{"id":698,"date":"2014-11-12T20:31:04","date_gmt":"2014-11-12T20:31:04","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=698"},"modified":"2014-11-12T20:31:04","modified_gmt":"2014-11-12T20:31:04","slug":"next-generation-sequencing-of-nine-atrial-fibrillation-candidate-genes-identified-novel-de-novo-mutations-in-patients-with-extreme-trait-of-atrial-fibrillation","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/11\/12\/next-generation-sequencing-of-nine-atrial-fibrillation-candidate-genes-identified-novel-de-novo-mutations-in-patients-with-extreme-trait-of-atrial-fibrillation\/","title":{"rendered":"Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation"},"content":{"rendered":"<p>Atrial fibrillation (AF) is the most common arrhythmia and a hereditary disease. AF may be caused by the joint effect of many or several common genetic variations or variants. Genome-wide association studies (GWAS) have identified common genetic variants in several genes associated with AF<strong>. <\/strong>Recent studies also suggest that rare genetic variants or mutations may also cause AF. Such rare variants may have a large effect and therefore we hypothesized that these rare variants are enriched in patients with severe symptoms. Importantly, we also hypothesized that rare variants and GWAS-defined common variants might locate in the same gene. We used next-generation sequencing to in-depth sequence all the AF genes in which there are GWAS-identified common variants, in carefully selected patients with extremely symptomatic AF patients. We proved our hypothesis, and identified 6 novel mutations, one of which we proved significantly affected PITX2 gene (the most important AF gene) expression. (By Dr. Chia-Ti Tsai, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/11\/12\/jmedgenet-2014-102618\">http:\/\/jmg.bmj.com\/content\/early\/2014\/11\/12\/jmedgenet-2014-102618<\/a> )<a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2014\/11\/First-author-CTT-photo.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-699\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2014\/11\/First-author-CTT-photo-300x298.jpg\" alt=\"First author (CTT) photo\" width=\"300\" height=\"298\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2014\/11\/First-author-CTT-photo-300x298.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2014\/11\/First-author-CTT-photo-150x150.jpg 150w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2014\/11\/First-author-CTT-photo-1024x1019.jpg 1024w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2014\/11\/First-author-CTT-photo.jpg 1260w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Atrial fibrillation (AF) is the most common arrhythmia and a hereditary disease. AF may be caused by the joint effect of many or several common genetic variations or variants. Genome-wide association studies (GWAS) have identified common genetic variants in several genes associated with AF. Recent studies also suggest that rare genetic variants or mutations may [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/11\/12\/next-generation-sequencing-of-nine-atrial-fibrillation-candidate-genes-identified-novel-de-novo-mutations-in-patients-with-extreme-trait-of-atrial-fibrillation\/\">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-698","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\/698","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=698"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/698\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=698"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=698"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=698"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}