Genome-wide association study identifies new disease loci for isolated clubfoot

Clubfoot is a common congenital birth defect that affects nearly 1 in 1000 births.  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.  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.  Additional suggestive SNPs were identified near FOXN3, SORCS1, and MMP7/TMEM123 that also confirmed on replication.  Our report suggests a potential role for common genetic variation in several genes that have not previously been implicated in clubfoot pathogenesis. (By Dr. Christina A Gurnett, http://jmg.bmj.com/content/early/2014/03/25/jmedgenet-2014-102303 )

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