Association of CDH1 promoter polymorphism and the risk of non-syndromic orofacial clefts in a Chinese Han population

ObjectiveCDH1 plays a key role in cell adhesion, which is vital to normal craniofacial morphogenesis and palatal fusion. It is therefore attractive as a candidate gene for non-syndromic orofacial clefts (NSOC). The SNP rs16260 (C > A), locating upstream of the transcriptional start site of CDH1 promoter, has a significant effect on transcriptional activity and CDH1 expression. The aim of this study was to determine the association of rs16260 with risk of NSOC and its subgroups in a Chinese Han population.Materials and methods140 NSOC cases and 107 healthy individuals were recruited in the present study. The SNP rs16260 was genotyped by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP).ResultsThe genotype distributions of rs16260 in controls were consistent with Hardy–Weinberg equilibrium test. Lack of association was found between rs16260 and risk of NSOC. 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.ConclusionsCDH1 promoter SNP rs16260 may contribute to risk of CPO in a Chinese Han population.