rs2235371

Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population. Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population. Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population.