Association between facial measurements and polymorphisms in human epidermal growth factor and transforming growth factor β1

Cavalcante, Rafael Correia; Bergamaschi, Isabela Polesi; Sebastiani, Aline Monise; Meger, Michelle Nascimento; Signorini, Luciana; Costa, Delson João da; Küchler, Érika Calvano; Scariot, Rafaela

doi:10.1016/j.bjoms.2019.11.024

Cited by 4 publications

(7 citation statements)

References 22 publications

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“…In the past years, there was an increase in SNP-phenotype[ 5 6 7 ] and genome-wide association studies (GWAS),[ 16 17 ] in which many genes/SNPs were linked to some craniofacial phenotypes, including RUNX2 [ 16 17 18 ] and BMP2 . [ 19 20 21 ] However, the understanding of the functional impact of SNPs on gene expression within craniofacial tissue is still largely unexplored.…”

Section: Discussionmentioning

confidence: 99%

“…[ 3 4 ] Variations in craniofacial growth lead to different sagittal and vertical morphological patterns. [ 5 6 7 ] Sagittal patterns are most frequently classified into skeletal malocclusion Class I, II, and III,[ 8 ] whereas vertical patterns are differentiated into mesofacial, dolichofacial, and brachyfacial facial growth patterns. [ 9 ]…”

Section: Introductionmentioning

confidence: 99%

“…When they are within transcriptional regulatory elements, SNPs can affect mRNA (messenger RNA) expression,[ 12 ] impacting the phenotype. SNPs in many genes have been associated with different sagittal and vertical craniofacial patterns in humans,[ 5 6 7 13 ] including SNPs in RUNX2 and BMP2 , which were associated with different maxillary and mandibular phenotypes. [ 13 ]…”

Section: Introductionmentioning

confidence: 99%

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Single nucleotide polymorphisms in runt-related transcription factor 2 and bone morphogenetic protein 2 impact on their maxillary and mandibular gene expression in different craniofacial patterns - A comparative study

Scariot

Olsson

Silva

et al. 2021

Ann Maxillofac Surg

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Single nucleotide polymorphisms in runt-related transcription factor 2 and bone morphogenetic protein 2 impact on their maxillary and mandibular gene expression in different craniofacial patterns - A comparative study

Scariot

Olsson

Silva

et al. 2021

Ann Maxillofac Surg

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“…The cephalometric measurements were obtained through the lateral cephalograms that were digitally traced by trained and calibrated intra and between examiners (intraclass correlation coefficient test >0.89; CI 95%) using the Dolphin Imaging 11.7 software, version 2D (Dolphin Imaging and Management Solutions, a Patterson Technology). The linear and angular cephalometric measurements analyzed are based on Cavalcante et al (2020)6 study (Fig. 1).…”

Section: Methodsmentioning

confidence: 99%

“…DFD is considered a multifactorial condition dependent on environmental and genetic background for the phenotypic variation 4. It is known that some genes are associated with craniofacial measurements 5–8. In fact, genetic polymorphisms have been associated with mandibular size,7 and recently, epidermal growth factor and transforming growth factor (TGF-1) genes were associated with mandibular base length, mandibular length, anterior facial height and ANS-Me distance (linear distance between the anterior nasal spine to menton) 6…”

mentioning

confidence: 99%

Genetic Polymorphisms of Estrogen Receptors α and β are Associated with Craniofacial Measurements in Patients With Dentofacial Deformity

Lago

Okida

Cordeiro³

et al. 2022

Journal of Craniofacial Surgery

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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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New insights into the genetics of mandibular retrognathism: novel candidate genes

Paddenberg-Schubert,

Küchler,

Bitencourt Reis

et al. 2024

J Orofac Orthop

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Purpose Mandibular retrognathism (MR) is a common skeletal malocclusion in humans with a strong genetic component. Single nucleotide polymorphisms (SNPs) in genes encoding epidermal growth factor (EGF) and EGF receptor (EGFR) could be involved in the etiology of mandibular retrognathism. Therefore, in this study, we investigated whether SNPs in the genes encoding for EGF and EGFR are associated with MR in German teenagers. Methods This nested case–control study evaluated German orthodontic patients, aged 10–18 years. DNA, which was isolated from buccal epithelial cells using two cytobrushes, was used for genotyping analysis and digital pretreatment lateral cephalograms were examined to calculate SNB and ANB. Patients with a retrognathic mandible (SNB < 78°) were included as cases, while patients with an orthognathic mandible (SNB = 78–82°) were included as controls. Four SNPs in the genes encoding for EGF and EGFR were chosen and genotyped using real-time PCR. Allele, genotype, and haplotype frequency were compared across groups (α = 5%). Results Finally, 119 patients were included in this study (45 orthognathic mandible, 74 retrognathic mandible). The minor allele G in rs4444903 (EGF) was statistically more frequent in individuals with an orthognathic mandible (p = 0.008). The haplotype formed by the mutant alleles for rs4444903|rs2237051 (EGF; G|A) was statistically more frequent in the orthognathic mandible group (p = 0.007). The SNPs rs4444903 and rs2237051 in EGF, and rs2227983 in EGFR were statistically associated with a decreasing risk of developing a retrognathic mandible according to univariate and multivariate statistical analysis (p < 0.05). Conclusion SNPs in EGF (rs4444903 and rs2237051) and EGFR (rs2227983) were associated with MR in our German sample and could be genetic biomarkers for early and individualized diagnostic identification of retrognathic mandibular development by means of genetic screening tests.

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Association between facial measurements and polymorphisms in human epidermal growth factor and transforming growth factor β1

Cited by 4 publications

References 22 publications

Single nucleotide polymorphisms in runt-related transcription factor 2 and bone morphogenetic protein 2 impact on their maxillary and mandibular gene expression in different craniofacial patterns - A comparative study

Single nucleotide polymorphisms in runt-related transcription factor 2 and bone morphogenetic protein 2 impact on their maxillary and mandibular gene expression in different craniofacial patterns - A comparative study

Genetic Polymorphisms of Estrogen Receptors α and β are Associated with Craniofacial Measurements in Patients With Dentofacial Deformity

New insights into the genetics of mandibular retrognathism: novel candidate genes

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