{"id":643,"date":"2014-03-25T19:31:58","date_gmt":"2014-03-25T19:31:58","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=643"},"modified":"2026-02-25T19:49:06","modified_gmt":"2026-02-25T19:49:06","slug":"genome-wide-association-study-identifies-new-disease-loci-for-isolated-clubfoot","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/03\/25\/genome-wide-association-study-identifies-new-disease-loci-for-isolated-clubfoot\/","title":{"rendered":"Genome-wide association study identifies new disease loci for isolated clubfoot (Contributed by Dr. Christina A Gurnett)"},"content":{"rendered":"<p>Clubfoot is a common congenital birth defect that affects nearly 1 in 1000 births.\u00a0 To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of 396 isolated clubfoot patients and 1000 controls of European descent.\u00a0 Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 that was also significant on replication.\u00a0 Additional suggestive SNPs were identified near FOXN3, SORCS1, and MMP7\/TMEM123 that also confirmed on replication.\u00a0 Our report suggests a potential role for common genetic variation in several genes that have not previously been implicated in clubfoot pathogenesis. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/03\/25\/jmedgenet-2014-102303\">http:\/\/jmg.bmj.com\/content\/early\/2014\/03\/25\/jmedgenet-2014-102303<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Clubfoot is a common congenital birth defect that affects nearly 1 in 1000 births.\u00a0 To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of 396 isolated clubfoot patients and 1000 controls of European descent.\u00a0 Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/03\/25\/genome-wide-association-study-identifies-new-disease-loci-for-isolated-clubfoot\/\">Read More&#8230;<\/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-643","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - 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