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TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis
Leonardo dos Santos Antunes1, Erika Calvano Küchler, Patricia Nivoloni Tannure
1Fluminense Federal University, Cell Therapy Center, Unit of Clinical Research, Niterói, Brazil.
Acta Odontologica Scandinavica
|December 24, 2011
Summary
Genetic variations in TGFB3 and BMP4 genes are linked to tooth agenesis. This study found specific gene polymorphisms associated with the condition, suggesting a genetic contribution to missing teeth development.
Area of Science:
- Genetics
- Developmental Biology
- Oral Health
Background:
- Tooth agenesis is a common congenital anomaly affecting dental development.
- Genetic factors are known to play a role in the etiology of tooth agenesis.
- Specific gene polymorphisms may influence an individual's susceptibility to developing tooth agenesis.
Purpose of the Study:
- To investigate the association between specific polymorphisms in the Transforming Growth Factor Beta 3 (TGFB3) gene (rs2268626) and the Bone Morphogenetic Protein 4 (BMP4) gene (rs17563) and isolated human tooth agenesis.
- To determine if these genetic variations contribute to the development of missing teeth.
Main Methods:
- A case-control study design was employed with 50 individuals diagnosed with tooth agenesis and 125 controls.
- Genotyping for TGFB3 (rs2268626) and BMP4 (rs17563) polymorphisms was performed using real-time PCR with Taqman assays.
- Genomic DNA was isolated from buccal epithelial cells of all participants.
Main Results:
- Significant differences in genotype frequencies were observed between tooth agenesis cases and controls for the TGFB3 gene (p = 0.026).
- Allele and genotype frequencies for TGFB3 showed significant differences in unilateral tooth agenesis cases compared to controls (p = 0.014 and p = 0.004, respectively).
- The BMP4 gene also exhibited statistically significant differences in genotype distribution between groups (p = 0.047), with the GG genotype being more prevalent in individuals with three or more missing teeth (p < 0.0001).
Conclusions:
- Polymorphisms in the TGFB3 and BMP4 genes are associated with an increased risk of developing tooth agenesis.
- These findings suggest a genetic contribution of TGFB3 and BMP4 variations to the etiology of tooth agenesis.
- Further research is warranted to fully elucidate the extent to which these polymorphisms influence tooth agenesis status.
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