Introduction: This study aimed to evaluate if single nucleotide polymorphisms (SNPs) in runt-related transcription factor 2 ( RUNX2 ) and bone morphogenetic protein 2 ( BMP2 ) are associated with different craniofacial patterns. Furthermore, we also investigated if RUNX2 and BMP2 expression in the maxilla and mandible are differently expressed according to facial phenotypes and influenced by the SNPs in their encoding genes. Orthognathic patients were included. Materials and Methods: Lateral cephalometric radiographs were used to classify facial phenotypes based on Steiner's ANB and Ricketts’ NBa-PtGn angles. Bone samples from 21 patients collected during orthognathic surgery were used for the gene expression assays. DNA from 129 patients was used for genotyping the SNPs rs59983488 and rs1200425 in RUNX2 and rs235768 and rs1005464 in BMP2 . The established alpha was 5%. Results: A statistically significant difference was observed in the relative BMP2 expression in the mandible between Class I and III participants ( P = 0.042). Homozygous GG (rs59983488) had higher RUNX2 expression ( P = 0.036) in the mandible. In maxilla, GG (rs1200425) had a higher BMP2 expression ( P = 0.038). Discussion: In conclusion, BMP2 is expressed differently in the mandible of Class I and Class III participants. Genetic polymorphisms in RUNX2 and BMP2 are associated with their relative gene expression.
Ossifying fibroma is a benign fibro-osseous lesion characterized by the formation of a cellular fibrous connective tissue stroma with cementum-like material and/or osseous components. The juvenile variant is reported to be an aggressive lesion in paediatric patients. Its poor symptomatology contrasts with its highly aggressive behaviour in maxillary or mandibular region. Objective: The aim of the present study is to report a case of an atypical ossifying fibroma in association of multiple deciduous teeth. Case report: A nine years-old girl was referenced to the Oral and Maxillofacial Surgery Service at Positivo University by the Paediatric Service after radiographic confirmation of a round lesion in lower left mandible region. Imaginological examination revealed a well-defined, round, with multiple radiopaque foci associated with the roots of deciduous molars and with root of first permanent mandibular molar of the left side. Lesion embedded the root and crown of the unerupted second left premolar, suggesting that the tumour arouse from it. After incisional biopsy, histopathological analysis suggested the trabecular pattern of juvenile ossifying fibroma. Surgery was conducted through an intra-oral approach. Incision was drawn in gingiva from the left lateral inferior incisor region until the unerupted second molar region, finished with a relaxing incision. A round tumour in association with the unerupted permanent premolars, which were also extracted, was removed in its entire extent by enucleation. Histopathological analysis confirmed the previous diagnosis of juvenile trabecular ossifying fibroma. Peripheral ostectomy was conducted to diminish chances of lesion relapse. Conclusion: 16 months follow-up showed no lesion recurrence.
Dentofacial deformities are characterized by abnormalities in craniofacial development that affects the individual's skeletal and occlusion, often causing functional and esthetic problems. In literature, there is an involvement of polymorphisms in estrogen receptor 1 (ESR1) and estrogen receptor 2 (ESR2) genes in craniofacial measurements. The aim of this study was to evaluate a possible association between polymorphisms in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) genes with cephalometric measurements in individuals with dentofacial deformities. This cross-sectional study was performed with 158 individuals in the preoperative period of orthognathic surgery. The cephalometric measurements obtained through lateral cephalogram using Dolphin Imaging software. For genetic analysis, the DNA extracted from epithelial cells of the oral mucosa and were genotyped using the real-time polymerase chain reaction. The data found submitted to statistical analysis, through the Kolmogorov-Smirnov, Mann-Whitney, and Kruskal-Wallis tests, using the IBM SPSS software version 24.0. Considered a significance level of 0.05. We found association between polymorphisms and cephalometric measurements just in the female sex. The polymorphisms ESR1/ rs9340799 (P = 0.003), ESR1/rs2234693 (P = 0.026), and ESR2/rs1256049 (P = 0.046) were associated with the upper gonial angle (Ar-Go-N). The polymorphism ESR2/rs1256049 was also associated with the facial axis-rickets (NBa-PtGn) (P = 0.004), anterior cranial base (SN) (P = 0.036), and Y-axis (SGn-SN) (P = 0.031).
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