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

Genet Mol Res. 2015 Oct 19;14(4):12646-53. doi: 10.4238/2015.October.19.8.

Abstract

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

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asian People / genetics
  • Brain / abnormalities*
  • Case-Control Studies
  • China / epidemiology
  • Cleft Lip / epidemiology
  • Cleft Lip / genetics*
  • Cleft Palate / epidemiology
  • Cleft Palate / genetics*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Haplotypes
  • Humans
  • Incidence
  • Male
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Wnt3 Protein / genetics*

Substances

  • WNT3 protein, human
  • Wnt3 Protein

Supplementary concepts

  • Orofacial Cleft 1