id CRUZ_8ce4b2470f91618a581655f7921a0dda
oai_identifier_str oai:www.arca.fiocruz.br:icict/12528
network_acronym_str CRUZ
network_name_str Repositório Institucional da FIOCRUZ (ARCA)
repository_id_str 2135
spelling Briseño-Ruiz, JessicaShimizu, TakehikoDeeley, KathleenDizak, 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, AndreaVieira, Thays C. S.Patir, AsliKoruyucu, MineMereb, Juan C.Resick, Judith M.Brandon, Carla A.Letra, AriadneSilva, Renato M.Cooper, Margaret E.Seymen, FigenCosta, Marcelo C.Granjeiro, José M.Trevilatto, Paula C.Orioli, Iêda M.Castilla, Eduardo E.Marazita, Mary L.Vieira, Alexandre R.2016-01-14T12:11:08Z2016-01-14T12:11:08Z2013BRISEÑO-RUIZ, Jessica; et al. Role of TRAV Locus in Low Caries Experience. Hum Genet., v.132, n.9, p.1015–1025, Sept. 2013.0340-6717https://www.arca.fiocruz.br/handle/icict/1252810.1007/s00439-013-1313-41432-1203engSpringer VerlagRole of TRAV Locus in Low Caries Experienceinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversity 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.CariesTRAV4 LocusLow Caries Experienceinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/12528/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALeduardo_castilla3_etal_IOC_2013.pdfeduardo_castilla3_etal_IOC_2013.pdfapplication/pdf1589582https://www.arca.fiocruz.br/bitstream/icict/12528/2/eduardo_castilla3_etal_IOC_2013.pdfda12596860deef9b52fce978ae3bf565MD52TEXTeduardo_castilla3_etal_IOC_2013.pdf.txteduardo_castilla3_etal_IOC_2013.pdf.txtExtracted texttext/plain49417https://www.arca.fiocruz.br/bitstream/icict/12528/3/eduardo_castilla3_etal_IOC_2013.pdf.txtbcf5b16f38c551e4b5b6d9bbb080e634MD53icict/125282023-09-05 10:30:51.624oai:www.arca.fiocruz.br:icict/12528Q0VTU8ODTyBOw4NPIEVYQ0xVU0lWQSBERSBESVJFSVRPUyBBVVRPUkFJUwoKQW8gYWNlaXRhciBvcyBURVJNT1MgZSBDT05EScOHw5VFUyBkZXN0YSBDRVNTw4NPLCBvIEFVVE9SIGUvb3UgVElUVUxBUiBkZSBkaXJlaXRvcwphdXRvcmFpcyBzb2JyZSBhIE9CUkEgZGUgcXVlIHRyYXRhIGVzdGUgZG9jdW1lbnRvOgoKKDEpIENFREUgZSBUUkFOU0ZFUkUsIHRvdGFsIGUgZ3JhdHVpdGFtZW50ZSwgw6AgRklPQ1JVWiAtIEZVTkRBw4fDg08gT1NXQUxETyBDUlVaLCBlbQpjYXLDoXRlciBwZXJtYW5lbnRlLCBpcnJldm9nw6F2ZWwgZSBOw4NPIEVYQ0xVU0lWTywgdG9kb3Mgb3MgZGlyZWl0b3MgcGF0cmltb25pYWlzIE7Dg08KQ09NRVJDSUFJUyBkZSB1dGlsaXphw6fDo28gZGEgT0JSQSBhcnTDrXN0aWNhIGUvb3UgY2llbnTDrWZpY2EgaW5kaWNhZGEgYWNpbWEsIGluY2x1c2l2ZSBvcyBkaXJlaXRvcwpkZSB2b3ogZSBpbWFnZW0gdmluY3VsYWRvcyDDoCBPQlJBLCBkdXJhbnRlIHRvZG8gbyBwcmF6byBkZSBkdXJhw6fDo28gZG9zIGRpcmVpdG9zIGF1dG9yYWlzLCBlbQpxdWFscXVlciBpZGlvbWEgZSBlbSB0b2RvcyBvcyBwYcOtc2VzOwoKKDIpIEFDRUlUQSBxdWUgYSBjZXNzw6NvIHRvdGFsIG7Do28gZXhjbHVzaXZhLCBwZXJtYW5lbnRlIGUgaXJyZXZvZ8OhdmVsIGRvcyBkaXJlaXRvcyBhdXRvcmFpcwpwYXRyaW1vbmlhaXMgbsOjbyBjb21lcmNpYWlzIGRlIHV0aWxpemHDp8OjbyBkZSBxdWUgdHJhdGEgZXN0ZSBkb2N1bWVudG8gaW5jbHVpLCBleGVtcGxpZmljYXRpdmFtZW50ZSwKb3MgZGlyZWl0b3MgZGUgZGlzcG9uaWJpbGl6YcOnw6NvIGUgY29tdW5pY2HDp8OjbyBww7pibGljYSBkYSBPQlJBLCBlbSBxdWFscXVlciBtZWlvIG91IHZlw61jdWxvLAppbmNsdXNpdmUgZW0gUmVwb3NpdMOzcmlvcyBEaWdpdGFpcywgYmVtIGNvbW8gb3MgZGlyZWl0b3MgZGUgcmVwcm9kdcOnw6NvLCBleGliacOnw6NvLCBleGVjdcOnw6NvLApkZWNsYW1hw6fDo28sIHJlY2l0YcOnw6NvLCBleHBvc2nDp8OjbywgYXJxdWl2YW1lbnRvLCBpbmNsdXPDo28gZW0gYmFuY28gZGUgZGFkb3MsIHByZXNlcnZhw6fDo28sIGRpZnVzw6NvLApkaXN0cmlidWnDp8OjbywgZGl2dWxnYcOnw6NvLCBlbXByw6lzdGltbywgdHJhZHXDp8OjbywgZHVibGFnZW0sIGxlZ2VuZGFnZW0sIGluY2x1c8OjbyBlbSBub3ZhcyBvYnJhcyBvdQpjb2xldMOibmVhcywgcmV1dGlsaXphw6fDo28sIGVkacOnw6NvLCBwcm9kdcOnw6NvIGRlIG1hdGVyaWFsIGRpZMOhdGljbyBlIGN1cnNvcyBvdSBxdWFscXVlciBmb3JtYSBkZQp1dGlsaXphw6fDo28gbsOjbyBjb21lcmNpYWw7CgooMykgUkVDT05IRUNFIHF1ZSBhIGNlc3PDo28gYXF1aSBlc3BlY2lmaWNhZGEgY29uY2VkZSDDoCBGSU9DUlVaIC0gRlVOREHDh8ODTyBPU1dBTERPCkNSVVogbyBkaXJlaXRvIGRlIGF1dG9yaXphciBxdWFscXVlciBwZXNzb2Eg4oCTIGbDrXNpY2Egb3UganVyw61kaWNhLCBww7pibGljYSBvdSBwcml2YWRhLCBuYWNpb25hbCBvdQplc3RyYW5nZWlyYSDigJMgYSBhY2Vzc2FyIGUgdXRpbGl6YXIgYW1wbGFtZW50ZSBhIE9CUkEsIHNlbSBleGNsdXNpdmlkYWRlLCBwYXJhIHF1YWlzcXVlcgpmaW5hbGlkYWRlcyBuw6NvIGNvbWVyY2lhaXM7CgooNCkgREVDTEFSQSBxdWUgYSBvYnJhIMOpIGNyaWHDp8OjbyBvcmlnaW5hbCBlIHF1ZSDDqSBvIHRpdHVsYXIgZG9zIGRpcmVpdG9zIGFxdWkgY2VkaWRvcyBlIGF1dG9yaXphZG9zLApyZXNwb25zYWJpbGl6YW5kby1zZSBpbnRlZ3JhbG1lbnRlIHBlbG8gY29udGXDumRvIGUgb3V0cm9zIGVsZW1lbnRvcyBxdWUgZmF6ZW0gcGFydGUgZGEgT0JSQSwKaW5jbHVzaXZlIG9zIGRpcmVpdG9zIGRlIHZveiBlIGltYWdlbSB2aW5jdWxhZG9zIMOgIE9CUkEsIG9icmlnYW5kby1zZSBhIGluZGVuaXphciB0ZXJjZWlyb3MgcG9yCmRhbm9zLCBiZW0gY29tbyBpbmRlbml6YXIgZSByZXNzYXJjaXIgYSBGSU9DUlVaIC0gRlVOREHDh8ODTyBPU1dBTERPIENSVVogZGUKZXZlbnR1YWlzIGRlc3Blc2FzIHF1ZSB2aWVyZW0gYSBzdXBvcnRhciwgZW0gcmF6w6NvIGRlIHF1YWxxdWVyIG9mZW5zYSBhIGRpcmVpdG9zIGF1dG9yYWlzIG91CmRpcmVpdG9zIGRlIHZveiBvdSBpbWFnZW0sIHByaW5jaXBhbG1lbnRlIG5vIHF1ZSBkaXogcmVzcGVpdG8gYSBwbMOhZ2lvIGUgdmlvbGHDp8O1ZXMgZGUgZGlyZWl0b3M7CgooNSkgQUZJUk1BIHF1ZSBjb25oZWNlIGEgUG9sw610aWNhIEluc3RpdHVjaW9uYWwgZGUgQWNlc3NvIEFiZXJ0byBkYSBGSU9DUlVaIC0gRlVOREHDh8ODTwpPU1dBTERPIENSVVogZSBhcyBkaXJldHJpemVzIHBhcmEgbyBmdW5jaW9uYW1lbnRvIGRvIHJlcG9zaXTDs3JpbyBpbnN0aXR1Y2lvbmFsIEFSQ0EuCgpBIFBvbMOtdGljYSBJbnN0aXR1Y2lvbmFsIGRlIEFjZXNzbyBBYmVydG8gZGEgRklPQ1JVWiAtIEZVTkRBw4fDg08gT1NXQUxETyBDUlVaIHJlc2VydmEKZXhjbHVzaXZhbWVudGUgYW8gQVVUT1Igb3MgZGlyZWl0b3MgbW9yYWlzIGUgb3MgdXNvcyBjb21lcmNpYWlzIHNvYnJlIGFzIG9icmFzIGRlIHN1YSBhdXRvcmlhCmUvb3UgdGl0dWxhcmlkYWRlLCBzZW5kbyBvcyB0ZXJjZWlyb3MgdXN1w6FyaW9zIHJlc3BvbnPDoXZlaXMgcGVsYSBhdHJpYnVpw6fDo28gZGUgYXV0b3JpYSBlIG1hbnV0ZW7Dp8OjbwpkYSBpbnRlZ3JpZGFkZSBkYSBPQlJBIGVtIHF1YWxxdWVyIHV0aWxpemHDp8Ojby4KCkEgUG9sw610aWNhIEluc3RpdHVjaW9uYWwgZGUgQWNlc3NvIEFiZXJ0byBkYSBGSU9DUlVaIC0gRlVOREHDh8ODTyBPU1dBTERPIENSVVoKcmVzcGVpdGEgb3MgY29udHJhdG9zIGUgYWNvcmRvcyBwcmVleGlzdGVudGVzIGRvcyBBdXRvcmVzIGNvbSB0ZXJjZWlyb3MsIGNhYmVuZG8gYW9zIEF1dG9yZXMKaW5mb3JtYXIgw6AgSW5zdGl0dWnDp8OjbyBhcyBjb25kacOnw7VlcyBlIG91dHJhcyByZXN0cmnDp8O1ZXMgaW1wb3N0YXMgcG9yIGVzdGVzIGluc3RydW1lbnRvcy4KRepositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-09-05T13:30:51Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Role of TRAV Locus in Low Caries Experience
