IRF6, MSX1, TGFA, dental anomalies, and skeletal malocclusion

Author(s):  
Clarissa C A Fernandez ◽  
Christiane V C A Pereira ◽  
Fernanda F C F Ferreira ◽  
José V B Maciel ◽  
Adriana Modesto ◽  
...  

Summary Objective Verify the presence of association between four variables—transforming growth factor α (TGFA; C/T rs1523305), interferon regulatory factor 6 (IRF6; A/C rs2013162), muscle segment homeobox 1 (MSX1; A/G rs12532), and dental anomalies—with skeletal malocclusion by comparing these four variables with Angle Classes I, II, and III, and normal, hyperdivergent, and hypodivergent growth patterns. Methods A total of 505 orthodontic records of patients older than 8 years were evaluated. The sample consisted of 285 (56.4 per cent) females, 220 (43.6 per cent) males, 304 (60.2 per cent) Whites (the rest were mixed Blacks with Whites), with a mean age of 20.28 (±10.35) years (ranging from 8 to 25 years). Eight cephalometric points, which served as the anatomical framework for obtaining angles and cephalometric measurements, were used for skeletal characterization using the Dolphin Software. Samples of saliva were collected and the DNA was extracted, diluted and quantified. Markers in TGFA, IRF6, and MSX1 were used and genotypes were obtained using TaqMan chemistry. Odds ratio (OR) and 95 per cent confidence interval (CI) calculations, chi-square, Fisher’s Exact, Mann–Whitney, and correlation coefficient tests (significance level: 95 per cent) were performed. Bonferroni correction was applied and an alpha of 0.0006 was considered statistically significant. Results There was no statistically significant associations between markers in TGFA or IRF6 with skeletal malocclusions. Tooth agenesis was associated with facial convexity (P < 0.001). MSX1 was associated with Class II skeletal malocclusion (P = 0.0001, OR = 0.6, CI = 0.46–0.78). Conclusion Individuals with tooth agenesis were more likely to have a convex face. MSX1 was associated with Class II skeletal malocclusion.

2017 ◽  
Vol 88 (2) ◽  
pp. 195-201 ◽  
Author(s):  
Clarissa Christina Avelar Fernandez ◽  
Christiane Vasconcellos Cruz Alves Pereira ◽  
Ronir Raggio Luiz ◽  
Alexandre Rezende Vieira ◽  
Marcelo De Castro Costa

ABSTRACT Objectives: To evaluate prevalence, distribution, and sexual dimorphism of dental anomalies (DA) among different skeletal malocclusions (SM) and growth patterns (GP) under the hypothesis that specific clinical patterns exist and may indicate common etiological roots. Materials and Methods: A total of 1047 orthodontic records of patients older than 8 years were evaluated. The SN-GoGn angle was used to classify GP (hypodivergent, normal, and hyperdivergent), and the ANB angle was used to verify SM (Angle Classes I, II, and III). These assessments were done from lateral cephalometric radiographs. DA were diagnosed using panoramic radiographs by one calibrated investigator. Odds ratios, chi-square, and Student's t-tests were used. Results: Of the subjects, 56.7% were female, with mean age of 16.41 (±10.61) years. The prevalence of DA was 15.7%. Impaction and tooth agenesis were the most prevalent DA, with relative frequencies of 14.4% and 9.7%, respectively. DA were most prevalent in Class III SM (80.8%) and in hypodivergent GP (82.5%), although this was not statistically significant. Tooth agenesis (P < .01) and microdontia (P = .025) were significantly more common among hypodivergent GP and Class III SM, respectively. Conclusions: The results of this study support the idea that DA are preferentially associated with certain patterns of malocclusion.


2019 ◽  
Vol 9 (1) ◽  
pp. 15-18
Author(s):  
Bashu Dev Pant ◽  
Anjana Rajbhandari ◽  
Resina Pradhan ◽  
Manju Bajracharya

Introduction: Teeth eruption is important for the development of alveolar process which increases vertical height of the face and third molar is the last tooth to erupt in the oral cavity after birth. The aim of this study was to determine relationship between skeletal malocclusion and dental anomalies in Nepalese population. Materials & Method: A sample of 170 patients with agenesis of at least one third molar was divided into four groups according to the third-molar agenesis pattern. Panoramic radiographs, lateral cephalograph and cast models were used to determine the skeletal malocclusion and associated dental anomalies. The Pearson chi-square test was used for stastical analysis. Result: Among 170 patients more than half of the patients were female with the average age being 18.15 ± 3.64 years. Majority of the patients had Class I skeletal malocclusion followed by Class II and III but on group wise comparison of patients with different skeletal patterns Class I skeletal malocclusion had highest prevalence of dental anomalies followed by Class III and Class II malocclusion. Conclusion: Prevalence of third-molar agenesis was more in skeletal class I malocclusion followed by class II and III but skeletal Class I malocclusions had more dental anomalies followed by class III and class II malocclusion.


