Role of TRAV locus in low caries experience
- Autores
- Briseño Ruiz, Jessica; Shimizu, Takehiko; Deeley, Kathleen; Dizak, Piper M.; Ruff, Timothy D; Faraco Jr., Italo M.; Poletta, Fernando Adrián; Brancher, Joao A.; Pecharki, Giovana D.; Kuchler, Erika C; Tannure, Patricia N.; Lips, Andrea; Vieira, Thays C. S.; Patir, Asli; Koruyucu, Mine; Mereb, J. C.; Resick, Judith M.; Brandon, Carla A.; Letra, Ariadme; Silva, Renato M.; Cooper, Margaret E.; Seymen, Figen; Costa, Marcelo C.; Granjeiro, Jose M; Trevilatto, Paula C.; Orioli, Eeda M.; Castilla, Eduardo Enrique; Marazita, Mary L.; Vieira, Alexandre R.
- Año de publicación
- 2013
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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 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). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission 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 detects 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 that TRAV4 may have a role in protecting against caries.
Fil: Briseño Ruiz, Jessica. University of Pittsburgh; Estados Unidos
Fil: Shimizu, Takehiko. Nihon University of Dentistry at Matsudo; Japón
Fil: Deeley, Kathleen. University of Pittsburgh; Estados Unidos
Fil: Dizak, Piper M.. University of Pittsburgh; Estados Unidos
Fil: Ruff, Timothy D. University of Pittsburgh; Estados Unidos
Fil: Faraco Jr., Italo M.. University of Pittsburgh; Estados Unidos
Fil: Poletta, Fernando Adrián. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Buenos Aires; Argentina. Instituto de investigación en Porto Alegre; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Brancher, Joao A.. Universidade Federal do Paraná; Brasil
Fil: Pecharki, Giovana D.. Universidade Federal do Paraná; Brasil
Fil: Kuchler, Erika C. University of Pittsburgh; Estados Unidos
Fil: Tannure, Patricia N.. Universidade Federal do Rio de Janeiro; Brasil
Fil: Lips, Andrea. Universidade Federal Fluminense; Brasil
Fil: Vieira, Thays C. S.. Universidade Federal Fluminense; Brasil
Fil: Patir, Asli. Istanbul Medipol University; Turquía
Fil: Koruyucu, Mine. Istanbul University; Turquía
Fil: Mereb, J. C.. Estudio Colaborativo Latino Americano de Malformaciones Congénita; Argentina
Fil: Resick, Judith M.. University of Pittsburgh; Estados Unidos
Fil: Brandon, Carla A.. University of Pittsburgh; Estados Unidos
Fil: Letra, Ariadme. University of Texas Health Science Center at Houston; Estados Unidos
Fil: Silva, Renato M.. University of Texas Health Science Center at Houston; Estados Unidos
Fil: Cooper, Margaret E.. University of Pittsburgh; Estados Unidos
Fil: Seymen, Figen. Istanbul University; Turquía
Fil: Costa, Marcelo C.. Universidade Federal do Rio de Janeiro; Brasil
Fil: Granjeiro, Jose M. Universidade Federal Fluminense; Brasil
Fil: Trevilatto, Paula C.. Universidade Federal do Paraná; Brasil
Fil: Orioli, Eeda M.. Instituto Nacional de Metrologia, Qualidade e Tecnologia; Brasil
Fil: Castilla, Eduardo Enrique. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Buenos Aires; Argentina. Instituto de investigación en Porto Alegre; Brasil
Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos
Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos - Materia
- Trav
- Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/26169
Ver los metadatos del registro completo
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Role of TRAV locus in low caries experienceBriseño Ruiz, JessicaShimizu, TakehikoDeeley, KathleenDizak, Piper M.Ruff, Timothy DFaraco Jr., Italo M.Poletta, Fernando AdriánBrancher, Joao A.Pecharki, Giovana D.Kuchler, Erika CTannure, Patricia N.Lips, AndreaVieira, Thays C. S.Patir, AsliKoruyucu, MineMereb, J. C.Resick, Judith M.Brandon, Carla A.Letra, AriadmeSilva, Renato M.Cooper, Margaret E.Seymen, FigenCosta, Marcelo C.Granjeiro, Jose MTrevilatto, Paula C.Orioli, Eeda M.Castilla, Eduardo EnriqueMarazita, Mary L.Vieira, Alexandre R.Travhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Caries 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 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). