Enamel Formation Genes Influence Enamel Microhardness Before and After Cariogenic Challenge

There is evidence for a genetic component in caries susceptibility, and studies in humans have suggested that variation in enamel formation genes may contribute to caries. For the present study, we used DNA samples collected from 1,831 individuals from various population data sets. Single nucleotide polymorphism markers were genotyped in selected genes (ameloblastin, amelogenin, enamelin, tuftelin, and tuftelin interacting protein 11) that influence enamel formation. Allele and genotype frequencies were compared between groups with distinct caries experience. Associations with caries experience can be detected but they are not necessarily replicated in all population groups and the most expressive results was for a marker in AMELX (p = 0.0007). To help interpret these results, we evaluated if enamel microhardness changes under simulated cariogenic challenges are associated with genetic variations in these same genes. After creating an artificial caries lesion, associations could be seen between genetic variation in TUFT1 (p = 0.006) and TUIP11 (p = 0.0006) with enamel microhardness. Our results suggest that the influence of genetic variation of enamel formation genes may influence the dynamic interactions between the enamel surface and the oral cavity. © 2012 Shimizu et al

Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries

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; JapónFil: Deeley, K.. University of Pittsburgh; Estados UnidosFil: Briseño Ruiz, J.. University of Pittsburgh; Estados UnidosFil: Faraco Junior, I. M.. University of Pittsburgh; Estados UnidosFil: 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.; ArgentinaFil: Brancher, J. A.. Pontifical Catholic University of Paraná; BrasilFil: Pecharki, G. D.. Pontifical Catholic University of Paraná; BrasilFil: Küchler, E. C.. Universidade Federal Fluminense; BrasilFil: Tannure, P. N.. Universidade Federal do Rio de Janeiro; BrasilFil: Lips, A.. Universidade Federal do Rio de Janeiro; BrasilFil: Vieira, T. C. S.. Universidade Federal Fluminense; BrasilFil: Patir, A.. Istanbul Medipol Universit; TurquíaFil: Yildirim, M.. Istanbul University; TurquíaFil: Mereb, J. C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Resick, J. M.. University of Pittsburgh; Estados UnidosFil: Brandon, C. A.. University of Pittsburgh; Estados UnidosFil: Cooper, M. E.. University of Pittsburgh; Estados UnidosFil: Seymen, F.. Istanbul University; TurquíaFil: Costa, M. C.. Universidade Federal do Rio de Janeiro; BrasilFil: Granjeiro, J. M.. Universidade Federal Fluminense; BrasilFil: Trevilatto, P. C.. Pontifical Catholic University of Paraná; BrasilFil: Orioli, I. M.. Universidade Federal do Rio de Janeiro; Brasil. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: 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.; ArgentinaFil: Marazita, M. L.. University of Pittsburgh; Estados UnidosFil: Vieira, A. R.. University of Pittsburgh; Estados Unido

Enamel Formation Genes Influence Enamel Microhardness Before and After Cariogenic Challenge

Abstract There is evidence for a genetic component in caries susceptibility, and studies in humans have suggested that variation in enamel formation genes may contribute to caries. For the present study, we used DNA samples collected from 1,831 individuals from various population data sets. Single nucleotide polymorphism markers were genotyped in selected genes (ameloblastin, amelogenin, enamelin, tuftelin, and tuftelin interacting protein 11) that influence enamel formation. Allele and genotype frequencies were compared between groups with distinct caries experience. Associations with caries experience can be detected but they are not necessarily replicated in all population groups and the most expressive results was for a marker in AMELX (p = 0.0007). To help interpret these results, we evaluated if enamel microhardness changes under simulated cariogenic challenges are associated with genetic variations in these same genes. After creating an artificial caries lesion, associations could be seen between genetic variation in TUFT1 (p = 0.006) and TUIP11 (p = 0.0006) with enamel microhardness. Our results suggest that the influence of genetic variation of enamel formation genes may influence the dynamic interactions between the enamel surface and the oral cavity

Terapia Comunitária Integrativa on-line no enfrentamento à COVID-19: perfil e mudanças na vida de participantes

