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FINE-MAPPING OF 5Q12.1-13.3 UNVEILS NEW GENETIC CONTRIBUTORS TO CARIES
Shimizu, T. et al. | Date Issued: 2013
Author
Shimizu, T.
Deeley, K.
Briseño-Ruiz, J.
Faraco Jr., I. M.
Poletta, F. A.
Brancher, J. A.
Pecharki, G. D.
Küchler, E. C.
Tannure, P. N.
Lips, A.
Vieira, T. C. S.
Patir, A.
Yildirim, M.
Mereb, J. C.
Resick, J. M.
Brandon, C. A.
Cooper, M. E.
Seymen, F.
Costa, M. C.
Granjeiro, J. M.
Trevilatto, P. C.
Orioli, I. M.
Castilla, E. E.
Marazita, M. L.
Vieira, A. R.
Affilliation
Nihon University of Dentistry at Matsudo. Department of Pediatric Dentistry. Matsudo, Japan.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research). Buenos Aires, Argentina /
Pontifícia Universidade Católica do Paraná. Centro de Ciências Biológicas e de Saúde. Curitiba, PR, Brasil.
Pontifícia Universidade Católica do Paraná. Centro de Ciências Biológicas e de Saúde. Curitiba, PR, Brasil.
Universidade Federal Fluminense. Instituto de Biologia. Unidade de Pesquisa Clínica. Niterói, RJ, Brasil / INMETRO. Duque de Caxias, RJ, Brasil.
Universidade Federal do Rio de Janeiro. Departamento de Odontologia Pediátrica e Ortodôntica. Rio de Janeiro, RJ, Brasil.
Universidade Federal do Rio de Janeiro. Departamento de Odontologia Pediátrica e Ortodôntica. Rio de Janeiro, RJ, Brasil.
Universidade Federal Fluminense. Instituto de Biologia. Unidade de Pesquisa Clínica. Niterói, RJ, Brasil.
Istanbul Medipol University. Istambul, Turkey.
Istanbul University. Istanbul , Turkey.
ECLAMC at Hospital de Area El Bolsón. Río Negro , Argentina.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
Istanbul University. Istanbul , Turkey.
Universidade Federal do Rio de Janeiro. Departamento de Odontologia Pediátrica e Ortodôntica. Rio de Janeiro, RJ, Brasil.
Universidade Federal Fluminense. Instituto de Biologia. Unidade de Pesquisa Clínica. Niterói, RJ, Brasil.
Pontifícia Universidade Católica do Paraná. Centro de Ciências Biológicas e de Saúde. Curitiba, PR, Brasil.
Universidade Federal do Rio de Janeiro. Centro de Ciências da Saúde. Instituto de Biologia. Departamento de Genética. ECLAMC at INAGEMP-CNPq. Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil.
ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research). Buenos Aires, Argentina / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. ECLAMC at INAGEMP-CNPq. Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA /University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA.
University of Pittsburgh. Department of Oral Biology. Pittsburgh, USA / University of Pittsburgh. Clinical and Translational Science Institute. School of Dental Medicine. Department of Pediatric Dentistry. Center for Craniofacial and Dental Genetics. Pittsburgh, USA.
Abstract
Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1–5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs ( PART1 , ZSWIM6 , CCNB1 , and BTF3 ). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.
Keywords
Dental caries susceptibilit
Epidemiology
Genetics
Immune response genes
Saliva
 
DeCS
Suscetibilidade à Cárie Dentária
Epidemiologia
Genes Classe II do Complexo de Histocompatibilidade (MHC)
Saliva
Genética
 
Publisher
S. Karger AG, Basel
Citation
SHIMIZU, T,; et al. Fine-Mapping of 5q12.1–13.3 Unveils New Genetic Contributors to Caries. Caries Res., v. 47, n.4, p. 273–283, 2013.
DOI
10.1159/000346278
ISSN
1421-976X