Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population.

摘要: Non-syndromic cleft lip with or without palate (NSCL/P) is a common birth defect. Several WNT genes are involved in craniofacial embryogenesis, and therefore may play an important role the etiology of NSCL/P. Two SNPs (rs3809857 rs9890413) WNT3 gene were subjected to case-control case-parent analysis by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) 236 unrelated patients NSCL/P, including 128 elementary families (185 mothers 154 fathers), 400 control individuals from northeast China. The rs3809857 SNP, under assumption dominant model, was found induce 2-fold lower risk NSCL/P ORGG vs GT + TT = 0.605, 95%CI 0.436-0.839, P 0.003). Moreover, family-based association test revealed under-transmission for minor allele T. On other hand, we observed significant SNP rs9890413. In addition, values haplotype rs3809857-rs9890413 be statistically (P 0.004). conclusion, our study confirmed between variant population tested.