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ROLE OF TRAV LOCUS IN LOW CARIES EXPERIENCE
Briseño-Ruiz, Jessica et al. | Date Issued: 2013
Author
Briseño-Ruiz, Jessica
Shimizu, Takehiko
Deeley, Kathleen
Dizak, Piper M.
Ruff, Timothy D.
Faraco Jr., Italo M.
Poletta, Fernando A.
Brancher, João A.
Pecharki, Giovana D.
Küchler, Erika C.
Tannure, Patrícia N.
Lips, Andrea
Vieira, Thays C. S.
Patir, Asli
Koruyucu, Mine
Mereb, Juan C.
Resick, Judith M.
Brandon, Carla A.
Letra, Ariadne
Silva, Renato M.
Cooper, Margaret E.
Seymen, Figen
Costa, Marcelo C.
Granjeiro, José M.
Trevilatto, Paula C.
Orioli, Iêda M.
Castilla, Eduardo E.
Marazita, Mary L.
Vieira, Alexandre R.
Affilliation
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
Nihon University of Dentistry at Matsudo. Department of Pediatric Dentistry. Matsudo Chiba, Japan.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
ECLAMC (Latin American Collaborative Study of Congenital Malformations). CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina / ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) . Fundação Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
Pontifícia Universidade Católica do Paraná (PUCPR). Centro de Ciências Biológicas e da Saúde. Curitiba, PR, Brasil.
Pontifícia Universidade Católica do Paraná (PUCPR). Centro de Ciências Biológicas e da Saúde. Curitiba, PR, Brasil.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
Universidade Federal do Rio de Janeiro. Departamento de Odontologia Pediátrica e Ortodontia. Rio de Janeiro, RJ, Brasil.
Universidade Federal Fluminense. Instituto de Biologia. Unidade de Pesquisa Clínica. Niterói, RJ, Brasil.
Universidade Federal Fluminense. Instituto de Biologia. Unidade de Pesquisa Clínica. Niterói, RJ, Brasil.
Istanbul Medipol University. Department of Pedodontics. Istanbul, Turkey.
Istanbul University. Department of Pedodontics. Istanbul, Turkey.
ECLAMC at Hospital de Area El Bolsón. Río Negro, Argentina.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
University of Texas Health Science Center. Medical School. Pediatric Research Center. School of Dentistry. Department of Endodontics. Houston, Texas, USA.
University of Texas Health Science Center. Medical School. Pediatric Research Center. School of Dentistry. Department of Endodontics. Houston, Texas, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
Istanbul University. Department of Pedodontics. Istanbul, Turkey.
Universidade Federal do Rio de Janeiro. Departamento de Odontologia Pediátrica e Ortodontia. Rio de Janeiro, RJ, Brasil.
Universidade Federal Fluminense. Instituto de Biologia. Unidade de Pesquisa Clínica. Niterói, RJ, Brasil / INMETRo. Duque de Caxias, RJ, Brasil.
Pontifícia Universidade Católica do Paraná (PUCPR). Centro de Ciências Biológicas e da Saúde. Curitiba, PR, Brasil.
ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) in. Universidade Federal do Rio de Janeiro. Centro de Ciências da Saúde. Instituto de Biologia. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
ECLAMC (Latin American Collaborative Study of Congenital Malformations). CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina / ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) . Fundação Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA / University of Pittsburgh. Department of Human Genetics, and Clinical and Translational Science. Center for Craniofacial and Dental Genetics. Pittsburgh, PA, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA / University of Pittsburgh. School of Dental Medicine, and Clinical and Translational Science. Department of Pediatric Dentistry. Center for Craniofacial and Dental Genetics. Pittsburgh, PA, USA.
Abstract
Caries is the most common chronic, multifactorial disease in the world today; and little is still known about the genetic factors influencing susceptibility. Our previous genome- wide linkage scan has identified five loci related to caries susceptibility: 5q13.3, 13q31.1, 14q11.2, 14q 24.3, and Xq27. In the present study, we fine mapped the 14q11.2 locus in order to identify genetic contributors to caries susceptibility. Four hundred seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. An additional 387 DNA samples from unrelated individuals were used to determine allele frequencies. For replication purposes, a total of 1,446 independent subjects from four different populations were analyzed based on their caries experience (low versus high). Fortyeight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect overtransmission of alleles in the Filipino families, and chi-square, Fisher’s exact and logistic regression were used to test for association between low caries experience and variant alleles in the replication data sets. We finally assessed the mRNA expression of TRAV4 in the saliva of 143 study subjects. In the Filipino families, statistically significant associations were found between low caries experience and markers in TRAV4. We were able to replicate these results in the populations studied that were characteristically from underserved areas. Direct sequencing of 22 subjects carrying the associated alleles detect one missense mutation (Y30R) that is predicted to be probably damaging. Finally, we observed higher expression in children and teenagers with low caries experience, correlating with specific alleles in TRAV4. Our results suggest TRAV4 may have a role in protecting against caries.
Keywords
Caries
TRAV4 Locus
Low Caries Experience
 
Publisher
Springer Verlag
Citation
BRISEÑO-RUIZ, Jessica; et al. Role of TRAV Locus in Low Caries Experience. Hum Genet., v.132, n.9, p.1015–1025, Sept. 2013.
DOI
10.1007/s00439-013-1313-4
ISSN
0340-6717