When all cleft cases were subsequently stratified into four groups (i.e. cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (CPO) groups were significantly different with those in the controls (P=0.004) and rs16260 AA genotype significantly increased the risk of CPO by 5.90-fold (OR=6.90, 95% CI=1.47-32.40), providing the first evidence of CDH1 genetic variation in the etiology of CPO.
Comparison between cleft and control groups showed a trend for association for AXIN2 with incomplete cleft palate (p = .006) and CDH1 with unilateral CL/P (p = .03 for left CL/P and p = .04 for right CL/P).