Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate

Autores
Fonseca, Renata F.; de Carvalho, Flávia M.; Poletta, Fernando Adrián; Montaner, David; Dopazo, Joaquin; Mereb, Juan C.; Moreira, Miguel A. M.; Seuanez, Hector N.; Vieira, Alexandre R.; Castilla, Eduardo Enrique; Orioli, Iêda M.
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X‐linked syndromes [midline 1 (MID1), oral‐facial‐digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X‐linked genes in the etiology of isolated CL±P in a South American population through a family‐based genome‐wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11‐kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P‐associated X‐chromosome genomic segments.
Fil: Fonseca, Renata F.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil
Fil: de Carvalho, Flávia M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
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. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Fil: Montaner, David. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; España
Fil: Dopazo, Joaquin. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; España
Fil: Mereb, Juan C.. Provincia de Río Negro. Ministerio de Salud. Hospital De Área El Bolsón; Argentina
Fil: Moreira, Miguel A. M.. National Cancer Institute; Brasil
Fil: Seuanez, Hector N.. National Cancer Institute; Brasil. Universidade Federal do Rio de Janeiro; Brasil
Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos
Fil: Castilla, Eduardo Enrique. 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. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Fil: Orioli, Iêda M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil
Materia
Cleft Lip/Palate
X Chromosome
Microarray
Dmd Gene
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/42860
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/42860
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palateFonseca, Renata F.de Carvalho, Flávia M.Poletta, Fernando AdriánMontaner, DavidDopazo, JoaquinMereb, Juan C.Moreira, Miguel A. M.Seuanez, Hector N.Vieira, Alexandre R.Castilla, Eduardo EnriqueOrioli, Iêda M.Cleft Lip/PalateX ChromosomeMicroarrayDmd Genehttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X‐linked syndromes [midline 1 (MID1), oral‐facial‐digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X‐linked genes in the etiology of isolated CL±P in a South American population through a family‐based genome‐wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11‐kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P‐associated X‐chromosome genomic segments.Fil: Fonseca, Renata F.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; BrasilFil: de Carvalho, Flávia M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; BrasilFil: 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. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; BrasilFil: Montaner, David. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; EspañaFil: Dopazo, Joaquin. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; EspañaFil: Mereb, Juan C.. Provincia de Río Negro. Ministerio de Salud. Hospital De Área El Bolsón; ArgentinaFil: Moreira, Miguel A. M.. National Cancer Institute; BrasilFil: Seuanez, Hector N.. National Cancer Institute; Brasil. Universidade Federal do Rio de Janeiro; BrasilFil: Vieira, Alexandre R.. University of Pittsburgh; Estados UnidosFil: Castilla, Eduardo Enrique. 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. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; BrasilFil: Orioli, Iêda M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; BrasilWiley Blackwell Publishing, Inc2015-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/42860Fonseca, Renata F.; de Carvalho, Flávia M.; Poletta, Fernando Adrián; Montaner, David; Dopazo, Joaquin; et al.; Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate; Wiley Blackwell Publishing, Inc; European Journal Of Oral Sciences; 123; 5; 10-2015; 381-3840909-8836CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1111/eos.12212info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/eos.12212info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:02:05Zoai:ri.conicet.gov.ar:11336/42860instacron: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 10:02:05.989CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
title Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
spellingShingle Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
Fonseca, Renata F.
Cleft Lip/Palate
X Chromosome
Microarray
Dmd Gene
title_short Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
title_full Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
title_fullStr Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
title_full_unstemmed Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
title_sort Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate
dc.creator.none.fl_str_mv Fonseca, Renata F.
de Carvalho, Flávia M.
Poletta, Fernando Adrián
Montaner, David
Dopazo, Joaquin
Mereb, Juan C.
Moreira, Miguel A. M.
Seuanez, Hector N.
Vieira, Alexandre R.
Castilla, Eduardo Enrique
Orioli, Iêda M.
author Fonseca, Renata F.
author_facet Fonseca, Renata F.
de Carvalho, Flávia M.
Poletta, Fernando Adrián
Montaner, David
Dopazo, Joaquin
Mereb, Juan C.
Moreira, Miguel A. M.
Seuanez, Hector N.
Vieira, Alexandre R.
Castilla, Eduardo Enrique
Orioli, Iêda M.
author_role author
author2 de Carvalho, Flávia M.
Poletta, Fernando Adrián
Montaner, David
Dopazo, Joaquin
Mereb, Juan C.
Moreira, Miguel A. M.
Seuanez, Hector N.
Vieira, Alexandre R.
Castilla, Eduardo Enrique
Orioli, Iêda M.
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Cleft Lip/Palate
X Chromosome
Microarray
Dmd Gene
topic Cleft Lip/Palate
X Chromosome
Microarray
Dmd Gene
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X‐linked syndromes [midline 1 (MID1), oral‐facial‐digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X‐linked genes in the etiology of isolated CL±P in a South American population through a family‐based genome‐wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11‐kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P‐associated X‐chromosome genomic segments.
Fil: Fonseca, Renata F.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil
Fil: de Carvalho, Flávia M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
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. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Fil: Montaner, David. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; España
Fil: Dopazo, Joaquin. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; España
Fil: Mereb, Juan C.. Provincia de Río Negro. Ministerio de Salud. Hospital De Área El Bolsón; Argentina
Fil: Moreira, Miguel A. M.. National Cancer Institute; Brasil
Fil: Seuanez, Hector N.. National Cancer Institute; Brasil. Universidade Federal do Rio de Janeiro; Brasil
Fil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos
Fil: Castilla, Eduardo Enrique. 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. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Fil: Orioli, Iêda M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil
description The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X‐linked syndromes [midline 1 (MID1), oral‐facial‐digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X‐linked genes in the etiology of isolated CL±P in a South American population through a family‐based genome‐wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11‐kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P‐associated X‐chromosome genomic segments.
publishDate 2015
dc.date.none.fl_str_mv 2015-10
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/11336/42860
Fonseca, Renata F.; de Carvalho, Flávia M.; Poletta, Fernando Adrián; Montaner, David; Dopazo, Joaquin; et al.; Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate; Wiley Blackwell Publishing, Inc; European Journal Of Oral Sciences; 123; 5; 10-2015; 381-384
0909-8836
CONICET Digital
CONICET
url http://hdl.handle.net/11336/42860
identifier_str_mv Fonseca, Renata F.; de Carvalho, Flávia M.; Poletta, Fernando Adrián; Montaner, David; Dopazo, Joaquin; et al.; Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate; Wiley Blackwell Publishing, Inc; European Journal Of Oral Sciences; 123; 5; 10-2015; 381-384
0909-8836
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1111/eos.12212
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/eos.12212
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
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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score 13.13397

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