Fine-Mapping of 5q12.1–13.3 Unveils New Genetic Contributors to Caries
| Autor: | Erika Calvano Küchler, M. Yildirim, José Mauro Granjeiro, Margaret E. Cooper, João Armando Brancher, Jessica Briseño-Ruiz, E. E. Castilla, Iêda M. Orioli, Mary L. Marazita, Italo M. Faraco, Juan C. Mereb, Giovana Daniela Pecharki, Figen Seymen, Patricia Nivoloni Tannure, Alexandre R. Vieira, Asli Patir, Paula Cristina Trevilatto, Takehiko Shimizu, T.C.S. Vieira, Andrea Lips, Marcelo de Castro Costa, Carla A. Brandon, Fernando A. Poletta, Judith M. Resick, Kathleen Deeley |
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| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
Saliva CIENCIAS MÉDICAS Y DE LA SALUD Dental Caries Susceptibility Epidemiology Pedigree chart Dental Caries Biology Polymorphism Single Nucleotide Immune response genes Article Polymorphism (computer science) Genotype Genetics medicine Humans Salivary Proteins and Peptides General Dentistry DMF Index Case-control study Chromosome Mapping Nuclear Proteins purl.org/becyt/ford/3.1 [https] Bioquímica y Biología Molecular Medicina Básica Immune Response Genes Case-Control Studies Cohort Chromosomes Human Pair 5 purl.org/becyt/ford/3 [https] Dental caries susceptibility Transcription Factors Demography |
| Zdroj: | CONICET Digital (CONICET) Consejo Nacional de Investigaciones Científicas y Técnicas instacron:CONICET |
| ISSN: | 1421-976X 0008-6568 |
| DOI: | 10.1159/000346278 |
| Popis: | 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. Fil: Shimizu, T.. Nihon University of Dentistry; Japón Fil: Deeley, K.. University of Pittsburgh; Estados Unidos Fil: Briseño Ruiz, J.. University of Pittsburgh; Estados Unidos Fil: Faraco Junior, I. M.. University of Pittsburgh; Estados Unidos Fil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Brancher, J. A.. Pontifical Catholic University of Paraná; Brasil Fil: Pecharki, G. D.. Pontifical Catholic University of Paraná; Brasil Fil: Küchler, E. C.. Universidade Federal Fluminense; Brasil Fil: Tannure, P. N.. Universidade Federal do Rio de Janeiro; Brasil Fil: Lips, A.. Universidade Federal do Rio de Janeiro; Brasil Fil: Vieira, T. C. S.. Universidade Federal Fluminense; Brasil Fil: Patir, A.. Istanbul Medipol Universit; Turquía Fil: Yildirim, M.. Istanbul University; Turquía Fil: Mereb, J. C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina Fil: Resick, J. M.. University of Pittsburgh; Estados Unidos Fil: Brandon, C. A.. University of Pittsburgh; Estados Unidos Fil: Cooper, M. E.. University of Pittsburgh; Estados Unidos Fil: Seymen, F.. Istanbul University; Turquía Fil: Costa, M. C.. Universidade Federal do Rio de Janeiro; Brasil Fil: Granjeiro, J. M.. Universidade Federal Fluminense; Brasil Fil: Trevilatto, P. C.. Pontifical Catholic University of Paraná; Brasil Fil: Orioli, I. M.. Universidade Federal do Rio de Janeiro; Brasil. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina Fil: Castilla, Eduardo Enrique. Instituto Oswaldo Cruz; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina Fil: Marazita, M. L.. University of Pittsburgh; Estados Unidos Fil: Vieira, A. R.. University of Pittsburgh; Estados Unidos |
| Databáze: | OpenAIRE |
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