{"id":409,"date":"2012-11-17T19:41:07","date_gmt":"2012-11-17T19:41:07","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=409"},"modified":"2012-11-17T19:41:07","modified_gmt":"2012-11-17T19:41:07","slug":"identification-of-a-functional-variant-in-the-kif5a-cyp27b1-mettl1-fam119b-locus-associated-with-multiple-sclerosis","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/11\/17\/identification-of-a-functional-variant-in-the-kif5a-cyp27b1-mettl1-fam119b-locus-associated-with-multiple-sclerosis\/","title":{"rendered":"Identification of a functional variant in the KIF5A- CYP27B1- METTL1- FAM119B locus associated with Multiple Sclerosis"},"content":{"rendered":"<p>Several polymorphisms localized in a region of chromosome 12 (12q13.3-12q14.1) have been associated with celiac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS). This study was focused in finding the causal variant in a sample set of 2876 MS patients and 2910 controls. We uncover a new polymorphism associated with the disease, exhibiting allele and orientation-dependent enhancer activity, potentially affecting the expression of four genes, amongst them the CYP27B1, involved in the last stage of vitamin D activation. We think this new functional genetic element may help in the fight against MS and other autoimmune diseases. (By Dr Antonio Alcina, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2012\/11\/16\/jmedgenet-2012-101085\">http:\/\/jmg.bmj.com\/content\/early\/2012\/11\/16\/jmedgenet-2012-101085<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Several polymorphisms localized in a region of chromosome 12 (12q13.3-12q14.1) have been associated with celiac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS). This study was focused in finding the causal variant in a sample set of 2876 MS patients and 2910 controls. We uncover a new polymorphism associated with the disease, exhibiting [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/11\/17\/identification-of-a-functional-variant-in-the-kif5a-cyp27b1-mettl1-fam119b-locus-associated-with-multiple-sclerosis\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-409","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/409","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=409"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/409\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=409"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=409"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=409"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}