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission 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 detects 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 that TRAV4 may have a role in protecting against caries.Fil: Briseño Ruiz, Jessica. University of Pittsburgh; Estados UnidosFil: Shimizu, Takehiko. Nihon University of Dentistry at Matsudo; JapónFil: Deeley, Kathleen. University of Pittsburgh; Estados UnidosFil: Dizak, Piper M.. University of Pittsburgh; Estados UnidosFil: Ruff, Timothy D. University of Pittsburgh; Estados UnidosFil: Faraco Jr., Italo M.. University of Pittsburgh; Estados UnidosFil: Poletta, Fernando Adrián. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Buenos Aires; Argentina. Instituto de investigación en Porto Alegre; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Brancher, Joao A.. Universidade Federal do Paraná; BrasilFil: Pecharki, Giovana D.. Universidade Federal do Paraná; BrasilFil: Kuchler, Erika C. University of Pittsburgh; Estados UnidosFil: Tannure, Patricia N.. Universidade Federal do Rio de Janeiro; BrasilFil: Lips, Andrea. Universidade Federal Fluminense; BrasilFil: Vieira, Thays C. S.. Universidade Federal Fluminense; BrasilFil: Patir, Asli. Istanbul Medipol University; TurquíaFil: Koruyucu, Mine. Istanbul University; TurquíaFil: Mereb, J. C.. Estudio Colaborativo Latino Americano de Malformaciones Congénita; ArgentinaFil: Resick, Judith M.. University of Pittsburgh; Estados UnidosFil: Brandon, Carla A.. University of Pittsburgh; Estados UnidosFil: Letra, Ariadme. University of Texas Health Science Center at Houston; Estados UnidosFil: Silva, Renato M.. University of Texas Health Science Center at Houston; Estados UnidosFil: Cooper, Margaret E.. University of Pittsburgh; Estados UnidosFil: Seymen, Figen. Istanbul University; TurquíaFil: Costa, Marcelo C.. Universidade Federal do Rio de Janeiro; BrasilFil: Granjeiro, Jose M. Universidade Federal Fluminense; BrasilFil: Trevilatto, Paula C.. Universidade Federal do Paraná; BrasilFil: Orioli, Eeda M.. Instituto Nacional de Metrologia, Qualidade e Tecnologia; BrasilFil: Castilla, Eduardo Enrique. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Buenos Aires; Argentina. Instituto de investigación en Porto Alegre; BrasilFil: Marazita, Mary L.. University of Pittsburgh; Estados UnidosFil: Vieira, Alexandre R.. University of Pittsburgh; Estados UnidosSpringer2013-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/26169Briseño Ruiz, Jessica; Shimizu, Takehiko; Deeley, Kathleen; Dizak, Piper M.; Ruff, Timothy D; et al.; Role of TRAV locus in low caries experience; Springer; Human Genetics.; 132; 9; 9-2013; 1015-10250340-6717CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-013-1313-4info:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007/s00439-013-1313-4info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744616/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 Técnicas2025-09-03T09:57:19Zoai:ri.conicet.gov.ar:11336/26169instacron: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:34982025-09-03 09:57:19.347CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.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 Trav |
| 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 |
| dc.creator.none.fl_str_mv |
Briseño Ruiz, Jessica Shimizu, Takehiko Deeley, Kathleen Dizak, Piper M. Ruff, Timothy D Faraco Jr., Italo M. Poletta, Fernando Adrián Brancher, Joao A. Pecharki, Giovana D. Kuchler, Erika C Tannure, Patricia N. Lips, Andrea Vieira, Thays C. S. Patir, Asli Koruyucu, Mine Mereb, J. C. Resick, Judith M. Brandon, Carla A. Letra, Ariadme Silva, Renato M. Cooper, Margaret E. Seymen, Figen Costa, Marcelo C. Granjeiro, Jose M Trevilatto, Paula C. Orioli, Eeda M. Castilla, Eduardo Enrique Marazita, Mary L. Vieira, Alexandre R. |
| 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 Adrián Brancher, Joao A. Pecharki, Giovana D. Kuchler, Erika C Tannure, Patricia N. Lips, Andrea Vieira, Thays C. S. Patir, Asli Koruyucu, Mine Mereb, J. C. Resick, Judith M. Brandon, Carla A. Letra, Ariadme Silva, Renato M. Cooper, Margaret E. Seymen, Figen Costa, Marcelo C. Granjeiro, Jose M Trevilatto, Paula C. Orioli, Eeda M. Castilla, Eduardo Enrique 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 Adrián Brancher, Joao A. Pecharki, Giovana D. Kuchler, Erika C Tannure, Patricia N. Lips, Andrea Vieira, Thays C. S. Patir, Asli Koruyucu, Mine Mereb, J. C. Resick, Judith M. Brandon, Carla A. Letra, Ariadme Silva, Renato M. Cooper, Margaret E. Seymen, Figen Costa, Marcelo C. Granjeiro, Jose M Trevilatto, Paula C. Orioli, Eeda M. Castilla, Eduardo Enrique 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.subject.none.fl_str_mv |
