RESUMO
BACKGROUND: The purpose of this study was to analyze the association between the genetic polymorphism of genes (PAX6, SOSTDC1and FAM20B) and the susceptibility to mesiodens. METHODS: This study was carried out on 50 patients with mesiodens and 50 controls. The family history of each patient with mesiodens were recorded. Genomic DNA was extracted from saliva samples, and single nucleotide polymorphisms were detected in all exons and exon/intron boundaries of PAX6, SOSTDC1 and FAM20B using Sanger sequencing. The data were analyzed using pearson chi-square test with theoretical frequency ≥ 5. For theoretical frequency less than 5 but at least 1 (≤20% cell), the data were analyzed by continuity correction. For the rest, Fisher's Exact test was used. A P-value< 0.05 was considered statistically significant. The Odds ratio (OR) and confidence intervals (CI) were recorded. RESULTS: Three polymorphisms were detected in PAX6. Two polymorphisms were detected in SOSTDC1. Twenty-nine polymorphisms were detected in FAM20B. Although, the T allele of FAM20B (rs3766626) appears to be associated with mesiodens (P = 0.051), there were no significant differences of PAX6/SOSTDC1/FAM20B gene polymorphisms between the two groups. The T allele of FAM20B (rs3766626) was associated with susceptibility to two mesiodens (P < 0.001; OR = 8.333; CI = 2.516-27.600). CONCLUSIONS: Lack of association between PAX6/SOSTDC1/FAM20B gene polymorphisms and mesiodens in the population studied was detected. Further studies with large samples on T allele of FAM20B (rs3766626) are needed.
Assuntos
Fator de Transcrição PAX6/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Proteínas/genética , Dente Supranumerário/genética , Proteínas Adaptadoras de Transdução de Sinal , Alelos , Estudos de Casos e Controles , Éxons , Frequência do Gene , Predisposição Genética para Doença , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Razão de Chances , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Noma is a progressive infectious disease manifested by a necrotic ulcer of the mouth and face. It usually occurs in poor, malnourished children, with about 30,000-140,000 cases each year and a low survival rate. The exact cause of noma remains unclear, but bacterial infection has been postulated to be a major cause of this disease. Antibiotics and improved nutrition could help inhibit the progression of noma, but most patients still require oral surgery because of the bacterial infection-induced tissue damage. In this study, we report an unusual case of a noma patient whose facial lesion developed a malignancy. The necrotic tissue and infectious area were surgically resected, and a forearm flap was used to repair the patient's facial defect. This case aimed at increasing people's awareness of tropical diseases such as noma.