The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population

BACKGROUND: The congenital absence of one or few teeth, hypodontia, is considered one of the utmost dental ageneses in human beings. Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 (PAX9). The expression of PAX9 is controlled by several polymorphic elements in the promoter region of the gene on 14q13.3 locus. The aim of this study was to find any association between PAX9 c.-912T>C (rs2073247) and c.-1031G>A (rs2073244) promoter polymorphisms and the development of hypodontia among the Jordanian population. METHODS: Genotyping of the polymorphisms in 72 unrelated subjects with hypodontia was performed using PCR-restriction fragment length polymorphism (RFLP) technique and compared with that of 72 normal healthy unrelated control individuals. RESULTS: The hypodontia group had a significantly higher -1031GG genotype (P<0.01) and a significantly lower -912TC genotype (P<0.01) compared with the control group. The results suggest that the transcriptional activity of PAX9 gene is affected by polymorphisms in the promoter region of this gene and is associated with hypodontia phenotype. CONCLUSION: The rs2073247) and rs2073244 promoter polymorphisms of PAX9 might play a role in the development of hypodontia in the Jordanian population.