Genetic mapping of high caries experience on human chromosome 13

Autores
Küchler, Erika C.; Deeley, Kathleen; Ho, Bao; Linkowski, Samantha; Meyer, Chelsea; Noel, Jacqueline; Kouzbari, M. Zahir; Bezamat, Mariana; Granjeiro, José M.; Antunes, Leonardo S.; Antunes, Livia Azeredo; Abreu, Fernanda Volpe de; Costa, Marcelo C.; Tannure, Patricia N.; Seymen, Figen; Koruyucu, Mine; Patir, Asli; Mereb, Juan C.; Poletta, Fernando Adrián; Castilla, Eduardo Enrique; Orioli, Ieda M.; Marazita, Mary L.; Vieira, Alexandre R.
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Our previous genome-wide linkage scan mapped five loci for caries experience. The purpose of this study was to fine map one of these loci, the locus 13q31.1, in order to identify genetic contributors to caries. Methods: Seventy-two pedigrees from the Philippines were studied. Caries experience was recorded and DNA was extracted from blood samples obtained from all subjects. Sixty-one single nucleotide polymorphisms (SNPs) in 13q31.1 were genotyped. Association between caries experience and alleles was tested. We also studied 1,481 DNA samples obtained from saliva of subjects from the USA, 918 children from Brazil, and 275 children from Turkey, in order to follow up the results found in the Filipino families. We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. Mutation analysis was also performed in 33 Filipino individuals of a segment of 13q31.1 that is highly conserved in mammals. Results: Statistically significant association with high caries experience was found for 11 markers in 13q31.1 in the Filipino families. Haplotype analysis also confirmed these results. In the populations used for follow-up purposes, associations were found between high caries experience and a subset of these markers. Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. When the sequence has the allele C of rs17074565, the potential transcription factors binding the sequence are GR and GATA1. When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. The expression of GR in whole saliva was higher in individuals with low caries experience when compared to individuals with high caries experience (p = 0.046). No mutations were found in the highly conserved sequence. Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. The rs17074565 is located in an intergenic region and is predicted to disrupt the binding sites of two different transcription factors that might be involved with caries experience. GR expression in saliva may be a biomarker for caries risk and should be further explored.
Fil: Küchler, Erika C.. University of Pittsburgh; Estados Unidos
Fil: Deeley, Kathleen. University of Pittsburgh; Estados Unidos
Fil: Ho, Bao. University of Pittsburgh; Estados Unidos
Fil: Linkowski, Samantha. University of Pittsburgh; Estados Unidos
Fil: Meyer, Chelsea. University of Pittsburgh; Estados Unidos
Fil: Noel, Jacqueline. University of Pittsburgh; Estados Unidos
Fil: Kouzbari, M. Zahir. University of Pittsburgh; Estados Unidos
Fil: Bezamat, Mariana. University of Pittsburgh; Estados Unidos
Fil: Granjeiro, José M.. Universidade Federal Fluminense; Brasil
Fil: Antunes, Leonardo S.. Universidade Federal Fluminense; Brasil
Fil: Antunes, Livia Azeredo. Universidade Federal Fluminense; Brasil
Fil: Abreu, Fernanda Volpe de. Universidade Federal Fluminense; Brasil
Fil: Costa, Marcelo C.. Universidade Federal do Rio de Janeiro; Brasil
Fil: Tannure, Patricia N.. Veiga de Almeida; Brasil. Salgado de Oliveira University; Brasil
Fil: Seymen, Figen. Istanbul University; Turquía
Fil: Koruyucu, Mine. Istanbul University; Turquía
Fil: Patir, Asli. Istanbul University; Turquía
Fil: Mereb, Juan C.. Estudio Colaborativo Latinoamericano de Malformaciones Congénitas; Argentina. Hospital de Área El Boóon; Argentina
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. Oswaldo Cruz Foundation; Brasil
Fil: Castilla, Eduardo Enrique. Oswaldo Cruz Foundation; 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: Orioli, Ieda M.. Universidade Federal do Rio de Janeiro; Brasil
Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos
Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos
Materia
Genetics
Oral health
Polymorphism
Caries
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/23882

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network_name_str CONICET Digital (CONICET)
