The role of AXIN2 gene variant in hypodontia: a case-control study

Hypodontia, the congenital absence of one or more teeth, is influenced by genetic factors, including variations in the Axis inhibition protein 2 (AXIN2) gene. The rs7224837 A/G in AXIN2 has been implicated in tooth development, but its precise role remains unclear. This study aimed to investigate the association between rs7224837 A/G and hypodontia in a case-control design.

A total of 96 participants (41 hypodontia cases and 55 healthy controls) were genotyped for rs7224837 A/G using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Allelic and genotypic frequencies were compared between groups using chi-square tests.

Multivariable analysis with Bonferroni correction (P < 0.01) revealed that the G allele of AXIN2 rs7224837 was significantly associated with reduced risk of hypodontia under allelic (OR = 0.25; 95% CI: 0.11–0.58; P = 0.001) and dominant models (OR = 0.25; 95% CI: 0.08–0.59; P = 0.008), suggesting a protective role for this variant.

This study demonstrates that the G allele of rs7224837 A/G may play a protective role against hypodontia, supporting the involvement of genetic variations in tooth agenesis.