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

Autores: Shimizu, T.; Deeley, K.; Briseño Ruiz, J.; Faraco Junior, I. M.; Poletta, Fernando Adrián; 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, Eduardo Enrique; Marazita, M. L.; Vieira, A. R.
Año de publicación: 2013
Idioma: inglés
Tipo de recurso: artículo
Estado: versión publicada
Descripción: 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
Materia: Dental caries susceptibility
Epidemiology
Genetics
Immune response genes
Saliva
Nivel de accesibilidad: acceso abierto
Condiciones de uso: https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
Institución: Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador: oai:ri.conicet.gov.ar:11336/22586

Acceder

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network_name_str	CONICET Digital (CONICET)
spelling	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to cariesShimizu, T.Deeley, K.Briseño Ruiz, J.Faraco Junior, I. M.Poletta, Fernando AdriánBrancher, 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, Eduardo EnriqueMarazita, M. L.Vieira, A. R.Dental caries susceptibilityEpidemiologyGeneticsImmune response genesSalivahttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Caries 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 UnidosKarger2013-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/22586Shimizu, T.; Deeley, K.; Briseño Ruiz, J.; Faraco Junior, I. M.; Poletta, Fernando Adrián; et al.; Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries; Karger; Caries Research; 47; 4; 1-2013; 273-2830008-6568CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/FullText/346278info:eu-repo/semantics/altIdentifier/doi/10.1159/000346278info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3737367/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:43:59Zoai:ri.conicet.gov.ar:11336/22586instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 14:43:59.654CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
title	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
spellingShingle	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries Shimizu, T. Dental caries susceptibility Epidemiology Genetics Immune response genes Saliva
title_short	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
title_full	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
title_fullStr	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
title_full_unstemmed	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
title_sort	Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries
dc.creator.none.fl_str_mv	Shimizu, T. Deeley, K. Briseño Ruiz, J. Faraco Junior, I. M. Poletta, Fernando Adrián 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, Eduardo Enrique Marazita, M. L. Vieira, A. R.
author	Shimizu, T.
author_facet	Shimizu, T. Deeley, K. Briseño Ruiz, J. Faraco Junior, I. M. Poletta, Fernando Adrián 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, Eduardo Enrique Marazita, M. L. Vieira, A. R.
author_role	author
author2	Deeley, K. Briseño Ruiz, J. Faraco Junior, I. M. Poletta, Fernando Adrián 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, Eduardo Enrique Marazita, M. L. Vieira, A. R.
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Dental caries susceptibility Epidemiology Genetics Immune response genes Saliva
topic	Dental caries susceptibility Epidemiology Genetics Immune response genes Saliva
purl_subject.fl_str_mv	https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv	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
description	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.
publishDate	2013
dc.date.none.fl_str_mv	2013-01
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/11336/22586 Shimizu, T.; Deeley, K.; Briseño Ruiz, J.; Faraco Junior, I. M.; Poletta, Fernando Adrián; et al.; Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries; Karger; Caries Research; 47; 4; 1-2013; 273-283 0008-6568 CONICET Digital CONICET
url	http://hdl.handle.net/11336/22586
identifier_str_mv	Shimizu, T.; Deeley, K.; Briseño Ruiz, J.; Faraco Junior, I. M.; Poletta, Fernando Adrián; et al.; Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries; Karger; Caries Research; 47; 4; 1-2013; 273-283 0008-6568 CONICET Digital CONICET
dc.language.none.fl_str_mv	eng
language	eng
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dc.publisher.none.fl_str_mv	Karger
publisher.none.fl_str_mv	Karger
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repository.mail.fl_str_mv	dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries

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