title: MMP1 and MMP20 contribute to tooth agenesis in humans.
abstract: OBJECTIVE
  Variations in genes that are critical for tooth formation may contribute to the tooth agenesis. MMPs are potential candidate genes for dental alterations based on the roles they play during embryogenesis. The aim of this study was to investigate the possible association between MMP1, MMP3, and MMP20 and tooth agenesis.
  
  
  METHODS
  One hundred sixty-seven nuclear families from two different populations were analysed, 116 from Brazil and 51 from Turkey. Probands had at least one congenitally missing tooth. DNA samples were obtained from blood or saliva samples and genotyping was performed using TaqMan chemistry. In addition, Mmp20 was selected for quantitative real-time polymerase chain reaction analysis with SYBR Green I Dye in mouse tooth development.
  
  
  RESULTS
  Associations between tooth agenesis and MMP1 (p=0.007), and MMP20 (p=0.03) were found in Brazilian families. In the total dataset, MMP20 continued to be associated with tooth agenesis (p=0.01). Mmp20 was not expressed during the initial stages of tooth development.
  
  
  CONCLUSIONS
  Our findings provide evidence that MMP1 and MMP20 play a role in human tooth agenesis.
authors.affiliation: Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil; Department of Cellular and Molecular Biology, Biology Institute and Cell Therapy Center, Unit of Clinical Research, Fluminense Federal University, Niterói, RJ, Brazil.
authors.forename: Erika C
authors.initials: EC
authors.lastname: Küchler
authors.forename: Renato
authors.initials: R
authors.lastname: Menezes
authors.forename: Nicholas
authors.initials: N
authors.lastname: Callahan
authors.forename: Marcelo C
authors.initials: MC
authors.lastname: Costa
authors.forename: Adriana
authors.initials: A
authors.lastname: Modesto
authors.forename: Raquel
authors.initials: R
authors.lastname: Meira
authors.forename: Asli
authors.initials: A
authors.lastname: Patir
authors.forename: Figen
authors.initials: F
authors.lastname: Seymen
authors.forename: Katiúcia B S
authors.initials: KB
authors.lastname: Paiva
authors.forename: Fabio Daumas
authors.initials: FD
authors.lastname: Nunes
authors.forename: José Mauro
authors.initials: JM
authors.lastname: Granjeiro
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000704:Analysis of Variance; D000818:Animals; D000848:Anodontia / Q000235:genetics*; D001938:Brazil; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020781:Matrix Metalloproteinase 1 / Q000235:genetics*; D053519:Matrix Metalloproteinase 20 / Q000235:genetics*; D019278:Matrix Metalloproteinase 3 / Q000235:genetics; D051379:Mice; D009805:Odontogenesis / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014421:Turkey
chemical_list: D053519:Matrix Metalloproteinase 20; D019278:Matrix Metalloproteinase 3; D020781:Matrix Metalloproteinase 1