Erika C Küchler1, Ping Feng2, Kathleen Deeley3, Carly A Fitzgerald4, Chelsea Meyer5, Anastasia Gorbunov6, Mariana Bezamat7, Maria Fernanda Reis8, Jacqueline Noel9, M Zahir Kouzbari10, José M Granjeiro11, Leonardo S Antunes12, Livia A Antunes13, Fernanda Volpe de Abreu14, Marcelo C Costa15, Patricia N Tannure16, Figen Seymen17, Mine Koruyucu18, Asli Patir19, Alexandre R Vieira20. 1. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: eck51@pitt.edu. 2. Guiyang Stomatological Hospital, Guiyang, Guizhou, China. Electronic address: psxf_p@yahoo.com.cn. 3. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: kbd1@pitt.edu. 4. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: caf65@pitt.edu. 5. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: cam194@pitt.edu. 6. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: anastasia_igorevna@mail.ru. 7. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: marianabezamat@gmail.com. 8. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA; Clinical Research Unit, Fluminense Federal University, Niterói, RJ, Brazil. Electronic address: nandareis31@hotmail.com. 9. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: jbn9@pitt.edu. 10. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: mhd.zahir.kouzbari@hotmail.com. 11. Clinical Research Unit, Fluminense Federal University, Niterói, RJ, Brazil; Directory of Programs, National Institute of Metrology, Quality and Technology (INMETRO), Duque de Caxias, RJ, Brazil. Electronic address: jmgranjeiro@gmail.com. 12. Clinical Research Unit, Fluminense Federal University, Niterói, RJ, Brazil; Pediatric Clinics, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil. Electronic address: leonardoantunes@id.uff.br. 13. Pediatric Clinics, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil. Electronic address: liviaazeredo@yahoo.com.br. 14. Pediatric Clinics, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil. Electronic address: fvolpe07@gmail.com. 15. Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil. Electronic address: pttpo2009@yahoo.com.br. 16. Veiga de Almeida University, Rio de Janeiro, RJ, Brazil; Discipline of Cariology, School of Dentistry, Salgado de Oliveira University, Niterói, RJ, Brazil. Electronic address: pntannure@gmail.com. 17. Department of Pedodontics, Istanbul University, Istanbul, Turkey. Electronic address: figenseymen@superonline.com. 18. Department of Pedodontics, Istanbul University, Istanbul, Turkey. Electronic address: mineyildirim1982@gmail.com. 19. Department of Pedodontics, Medipol Istanbul University, Istanbul, Turkey. Electronic address: asli_patir@yahoo.com. 20. Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA; Center for Craniofacial and Dental Genetics, and Clinical and Translational Science Institute, University of Pittsburgh, Pittsburgh, PA, USA; Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: arv11@pitt.edu.
Abstract
OBJECTIVE: The purpose of this study was to fine map the locus Xq25.1-27-2 in order to identify genetic contributors involved in low caries experience. DESIGN: Seventy-two families from the Philippines were studied. Caries experience was recorded and genomic DNA extracted from peripheral blood was obtained from all subjects. One hundred and twenty-eight polymorphisms in the locus Xq25.1-27-2, a region that contains 24 genes, were genotyped. Association between caries experience and alleles was tested using the transmission disequilibrium test (TDT). This initial analysis was followed by experiments with DNA samples from 1481 subjects from Pittsburgh, 918 children from Brazil, and 275 children from Turkey in order to follow up the results found in the Filipino families. Chi-square or Fisher's exact tests were used. Sequencing of the coding regions and exon-intron boundaries of MST4 and FGF13 were also performed on 91 women from Pittsburgh. RESULTS: Statistically significant association with low caries experience was found for 11 markers in Xq25.1-27-2 in the Filipino families. One marker was in MST4, another marker was in FGF13, and the remaining markers were in intergenic regions. Haplotype analysis also confirmed these results, but the follow up studies with DNA samples from Pittsburgh, Brazil, and Turkey showed associations for a subset of the 11 markers. No coding mutations were identified by sequencing. CONCLUSIONS: Our study failed to conclusively demonstrate that genetic factors in Xq25.1-27-2 contribute to caries experience in multiple populations.
OBJECTIVE: The purpose of this study was to fine map the locus Xq25.1-27-2 in order to identify genetic contributors involved in low caries experience. DESIGN: Seventy-two families from the Philippines were studied. Caries experience was recorded and genomic DNA extracted from peripheral blood was obtained from all subjects. One hundred and twenty-eight polymorphisms in the locus Xq25.1-27-2, a region that contains 24 genes, were genotyped. Association between caries experience and alleles was tested using the transmission disequilibrium test (TDT). This initial analysis was followed by experiments with DNA samples from 1481 subjects from Pittsburgh, 918 children from Brazil, and 275 children from Turkey in order to follow up the results found in the Filipino families. Chi-square or Fisher's exact tests were used. Sequencing of the coding regions and exon-intron boundaries of MST4 and FGF13 were also performed on 91 women from Pittsburgh. RESULTS: Statistically significant association with low caries experience was found for 11 markers in Xq25.1-27-2 in the Filipino families. One marker was in MST4, another marker was in FGF13, and the remaining markers were in intergenic regions. Haplotype analysis also confirmed these results, but the follow up studies with DNA samples from Pittsburgh, Brazil, and Turkey showed associations for a subset of the 11 markers. No coding mutations were identified by sequencing. CONCLUSIONS: Our study failed to conclusively demonstrate that genetic factors in Xq25.1-27-2 contribute to caries experience in multiple populations.
Authors: J R Shaffer; X Wang; E Feingold; M Lee; F Begum; D E Weeks; K T Cuenco; M M Barmada; S K Wendell; D R Crosslin; C C Laurie; K F Doheny; E W Pugh; Q Zhang; B Feenstra; F Geller; H A Boyd; H Zhang; M Melbye; J C Murray; R J Weyant; R Crout; D W McNeil; S M Levy; R L Slayton; M C Willing; B Broffitt; A R Vieira; M L Marazita Journal: J Dent Res Date: 2011-09-21 Impact factor: 6.116
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Authors: Gina M DeStefano; Katherine A Fantauzzo; Lynn Petukhova; Mazen Kurban; Marija Tadin-Strapps; Brynn Levy; Dorothy Warburton; Elizabeth T Cirulli; Yujun Han; Xiaoyun Sun; Yufeng Shen; Maryam Shirazi; Vaidehi Jobanputra; Rodrigo Cepeda-Valdes; Julio Cesar Salas-Alanis; Angela M Christiano Journal: Proc Natl Acad Sci U S A Date: 2013-04-19 Impact factor: 11.205
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Authors: John R Shaffer; Xiaojing Wang; Daniel W McNeil; Robert J Weyant; Richard Crout; Mary L Marazita Journal: Caries Res Date: 2015-01-22 Impact factor: 4.056
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