spelling Genetic mapping of high caries experience on human chromosome 13Küchler, Erika C.Deeley, KathleenHo, BaoLinkowski, SamanthaMeyer, ChelseaNoel, JacquelineKouzbari, M. ZahirBezamat, MarianaGranjeiro, José M.Antunes, Leonardo S.Antunes, Livia AzeredoAbreu, Fernanda Volpe deCosta, Marcelo C.Tannure, Patricia N.Seymen, FigenKoruyucu, MinePatir, AsliMereb, Juan C.Poletta, Fernando AdriánCastilla, Eduardo EnriqueOrioli, Ieda M.Marazita, Mary L.Vieira, Alexandre R.GeneticsOral healthPolymorphismCarieshttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Background: Our previous genome-wide linkage scan mapped five loci for caries experience. The purpose of this study was to fine map one of these loci, the locus 13q31.1, in order to identify genetic contributors to caries. Methods: Seventy-two pedigrees from the Philippines were studied. Caries experience was recorded and DNA was extracted from blood samples obtained from all subjects. Sixty-one single nucleotide polymorphisms (SNPs) in 13q31.1 were genotyped. Association between caries experience and alleles was tested. We also studied 1,481 DNA samples obtained from saliva of subjects from the USA, 918 children from Brazil, and 275 children from Turkey, in order to follow up the results found in the Filipino families. We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. Mutation analysis was also performed in 33 Filipino individuals of a segment of 13q31.1 that is highly conserved in mammals. Results: Statistically significant association with high caries experience was found for 11 markers in 13q31.1 in the Filipino families. Haplotype analysis also confirmed these results. In the populations used for follow-up purposes, associations were found between high caries experience and a subset of these markers. Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. When the sequence has the allele C of rs17074565, the potential transcription factors binding the sequence are GR and GATA1. When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. The expression of GR in whole saliva was higher in individuals with low caries experience when compared to individuals with high caries experience (p = 0.046). No mutations were found in the highly conserved sequence. Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. The rs17074565 is located in an intergenic region and is predicted to disrupt the binding sites of two different transcription factors that might be involved with caries experience. GR expression in saliva may be a biomarker for caries risk and should be further explored.Fil: Küchler, Erika C.. University of Pittsburgh; Estados UnidosFil: Deeley, Kathleen. University of Pittsburgh; Estados UnidosFil: Ho, Bao. University of Pittsburgh; Estados UnidosFil: Linkowski, Samantha. University of Pittsburgh; Estados UnidosFil: Meyer, Chelsea. University of Pittsburgh; Estados UnidosFil: Noel, Jacqueline. University of Pittsburgh; Estados UnidosFil: Kouzbari, M. Zahir. University of Pittsburgh; Estados UnidosFil: Bezamat, Mariana. University of Pittsburgh; Estados UnidosFil: Granjeiro, José M.. Universidade Federal Fluminense; BrasilFil: Antunes, Leonardo S.. Universidade Federal Fluminense; BrasilFil: Antunes, Livia Azeredo. Universidade Federal Fluminense; BrasilFil: Abreu, Fernanda Volpe de. Universidade Federal Fluminense; BrasilFil: Costa, Marcelo C.. Universidade Federal do Rio de Janeiro; BrasilFil: Tannure, Patricia N.. Veiga de Almeida; Brasil. Salgado de Oliveira University; BrasilFil: Seymen, Figen. Istanbul University; TurquíaFil: Koruyucu, Mine. Istanbul University; TurquíaFil: Patir, Asli. Istanbul University; TurquíaFil: Mereb, Juan C.. Estudio Colaborativo Latinoamericano de Malformaciones Congénitas; Argentina. Hospital de Área El Boóon; ArgentinaFil: 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. Oswaldo Cruz Foundation; BrasilFil: Castilla, Eduardo Enrique. Oswaldo Cruz Foundation; 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: Orioli, Ieda M.. Universidade Federal do Rio de Janeiro; BrasilFil: Marazita, Mary L.. University of Pittsburgh; Estados UnidosFil: Vieira, Alexandre R.. University of Pittsburgh; Estados UnidosBioMed Central2013-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/23882Küchler, Erika C.; Deeley, Kathleen; Ho, Bao; Linkowski, Samantha; Meyer, Chelsea; et al.; Genetic mapping of high caries experience on human chromosome 13; BioMed Central; BMC Medical Genetics; 14; 116; 11-2013; 1-101471-2350CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-14-116info:eu-repo/semantics/altIdentifier/doi/10.1186/1471-2350-14-116info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:26:51Zoai:ri.conicet.gov.ar:11336/23882instacron: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:34982025-09-29 10:26:51.996CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genetic mapping of high caries experience on human chromosome 13
title Genetic mapping of high caries experience on human chromosome 13
spellingShingle Genetic mapping of high caries experience on human chromosome 13
Küchler, Erika C.
