Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis

Clin Genet. 2013 Nov;84(5):429-40. doi: 10.1111/cge.12061. Epub 2012 Dec 7.


Tooth agenesis is one of the most common dental anomalies, with a complex and not yet fully elucidated aetiology. Given the crucial role of the Wnt signalling pathway during tooth development, the purpose of this study was to determine whether nucleotide variants of genes encoding components of this signalling pathway might be associated with hypodontia and oligodontia in the Polish population. A set of 34 single nucleotide polymorphism (SNPs) in 13 WNT and WNT-related genes were analyzed in a group of 157 patients with tooth agenesis and a properly matched control group (n = 430). In addition, direct sequencing was performed to detect mutations in the MSX1, PAX9 and WNT10A genes. Both single-marker and haplotype analyses showed highly significant association between SNPs in the WNT10A gene and the risk for tooth agenesis. Moreover, nine pathogenic mutations within the coding region of the WNT10A gene were identified in 26 out of 42 (62%) tested patients. One novel heterozygous mutation was identified in the PAX9 gene. Borderline association with the risk of non-syndromic tooth agenesis was also observed for the APC, CTNNB1, DVL2 and WNT11 polymorphisms. In conclusion, nucleotide variants of genes encoding important components of the Wnt signalling pathway might influence the risk of tooth agenesis.

Keywords: WNT10A; Wnt pathway; association; nucleotide variant; tooth agenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anodontia / genetics*
  • Anodontia / pathology
  • Case-Control Studies
  • Child
  • DNA Mutational Analysis
  • Female
  • Gene Expression
  • Gene Frequency
  • Haplotypes
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • PAX9 Transcription Factor / genetics*
  • Poland
  • Polymorphism, Single Nucleotide*
  • Tooth / metabolism*
  • Tooth / pathology
  • Wnt Proteins / genetics*
  • Wnt Signaling Pathway*


  • PAX9 Transcription Factor
  • PAX9 protein, human
  • WNT10A protein, human
  • Wnt Proteins