{"id":409,"date":"2012-11-17T19:41:07","date_gmt":"2012-11-17T19:41:07","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=409"},"modified":"2026-02-25T20:26:21","modified_gmt":"2026-02-25T20:26:21","slug":"identification-of-a-functional-variant-in-the-kif5a-cyp27b1-mettl1-fam119b-locus-associated-with-multiple-sclerosis","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr Antonio Alcina)"},"content":{"rendered":"

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. (http:\/\/jmg.bmj.com\/content\/early\/2012\/11\/16\/jmedgenet-2012-101085<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-409","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nIdentification of a functional variant in the KIF5A- CYP27B1- METTL1- FAM119B locus associated with Multiple Sclerosis (Contributed by Dr Antonio Alcina) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2012\/11\/17\/identification-of-a-functional-variant-in-the-kif5a-cyp27b1-mettl1-fam119b-locus-associated-with-multiple-sclerosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Identification of a functional variant in the KIF5A- CYP27B1- METTL1- FAM119B locus associated with Multiple Sclerosis (Contributed by Dr Antonio Alcina) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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). 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