title Role of TRAV Locus in Low Caries Experience
spellingShingle Role of TRAV Locus in Low Caries Experience
Briseño-Ruiz, Jessica
Caries
TRAV4 Locus
Low Caries Experience
title_short Role of TRAV Locus in Low Caries Experience
title_full Role of TRAV Locus in Low Caries Experience
title_fullStr Role of TRAV Locus in Low Caries Experience
title_full_unstemmed Role of TRAV Locus in Low Caries Experience
title_sort Role of TRAV Locus in Low Caries Experience
author Briseño-Ruiz, Jessica
author_facet 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.
author_role author
author2 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.
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
author
author
author
author
dc.contributor.author.fl_str_mv 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.
dc.subject.en.pt_BR.fl_str_mv Caries
TRAV4 Locus
Low Caries Experience
topic Caries
TRAV4 Locus
Low Caries Experience
description University of Pittsburgh. Department of Oral Biology. Pittsburgh, PA, USA.
publishDate 2013
dc.date.issued.fl_str_mv 2013
dc.date.accessioned.fl_str_mv 2016-01-14T12:11:08Z
dc.date.available.fl_str_mv 2016-01-14T12:11:08Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv BRISEÑO-RUIZ, Jessica; et al. Role of TRAV Locus in Low Caries Experience. Hum Genet., v.132, n.9, p.1015–1025, Sept. 2013.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/12528
dc.identifier.issn.none.fl_str_mv 0340-6717
dc.identifier.doi.none.fl_str_mv 10.1007/s00439-013-1313-4
dc.identifier.eissn.none.fl_str_mv 1432-1203
identifier_str_mv BRISEÑO-RUIZ, Jessica; et al. Role of TRAV Locus in Low Caries Experience. Hum Genet., v.132, n.9, p.1015–1025, Sept. 2013.
0340-6717
10.1007/s00439-013-1313-4
1432-1203
url https://www.arca.fiocruz.br/handle/icict/12528
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer Verlag
publisher.none.fl_str_mv Springer Verlag
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/12528/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/12528/2/eduardo_castilla3_etal_IOC_2013.pdf
https://www.arca.fiocruz.br/bitstream/icict/12528/3/eduardo_castilla3_etal_IOC_2013.pdf.txt
bitstream.checksum.fl_str_mv 5a560609d32a3863062d77ff32785d58
da12596860deef9b52fce978ae3bf565
bcf5b16f38c551e4b5b6d9bbb080e634
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
_version_ 1798324857365069824