IRF6 is a Risk Factor for Nonsyndromic Cleft Lip in the

librium (LD), in patients from five different Brazilian locations. We also evaluated the effect of these SNPs in IRF6 expression in mesenchymal stem cells (MSC). We observed association between rs642961 and cleft lip only (CLO) (P ¼ 0.009; odds ratio (OR) for AA genotype ¼ 1.83 [95% Confidence interval (CI), 0.64–5.31]; OR for AG genotype ¼ 1.72 [95% CI, 1.03–2.84]). This association seems to be driven by the affected patients from Barbalha, a location which presents the highest heritability estimate (H 2 ¼ 0.85), and the A allele at rs642961 is acting through a dominant model. No association was detected for the SNP rs590223. We did not find any correlation between expression levels and genotypes of the two loci, and it is possible that these SNPs have a functional role in some specific period of embryogenesis. 2012 Wiley Periodicals, Inc.