Single nucleotide polymorphisms in odontogenesis-related genes associated with tooth-size discrepancy

Abstract

Introduction: The present study aimed to determine the association between single nucleotide polymorphisms (SNPs) in RUNX2, SMAD6, BMP2, and BMP4 genes in relation to tooth-size discrepancy (TSD). Methods: A cross-sectional study of patients undergoing orthodontic treatment measured the mesiodistal width of permanent teeth from pretreatment dental casts. Sixty-two patients were included in the study and TSD was assessed according to the Bolton analysis. The patients were allocated into a control group (without a TSD), an anterior excess group and an overall excess group. Genomic DNA was extracted from saliva samples, and SNPs previously associated with tooth size were evaluated using a real-time polymerase chain reaction (PCR) system. The Fisher exact test was performed to compare genotype and allele frequencies at an α = 0.05. An Odds Ratio (OR) and 95% Confidence Interval (95% CI) were calculated. Results: The rs59983488 SNP in the RUNX2 gene was significantly related to the presence of anterior mandibular tooth-size excess in allele (T allele: p<0.001; OR = 11.74; 95% CI =2.61–55.80), and genotype models (GT genotype: p = 0.002; OR = 12.69; 95% CI = 2.47–64.83). The rs3934908 SNP in the SMAD6 gene was significantly associated with the presence of an overall maxillary tooth-size excess in allele (T allele: p < 0.001) and genotype models (TT genotype: p = 0.010). Conclusion: The present results suggest that SNPs in RUNX2 (rs59983488) and SMAD6 (rs3934908) genes may be associated with the presence of tooth-size excess.

Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile

“…Unraveling the genetic factors involved in facial development contributes to the improvement of malocclusion predictability, orthodontic treatment planning, and patient response management [ 10 , 14 ]. In this study, we assess the potential impact of SNPs on vertical facial profile establishment.…”

“…In this study, we assess the potential impact of SNPs on vertical facial profile establishment. Seven SNPs in well-known genes involved in craniofacial development [ 8 , 10 , 14 ] and associated with skeletal bone physiology [ 17 , 18 , 22 ] were chosen. We reject the null hypothesis; some SNPs in candidate genes may increase the risk of hyperdivergent facial growth.…”

“…Recent studies exploring SNPs in genes associated with bone physiology have gained attention due to the possible impact on craniofacial growth [ 8 , 10 , 13 , 14 ]. RUNX2 (Runt-related transcription factor 2) gene encodes the master bone transcription factor, crucial for osteoblast differentiation, driving skeletal development and important for craniofacial and dental morphogenesis in vertebrates [ 15 ].…”

Impact of genetic variations in the WNT family members and RUNX2 on dental and skeletal maturation: a cross-sectional study

“…In this study, these genetic variants were not associated with dental and skeletal maturation. Due to the impact of these variants on craniofacial development showed by previous results [ 28 , 46 ], future studies should investigate their impact on dental and skeletal phenotypes in other populations.…”