\/a><br\/><a href=\"https:\/\/scienceofparkinsons.com\/dopamine\/\">Scl\u00e9rose syst\u00e9mique<\/a><\/p>\n\n<p><strong>MISE \u00c0 JOUR HEBDOMADAIRE:<\/strong> 9 novembre 2019<br\/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>TITRE DE L&rsquo;\u00c9TUDE: GWAS pour la scl\u00e9rose syst\u00e9mique identifie les locus de risque multiples et met en \u00e9vidence les voies de fibrose et de vasculopathie SOMMAIRE: D\u00e9couverte de 13 nouvelles variantes g\u00e9n\u00e9tiques associ\u00e9es au d\u00e9veloppement de la scl\u00e9rose syst\u00e9mique. APER\u00c7U: &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/fr\/genetique-de-sclerose-systemique-lopez-isac-2019\/\"> <span class=\"screen-reader-text\">Scl\u00e9rose syst\u00e9mique (L\u00f3pez-Isac, 2019)<\/span> Lire la suite \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":5355,"comment_status":"closed","ping_status":"open","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":"","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-9934","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rapports"],"yoast_head":"<!-- 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He earned an M.S. and is currently a Ph.D. Candidate in the Biological and Biomedical Sciences (BBS) Ph.D. program at Harvard University.\u00a0He has experience in science policy as an intern at the Science and Innovation Network where he assisted in the science diplomacy functions of the British Consulate-General and as a research associate at TScan Therapeutics. He is also interested in science communication and writing. You can read more about Garrett's experience and publications on LinkedIn and ORCID.","sameAs":["https:\/\/nebula.org\/whole-genome-sequencing\/"],"url":"https:\/\/nebula.org\/blog\/fr\/author\/garrett-dunlap\/"}]}},"_links":{"self":[{"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/posts\/9934","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/comments?post=9934"}],"version-history":[{"count":0,"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/posts\/9934\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/media\/5355"}],"wp:attachment":[{"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/media?parent=9934"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/categories?post=9934"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/nebula.org\/blog\/fr\/wp-json\/wp\/v2\/tags?post=9934"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}