title: Fine mapping of locus Xq25.1-27-2 for a low caries experience phenotype.
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.
  
  
  METHODS
  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.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: eck51@pitt.edu.
authors.forename: Erika C
authors.initials: EC
authors.lastname: Küchler
authors.affiliation: Guiyang Stomatological Hospital, Guiyang, Guizhou, China. Electronic address: psxf_p@yahoo.com.cn.
authors.forename: Ping
authors.initials: P
authors.lastname: Feng
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: kbd1@pitt.edu.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Deeley
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: caf65@pitt.edu.
authors.forename: Carly A
authors.initials: CA
authors.lastname: Fitzgerald
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: cam194@pitt.edu.
authors.forename: Chelsea
authors.initials: C
authors.lastname: Meyer
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: anastasia_igorevna@mail.ru.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Gorbunov
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: marianabezamat@gmail.com.
authors.forename: Mariana
authors.initials: M
authors.lastname: Bezamat
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA; Clinical Research Unit, Fluminense Federal University, Niterói, RJ, Brazil. Electronic address: nandareis31@hotmail.com.
authors.forename: Maria Fernanda
authors.initials: MF
authors.lastname: Reis
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: jbn9@pitt.edu.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Noel
authors.affiliation: Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: mhd.zahir.kouzbari@hotmail.com.
authors.forename: M Zahir
authors.initials: MZ
authors.lastname: Kouzbari
authors.affiliation: 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.
authors.forename: José M
authors.initials: JM
authors.lastname: Granjeiro
authors.affiliation: 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.
authors.forename: Leonardo S
authors.initials: LS
authors.lastname: Antunes
authors.affiliation: Pediatric Clinics, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil. Electronic address: liviaazeredo@yahoo.com.br.
authors.forename: Livia A
authors.initials: LA
authors.lastname: Antunes
authors.affiliation: Pediatric Clinics, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil. Electronic address: fvolpe07@gmail.com.
authors.forename: Fernanda Volpe
authors.initials: FV
authors.lastname: de Abreu
authors.affiliation: Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil. Electronic address: pttpo2009@yahoo.com.br.
authors.forename: Marcelo C
authors.initials: MC
authors.lastname: Costa
authors.affiliation: 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.
authors.forename: Patricia N
authors.initials: PN
authors.lastname: Tannure
authors.affiliation: Department of Pedodontics, Istanbul University, Istanbul, Turkey. Electronic address: figenseymen@superonline.com.
authors.forename: Figen
authors.initials: F
authors.lastname: Seymen
authors.affiliation: Department of Pedodontics, Istanbul University, Istanbul, Turkey. Electronic address: mineyildirim1982@gmail.com.
authors.forename: Mine
authors.initials: M
authors.lastname: Koruyucu
authors.affiliation: Department of Pedodontics, Medipol Istanbul University, Istanbul, Turkey. Electronic address: asli_patir@yahoo.com.
authors.forename: Asli
authors.initials: A
authors.lastname: Patir
authors.affiliation: 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.
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D003731:Dental Caries / Q000453:epidemiology / Q000235:genetics*; D005091:Exons; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010414:Pennsylvania / Q000453:epidemiology; D010641:Phenotype; D010679:Philippines / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors; D014421:Turkey / Q000453:epidemiology
chemical_list: D005819:Genetic Markers
keywords: Caries; Genetics; Linkage disequilibrium