Table 1.
Baseline clinical characteristics of the Brazilian population.
Table 2.
Details of the SNPs investigated in this study.
Table 3.
Results of linkage disequilibrium analyses for the investigated markers in the Brazilian Caucasian population (406 cases and 285 controls).
Table 4.
Summary of the association analysis in Brazilian Caucasians according to each cleft subphenotype.
Table 5.
Summary of the association analysis in Brazilian Caucasians according to each cleft subphenotype with dental anomalies.
Table 6.
Results for interaction of TGFA C3827T and IRF6 V274I marker alleles in the Brazilian Caucasian cases (N = 406) and controls (N = 285).
Table 7.
Results of interaction analyses of associated TGFA and IRF6 marker alleles in the family dataset (861 simplex and multiplex families) comprising 7047 people stratified by population origin and cleft types.
Table 8.
Summary of the analysis with the Latvian cases (N = 154) with cleft lip/palate and 30 case-parent trios (90 individuals) from CEPH.
Figure 1.
Loss of Tgfa expression in embryos that lack Irf6.
Expression of Tgfa (A,A′), Irf6 (B, B′) and merge (C, C′) in coronal sections of E14.5 wild type murine embyos. Tgfa and Irf6 expression colocalized to oral and nasal epithelium and remaining medial edge epithelium. Magnification was 10× (A–C) and 40× (A′–C′) for boxed regions in panels A–C. No expression was observed for Tgfa and Irf6 in coronal sections of E14.5 embryos that lack Irf6 (D). Regions of higher magnification are indicated (D′, D′′). Abbreviations are palate (p), tongue (t), nasal septum (ns).
Figure 2.
Loss of Tgfa, but not Twist, expression in embryos that lack Irf6.
Expression of Tgfa (A,A′), Twist (B, B′) and merge (C, C′) in coronal sections of E13.5 wild type murine embyos. Tgfa and Twist expression colocalized to all oral epithelial surfaces of palate (p), tongue (t) and nasal septum (ns). Magnification was 10× (A–C) and 40× (A′–C′) for boxed regions in panels A–C. No expression was observed for Tgfa in coronal sections of E13.5 embryos that lack Irf6 (D, F), but Twist expression was not affected (E, F). Regions of higher magnification are indicated (D′–F′)). Abbreviations are palate (p), tongue (t), nasal septum (ns).