Genetics
Oral health
Polymorphism
Caries
title_short Genetic mapping of high caries experience on human chromosome 13
title_full Genetic mapping of high caries experience on human chromosome 13
title_fullStr Genetic mapping of high caries experience on human chromosome 13
title_full_unstemmed Genetic mapping of high caries experience on human chromosome 13
title_sort Genetic mapping of high caries experience on human chromosome 13
dc.creator.none.fl_str_mv Küchler, Erika C.
Deeley, Kathleen
Ho, Bao
Linkowski, Samantha
Meyer, Chelsea
Noel, Jacqueline
Kouzbari, M. Zahir
Bezamat, Mariana
Granjeiro, José M.
Antunes, Leonardo S.
Antunes, Livia Azeredo
Abreu, Fernanda Volpe de
Costa, Marcelo C.
Tannure, Patricia N.
Seymen, Figen
Koruyucu, Mine
Patir, Asli
Mereb, Juan C.
Poletta, Fernando Adrián
Castilla, Eduardo Enrique
Orioli, Ieda M.
Marazita, Mary L.
Vieira, Alexandre R.
author Küchler, Erika C.
author_facet Küchler, Erika C.
Deeley, Kathleen
Ho, Bao
Linkowski, Samantha
Meyer, Chelsea
Noel, Jacqueline
Kouzbari, M. Zahir
Bezamat, Mariana
Granjeiro, José M.
Antunes, Leonardo S.
Antunes, Livia Azeredo
Abreu, Fernanda Volpe de
Costa, Marcelo C.
Tannure, Patricia N.
Seymen, Figen
Koruyucu, Mine
Patir, Asli
Mereb, Juan C.
Poletta, Fernando Adrián
Castilla, Eduardo Enrique
Orioli, Ieda M.
Marazita, Mary L.
Vieira, Alexandre R.
author_role author
author2 Deeley, Kathleen
Ho, Bao
Linkowski, Samantha
Meyer, Chelsea
Noel, Jacqueline
Kouzbari, M. Zahir
Bezamat, Mariana
Granjeiro, José M.
Antunes, Leonardo S.
Antunes, Livia Azeredo
Abreu, Fernanda Volpe de
Costa, Marcelo C.
Tannure, Patricia N.
Seymen, Figen
Koruyucu, Mine
Patir, Asli
Mereb, Juan C.
Poletta, Fernando Adrián
Castilla, Eduardo Enrique
Orioli, Ieda M.
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
dc.subject.none.fl_str_mv Genetics
Oral health
Polymorphism
Caries
topic Genetics
Oral health
Polymorphism
Caries
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Our previous genome-wide linkage scan mapped five loci for caries experience. The purpose of this study was to fine map one of these loci, the locus 13q31.1, in order to identify genetic contributors to caries. Methods: Seventy-two pedigrees from the Philippines were studied. Caries experience was recorded and DNA was extracted from blood samples obtained from all subjects. Sixty-one single nucleotide polymorphisms (SNPs) in 13q31.1 were genotyped. Association between caries experience and alleles was tested. We also studied 1,481 DNA samples obtained from saliva of subjects from the USA, 918 children from Brazil, and 275 children from Turkey, in order to follow up the results found in the Filipino families. We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. Mutation analysis was also performed in 33 Filipino individuals of a segment of 13q31.1 that is highly conserved in mammals. Results: Statistically significant association with high caries experience was found for 11 markers in 13q31.1 in the Filipino families. Haplotype analysis also confirmed these results. In the populations used for follow-up purposes, associations were found between high caries experience and a subset of these markers. Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. When the sequence has the allele C of rs17074565, the potential transcription factors binding the sequence are GR and GATA1. When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. The expression of GR in whole saliva was higher in individuals with low caries experience when compared to individuals with high caries experience (p = 0.046). No mutations were found in the highly conserved sequence. Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. The rs17074565 is located in an intergenic region and is predicted to disrupt the binding sites of two different transcription factors that might be involved with caries experience. GR expression in saliva may be a biomarker for caries risk and should be further explored.
