title: TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis.
abstract: OBJECTIVE
  To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626) and the BMP4 gene (rs17563) with isolated human tooth agenesis.
  
  
  METHODS
  One hundred and seventy-five unrelated individuals (125 control individuals without tooth agenesis and 50 cases with tooth agenesis) were evaluated using a case-control design. The participants of the study were recruited through the Dental School of the Federal University of Rio de Janeiro, Brazil. Genotyping of the selected polymorphisms for TGFB3 (48 individuals with tooth agenesis and 125 control cases) and BMP4 (46 individuals with tooth agenesis and 88 control cases) were carried out by real-time PCR using the Taqman assay method from a genomic DNA isolated from buccal epithelial cells of all individuals.
  
  
  RESULTS
  Significant statistical differences were found for genotype frequencies between tooth agenesis and TGFB3 control samples (p = 0.026). In addition, significant differences were also observed for allele and genotype frequencies between unilateral tooth agenesis and TGFB3 control samples (p = 0.014 and 0.004 for allele and genotype frequencies, respectively). For BMP4, genotype distribution had a statistically significant difference between groups (p = 0.047). The GG genotype of BMP4 was more frequent in individuals with three or more missing teeth than in the control group (p < 0.0001).
  
  
  CONCLUSIONS
  These results indicate that polymorphisms in the TGFB3 gene and in BMP4 genes contribute to tooth agenesis. Nonetheless, the extents to which this polymorphism may actually contribute to the tooth agenesis status should be clarified.
authors.affiliation: Fluminense Federal University, Cell Therapy Center, Unit of Clinical Research, Niterói, Brazil.
authors.forename: Leonardo dos Santos
authors.initials: Ldos S
authors.lastname: Antunes
authors.forename: Erika Calvano
authors.initials: EC
authors.lastname: Küchler
authors.forename: Patricia Nivoloni
authors.initials: PN
authors.lastname: Tannure
authors.forename: Priscila Falagan
authors.initials: PF
authors.lastname: Lotsch
authors.forename: Marcelo de Castro
authors.initials: Mde C
authors.lastname: Costa
authors.forename: Cresus Vinicius Depes
authors.initials: CV
authors.lastname: Gouvêa
authors.forename: Beni
authors.initials: B
authors.lastname: Olej
authors.forename: Jose Mauro
authors.initials: JM
authors.lastname: Granjeiro
mesh_terms: D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D055415:Bone Morphogenetic Protein 4 / Q000235:genetics*; D016022:Case-Control Studies; D019229:Dentition, Permanent; D005260:Female; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D011859:Radiography; D012016:Reference Values; D053782:Transforming Growth Factor beta3 / Q000235:genetics*
chemical_list: C525809:BMP4 protein, human; D055415:Bone Morphogenetic Protein 4; D053782:Transforming Growth Factor beta3