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Title: Estudo de associação entre fissuras labiopalatais e os genes TGFB3 e BMP4
Keywords: Anomalias craniofaciais;  Anodontia;  Polimorfismo genético;  Proteína morfogenética óssea;  Fator de crescimento transformante beta;  Saúde pública;  Craniofacial anomalies;  Anodontia;  Genetic polymorphisms;  Bone morphogenetic protein;  Transforming growth factor beta;  Public health;  MEDICINA;  CIÊNCIAS MÉDICAS;  Fenda labial
Issue Date: 26-Sep-2012
Abstract: Cleft lip and/or palate detached among the congenital anomalies that show clinic diversity. These defects are thought to be multifactorial with an interaction between genetic and environmental factors.The aim of this study was to evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626), and the BMP4 gene (rs17563) with nonsyndromic oral clefts. The sample consisted of 383 individuals with nonsyndromic oral clefts ascertained through a public reference hospital of oral cleft rehabilitation in Rio de Janeiro, 450 subjects without nonsyndromic oral clefts and tooth agenesis recruited at Dental Clinic in Federal University of Rio de Janeiro (PTTPOUFRJ) and 50 individuals with isolated tooth agenesis treated at PTTPO-UFRJ. Cleft type and tooth agenesis data were collected by clinical examination and confirmed through their medical records. Risk factors were obtained through a questionnaire. Genotyping of the selected polymorphisms for TGFB3 and BMP4 were carried out by real-time PCR using the Taqman assay method from a genomic DNA isolated from buccal epithelial cells of all individuals. No significant association in relation to genotype or allele distributions for TGFB3 polymorphism was found between oral cleft subgroups and control. For BMP4, there were significant differences in the genotypes frequencies between oral cleft and control group (p=0.0007). Regarding cleft type, there were statistical differences between cleft lip and control group (p=0.00009). These results suggest that the risk of oral cleft may be influenced by variation on BMP4 gene. Our results also demonstrate evidence for the association of polymorphism in TGFB3 gene, and in BMP4 genes related to tooth agenesis.
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