Trav |
| topic |
Trav |
| 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 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 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). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission 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 detects 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 that TRAV4 may have a role in protecting against caries. Fil: Briseño Ruiz, Jessica. University of Pittsburgh; Estados Unidos Fil: Shimizu, Takehiko. Nihon University of Dentistry at Matsudo; Japón Fil: Deeley, Kathleen. University of Pittsburgh; Estados Unidos Fil: Dizak, Piper M.. University of Pittsburgh; Estados Unidos Fil: Ruff, Timothy D. University of Pittsburgh; Estados Unidos Fil: Faraco Jr., Italo M.. University of Pittsburgh; Estados Unidos Fil: Poletta, Fernando Adrián. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Buenos Aires; Argentina. Instituto de investigación en Porto Alegre; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Brancher, Joao A.. Universidade Federal do Paraná; Brasil Fil: Pecharki, Giovana D.. Universidade Federal do Paraná; Brasil Fil: Kuchler, Erika C. University of Pittsburgh; Estados Unidos Fil: Tannure, Patricia N.. Universidade Federal do Rio de Janeiro; Brasil Fil: Lips, Andrea. Universidade Federal Fluminense; Brasil Fil: Vieira, Thays C. S.. Universidade Federal Fluminense; Brasil Fil: Patir, Asli. Istanbul Medipol University; Turquía Fil: Koruyucu, Mine. Istanbul University; Turquía Fil: Mereb, J. C.. Estudio Colaborativo Latino Americano de Malformaciones Congénita; Argentina Fil: Resick, Judith M.. University of Pittsburgh; Estados Unidos Fil: Brandon, Carla A.. University of Pittsburgh; Estados Unidos Fil: Letra, Ariadme. University of Texas Health Science Center at Houston; Estados Unidos Fil: Silva, Renato M.. University of Texas Health Science Center at Houston; Estados Unidos Fil: Cooper, Margaret E.. University of Pittsburgh; Estados Unidos Fil: Seymen, Figen. Istanbul University; Turquía Fil: Costa, Marcelo C.. Universidade Federal do Rio de Janeiro; Brasil Fil: Granjeiro, Jose M. Universidade Federal Fluminense; Brasil Fil: Trevilatto, Paula C.. Universidade Federal do Paraná; Brasil Fil: Orioli, Eeda M.. Instituto Nacional de Metrologia, Qualidade e Tecnologia; Brasil Fil: Castilla, Eduardo Enrique. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Buenos Aires; Argentina. Instituto de investigación en Porto Alegre; Brasil Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos |
| description |
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 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). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission 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 detects 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 that TRAV4 may have a role in protecting against caries. |
| publishDate |
2013 |
| dc.date.none.fl_str_mv |
2013-09 |
| 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 |
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article |
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publishedVersion |
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http://hdl.handle.net/11336/26169 Briseño Ruiz, Jessica; Shimizu, Takehiko; Deeley, Kathleen; Dizak, Piper M.; Ruff, Timothy D; et al.; Role of TRAV locus in low caries experience; Springer; Human Genetics.; 132; 9; 9-2013; 1015-1025 0340-6717 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/26169 |
| identifier_str_mv |
Briseño Ruiz, Jessica; Shimizu, Takehiko; Deeley, Kathleen; Dizak, Piper M.; Ruff, Timothy D; et al.; Role of TRAV locus in low caries experience; Springer; Human Genetics.; 132; 9; 9-2013; 1015-1025 0340-6717 CONICET Digital CONICET |
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eng |
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eng |
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