INTRODUÇÃO: a Terapia Comunitária Integrativa (TCI), é uma Prática Integrativa e Complementar criada pelo psiquiatra Adalberto de Paula Barreto há mais de 30 anos. Consiste em atividade grupal, de cuidado em saúde mental, concebida na modalidade presencial. Durante o período da pandemia COVID-19, com o isolamento social necessário, essa prática necessitou adaptação, sendo organizada na modalidade on-line pela Associação Brasileira de Terapia Comunitária Integrativa (ABRATECOM), como estratégia de enfrentamento do momento de isolamento, das angústias e da perda de amigos e familiares. O objetivo foi avaliar o perfil epidemiológico dos participantes das rodas de TCI on-line e as mudanças relativas ao período da pandemia. METODOLOGIA: estudo descritivo, observacional, transversal, aprovado em comitê de ética (CAAE 36850620.4.0000.0105). Foram acompanhadas 24 rodas de TCI on-line,realizadas durante o período de setembro a novembro de 2020, pelo criador da metodologia e outros terapeutas comunitários. Na abertura da sala virtual, via plataforma Zoom, os participantes eram convidados a responder o formulário do Google Forms, com questões sobre gênero, grupo étnico, idade, escolaridade, país e estado onde mora, atividade profissional, ocupação no período da pandemia, se conhece ou perdeu algum familiar/amigo durante pandemia, número de rodas que já participou e se tem formação em TCI. RESULTADOS E DISCUSSÃO: 168 formulários foram respondidos, sendo o perfil predominante: sexo feminino (91,1% - 153), branco (60,7% - 102), faixa etária entre 30 a 59 anos (63% - 106), com ensino superior completo (79,2% - 133). A amostra predominante residia no Brasil (94,6% - 159), nas regiões Sudeste (48,8% - 82) e Nordeste (31,5% - 53). Com relação à ocupação durante o período da pandemia, 47% (79) estavam trabalhando na modalidade home-office. Foram 98 pessoas (58,3%) que conheciam ou perderam algum familiar/amigo devido COVID-19. A maioria dos participantes já entraram em 11 ou mais rodas (53% - 89), sendo que 74 participantes (44%) estavam em formação ou já eram terapeutas comunitários. Ao conhecer o perfil dos participantes, os dados sugerem que uma maior escolaridade pode favorecer a participação, possivelmente por ter maior acesso às redes sociais e tecnologias. Outro ponto relevante é o predomínio nas regiões onde se iniciou a TCI (Nordeste) e onde há grande atividade dos pólos de TCI (Sudeste). Percebe-se que também há uma tendência à regularidade de participação ao invés de apenas uma participação pontual em roda de TCI. Grande parcela da amostra teve sua rotina e funcionalidade alterada em decorrência da pandemia, bem como contato com familiares ou amigos contaminados ou quefaleceram em decorrência da infecção. CONCLUSÕES: Por meio do conhecimento do perfil dos participantes, é possível elaborar estratégias para aumentar a vinculação desses participantes e também pensar em alternativas para facilitar o acesso às pessoas com menor escolaridade ou dificuldade de acesso às plataformas online. É essencial a divulgação das rodas on-line paraoutras regiões do país, de forma a ampliar o acesso à prática, que pode auxiliar no cuidado às pessoas em isolamento domiciliar, com angústias e incertezas, fragilizadas por perdas de amigos e familiares

Role of TRAV Locus in Low Caries Experience

Submitted by sandra infurna ([email protected]) on 2016-01-14T10:57:58Z No. of bitstreams: 1 eduardo_castilla3_etal_IOC_2013.pdf: 1589582 bytes, checksum: da12596860deef9b52fce978ae3bf565 (MD5)Approved for entry into archive by sandra infurna ([email protected]) on 2016-01-14T12:11:08Z (GMT) No. of bitstreams: 1 eduardo_castilla3_etal_IOC_2013.pdf: 1589582 bytes, checksum: da12596860deef9b52fce978ae3bf565 (MD5)Made available in DSpace on 2016-01-14T12:11:08Z (GMT). No. of bitstreams: 1 eduardo_castilla3_etal_IOC_2013.pdf: 1589582 bytes, checksum: da12596860deef9b52fce978ae3bf565 (MD5) Previous issue date: 2013University 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.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