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Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile
Caio Luiz Bitencourt Reis1, Mirian Aiko Nakane Matsumoto1, Maria Bernadete Sasso Stuani1
1Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Plos One
|May 21, 2024
Summary
Genetic factors influence vertical facial profiles. Specific single nucleotide polymorphisms (SNPs) in RUNX2 and BMP2 genes are linked to a hyperdivergent facial profile, impacting orthodontic treatment planning.
Area of Science:
- Genetics
- Orthodontics
- Craniofacial Biology
Background:
- Vertical facial profile is key for facial aesthetics and orthodontic treatment planning.
- The genetic basis of vertical facial proportions, particularly the role of single nucleotide polymorphisms (SNPs), remains largely unexplored.
- Understanding genetic contributions can refine diagnostic and treatment strategies in orthodontics.
Purpose of the Study:
- To investigate the association between SNPs in craniofacial bone development genes and vertical facial profile types.
- To identify specific genetic markers that may predispose individuals to hyperdivergent or hypodivergent facial patterns.
Main Methods:
- Digital lateral cephalograms were used to classify 272 orthodontic patients into Normodivergent, Hyperdivergent, and Hypodivergent groups.
- Genomic DNA from saliva samples was analyzed for 7 SNPs in RUNX2, BMP2, BMP4, and SMAD6 genes using real-time PCR.
- Statistical analyses, including uni- and multivariate tests adjusted for age, were performed to evaluate genotype distributions.
Main Results:
- SNPs rs1200425 (RUNX2) and rs1005464 (BMP2) showed a significant association with hyperdivergent vertical facial profiles (p < 0.05).
- A synergistic effect was observed for the combined presence of rs1200425 and rs1005464, increasing the prevalence ratio for hyperdivergent profiles.
- No significant associations were found for SNPs in BMP4 and SMAD6 genes with vertical facial profiles.
Conclusions:
- This study provides evidence for a genetic influence on the development of vertical facial profiles.
- Specific SNPs within the RUNX2 and BMP2 genes are identified as potential genetic contributors to hyperdivergent facial morphology.
- These findings may have implications for personalized orthodontic treatment and risk assessment.
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