Objective: To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626) and the BMP4 gene (rs17563) with isolated human tooth agenesis.
Materials and methods: One hundred and seventy-five unrelated individuals (125 control individuals without tooth agenesis and 50 cases with tooth agenesis) were evaluated using a case-control design. The participants of the study were recruited through the Dental School of the Federal University of Rio de Janeiro, Brazil. Genotyping of the selected polymorphisms for TGFB3 (48 individuals with tooth agenesis and 125 control cases) and BMP4 (46 individuals with tooth agenesis and 88 control cases) were carried out by real-time PCR using the Taqman assay method from a genomic DNA isolated from buccal epithelial cells of all individuals.
Results: Significant statistical differences were found for genotype frequencies between tooth agenesis and TGFB3 control samples (p = 0.026). In addition, significant differences were also observed for allele and genotype frequencies between unilateral tooth agenesis and TGFB3 control samples (p = 0.014 and 0.004 for allele and genotype frequencies, respectively). For BMP4, genotype distribution had a statistically significant difference between groups (p = 0.047). The GG genotype of BMP4 was more frequent in individuals with three or more missing teeth than in the control group (p < 0.0001).
Conclusions: These results indicate that polymorphisms in the TGFB3 gene and in BMP4 genes contribute to tooth agenesis. Nonetheless, the extents to which this polymorphism may actually contribute to the tooth agenesis status should be clarified.