Mine Koruyucu1, Yelda Kasimoğlu1, Figen Seymen1, Merve Bayram2, Asli Patir2, Nihan Ergöz1, Elif B Tuna1, Koray Gencay1, Kathleen Deeley3, Diego Bussaneli4, Adriana Modesto5, Alexandre R Vieira6. 1. Department of Pedodontics, School of Dentistry, Istanbul University, Istanbul, Turkey. 2. Department of Pedodontics, School of Dentistry, Istanbul Medipol University, Istanbul, Turkey. 3. Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA. 4. Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA; Department of Pediatric Dentistry, UNESP, Araraquara, Brazil. 5. Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA; Department of Pediatric Dentistry, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA. 6. Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA; Department of Pediatric Dentistry, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA. Electronic address: arv11@pitt.edu.
Abstract
OBJECTIVE: The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. STUDY DESIGN: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an α of .05. RESULTS: We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. CONCLUSIONS: Although we did not test this hypothesis directly in the present study, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition, and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care.
OBJECTIVE: The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. STUDY DESIGN: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an α of .05. RESULTS: We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. CONCLUSIONS: Although we did not test this hypothesis directly in the present study, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition, and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care.
Authors: Mariana Bezamat; Kathleen Deeley; Shahryar Khaliq; Ariadne Letra; Rafaela Scariot; Renato M Silva; Megan L Weber; Diego G Bussaneli; Paula C Trevilatto; Alejandro J Almarza; Hongjiao Ouyang; Alexandre R Vieira Journal: Caries Res Date: 2018-09-11 Impact factor: 4.056
Authors: Mariana Bezamat; Juliana F Souza; Fernanda M F Silva; Emilly G Corrêa; Aluhe L Fatturi; João A Brancher; Flávia M Carvalho; Tayla Cavallari; Laís Bertolazo; Cleber Machado-Souza; Mine Koruyucu; Merve Bayram; Andrea Racic; Benjamin M Harrison; Yan Y Sweat; Ariadne Letra; Deborah Studen-Pavlovich; Figen Seymen; Brad Amendt; Renata I Werneck; Marcelo C Costa; Adriana Modesto; Alexandre R Vieira Journal: PLoS One Date: 2021-01-06 Impact factor: 3.240