Association of the Wnt3 Variations and the Risk of Non-Syndromic Cleft Lip and Palate in A Population of Iranian Infants

Background: nonsyndromic cleft lip and/or palate (nscl/p) is the most common orofacial birth defect, often attributed to ethnic and environmental differences. up to now, linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for nscl/p. the wnt genes including wnt3 are strong candidates for nscl/p, since they are involved in regulating mid-face development and upper lip fusion. this study tested association of the wnt3 polymorphisms, rs- 3809857 g/t and rs9890413 g/a, with the risk of nscl/p in a population of iranian infants. methods: the allelic and genotypic frequencies for each participant were determined in 113 unrelated iranian subjects with nscl/p and 220 control subjects using pcr and restriction fragment length polymorphism (rflp) methods. a p-value of 0.05 was considered statistically significant. results: the wnt3 rs3809857 gt genotype was significantly lower (p=0.039, or=0.55, 95% ci=0.30-0.97) in the nscl/p (21.2%) than the control group (30.42%). for the wnt3 rs9890413 g/a polymorphism, neither genotype nor allele frequencies were significantly different between the case and control groups. conclusion: our results indicated that the wnt3 rs3809857 gt genotype may have a protective effect against nscl/p in iranian population.