Fil: Küchler, Erika C.. University of Pittsburgh; Estados Unidos
Fil: Deeley, Kathleen. University of Pittsburgh; Estados Unidos
Fil: Ho, Bao. University of Pittsburgh; Estados Unidos
Fil: Linkowski, Samantha. University of Pittsburgh; Estados Unidos
Fil: Meyer, Chelsea. University of Pittsburgh; Estados Unidos
Fil: Noel, Jacqueline. University of Pittsburgh; Estados Unidos
Fil: Kouzbari, M. Zahir. University of Pittsburgh; Estados Unidos
Fil: Bezamat, Mariana. University of Pittsburgh; Estados Unidos
Fil: Granjeiro, José M.. Universidade Federal Fluminense; Brasil
Fil: Antunes, Leonardo S.. Universidade Federal Fluminense; Brasil
Fil: Antunes, Livia Azeredo. Universidade Federal Fluminense; Brasil
Fil: Abreu, Fernanda Volpe de. Universidade Federal Fluminense; Brasil
Fil: Costa, Marcelo C.. Universidade Federal do Rio de Janeiro; Brasil
Fil: Tannure, Patricia N.. Veiga de Almeida; Brasil. Salgado de Oliveira University; Brasil
Fil: Seymen, Figen. Istanbul University; Turquía
Fil: Koruyucu, Mine. Istanbul University; Turquía
Fil: Patir, Asli. Istanbul University; Turquía
Fil: Mereb, Juan C.. Estudio Colaborativo Latinoamericano de Malformaciones Congénitas; Argentina. Hospital de Área El Boóon; Argentina
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. Oswaldo Cruz Foundation; Brasil
Fil: Castilla, Eduardo Enrique. Oswaldo Cruz Foundation; 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: Orioli, Ieda M.. Universidade Federal do Rio de Janeiro; Brasil
Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos
Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos
description Background: Our previous genome-wide linkage scan mapped five loci for caries experience. The purpose of this study was to fine map one of these loci, the locus 13q31.1, in order to identify genetic contributors to caries. Methods: Seventy-two pedigrees from the Philippines were studied. Caries experience was recorded and DNA was extracted from blood samples obtained from all subjects. Sixty-one single nucleotide polymorphisms (SNPs) in 13q31.1 were genotyped. Association between caries experience and alleles was tested. We also studied 1,481 DNA samples obtained from saliva of subjects from the USA, 918 children from Brazil, and 275 children from Turkey, in order to follow up the results found in the Filipino families. We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. Mutation analysis was also performed in 33 Filipino individuals of a segment of 13q31.1 that is highly conserved in mammals. Results: Statistically significant association with high caries experience was found for 11 markers in 13q31.1 in the Filipino families. Haplotype analysis also confirmed these results. In the populations used for follow-up purposes, associations were found between high caries experience and a subset of these markers. Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. When the sequence has the allele C of rs17074565, the potential transcription factors binding the sequence are GR and GATA1. When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. The expression of GR in whole saliva was higher in individuals with low caries experience when compared to individuals with high caries experience (p = 0.046). No mutations were found in the highly conserved sequence. Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. The rs17074565 is located in an intergenic region and is predicted to disrupt the binding sites of two different transcription factors that might be involved with caries experience. GR expression in saliva may be a biomarker for caries risk and should be further explored.
publishDate 2013
dc.date.none.fl_str_mv 2013-11
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/11336/23882
Küchler, Erika C.; Deeley, Kathleen; Ho, Bao; Linkowski, Samantha; Meyer, Chelsea; et al.; Genetic mapping of high caries experience on human chromosome 13; BioMed Central; BMC Medical Genetics; 14; 116; 11-2013; 1-10
1471-2350
CONICET Digital
CONICET
url http://hdl.handle.net/11336/23882
identifier_str_mv Küchler, Erika C.; Deeley, Kathleen; Ho, Bao; Linkowski, Samantha; Meyer, Chelsea; et al.; Genetic mapping of high caries experience on human chromosome 13; BioMed Central; BMC Medical Genetics; 14; 116; 11-2013; 1-10
1471-2350
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-14-116
info:eu-repo/semantics/altIdentifier/doi/10.1186/1471-2350-14-116
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
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repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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