2004 ◽  
Vol 41 (4) ◽  
pp. 387-391 ◽  
Author(s):  
Maria Rita Passos-Bueno ◽  
Dinamar A. Gaspar ◽  
Tânia Kamiya ◽  
Graziela Tescarollo ◽  
Daniel Rabanéa ◽  
...  

Objective Transforming growth factor-α (TGFA) was the first gene suggested to be associated with nonsyndromic cleft lip, cleft palate, or both (CL/ P). There are, however, still controversies of the effect of TGFA on the predisposition of this malformation. To contribute to a better understanding of the role of this gene in the occurrence of CL/P we undertook a case-control study including patients and controls ascertained in different regions of the country. Design We examined the C2/TaqI variant of the TGFA gene in 536 patients with nonsyndromic CL/P and 412 controls. The TGFA genotype frequencies in patients were compared with controls using chi-square or Fisher exact test. DNA, obtained from peripheral blood or buccal swabs, was genotyped for the TaqI polymorphism of TGFA. Setting The probands and corresponding controls were ascertained in different centers of Brazil, partly representing the ethnic admixture of our population. Results The TGFA genotype distribution was very similar in patients with CL/P ascertained in the three different regions of Brazil. However, a discrete difference was observed between controls of Säo Paulo and Ceará (chi-square = 3.605; p = 0.058), with a lower value of the C2/Taq allele frequency in controls of CE (0.04). These data reinforce that this polymorphic system is heterogenous among different ethnic groups. In addition, no evidence was found for an association of TGFA with CL/P in this case-control study. Conclusion These data further suggest that TGFA is not a relevant modifier locus for the occurrence of CL/P.


1989 ◽  
Vol 264 (7) ◽  
pp. 3880-3883
Author(s):  
J E Kudlow ◽  
A W Leung ◽  
M S Kobrin ◽  
A J Paterson ◽  
S L Asa

2008 ◽  
Vol 294 (6) ◽  
pp. L1217-L1225 ◽  
Author(s):  
William D. Hardie ◽  
Cynthia Davidson ◽  
Machiko Ikegami ◽  
George D. Leikauf ◽  
Timothy D. Le Cras ◽  
...  

Transforming growth factor-α (TGF-α) is a ligand for the EGF receptor (EGFR). EGFR activation is associated with fibroproliferative processes in human lung disease and animal models of pulmonary fibrosis. We determined the effects of EGFR tyrosine kinase inhibitors gefitinib (Iressa) and erlotinib (Tarceva) on the development and progression of TGF-α-induced pulmonary fibrosis. Using a doxycycline-regulatable transgenic mouse model of lung-specific TGF-α expression, we determined effects of treatment with gefitinib and erlotinib on changes in lung histology, total lung collagen, pulmonary mechanics, pulmonary hypertension, and expression of genes associated with synthesis of ECM and vascular remodeling. Induction in the lung of TGF-α caused progressive pulmonary fibrosis over an 8-wk period. Daily administration of gefitinib or erlotinib prevented development of fibrosis, reduced accumulation of total lung collagen, prevented weight loss, and prevented changes in pulmonary mechanics. Treatment of mice with gefitinib 4 wk after the induction of TGF-α prevented further increases in and partially reversed total collagen levels and changes in pulmonary mechanics and pulmonary hypertension. Increases in expression of genes associated with synthesis of ECM as well as decreases of genes associated with vascular remodeling were also prevented or partially reversed. Administration of gefitinib or erlotinib did not cause interstitial fibrosis or increases in lavage cell counts. Administration of small molecule EGFR tyrosine kinase inhibitors prevented further increases in and partially reversed pulmonary fibrosis induced directly by EGFR activation without inducing inflammatory cell influx or additional lung injury.


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