Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection

Autores
Juiz, Natalia Anahí; Cayo, Nelly M.; Burgos, Marianela; Salvo, Miriam E.; Nasser, Julio Rubén; Bua, Jacqueline Elena; Longhi, Silvia Andrea; Schijman, Alejandro Gabriel
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background. It is currently unclear why only a proportion of children born to Trypanosoma cruzi?infected mothers acquire the infection. We have examined the association of 11 single-nucleotide polymorphisms (SNPs) located in genes coding for placental expression enzymes as genetic markers of susceptibility to congenital T. cruzi infection (hereafter, ?congenital infection?): rs2014683and rs1048988 in ALPP; rs11244787 and rs1871054 in ADAM12; rs243866, rs243865, rs17859821, rs243864, and rs2285053 in MMP2; and rs3918242 and rs2234681 in MMP9.Methods. Two groups of children born to mothers seropositive for T. cruzi were compared: 101 had congenital infection, and 116 were uninfected. Novel high-resolution melting and capillary electrophoresis genotyping techniques were designed and used.Results. Logistic regression analysis showed that mutations in rs11244787 and rs1871054 (in ADAM12) and rs243866, rs17859821, and rs2285053 (in MMP2) were associated with susceptibility to congenital infection. Multifactor dimensionality reduction revealed that genotyping results for rs11244787, rs1871054, rs243866, rs17859821 and rs243864 sites would be a good predictorof congenital infection.Conclusions. Our results suggest an important role of human polymorphisms in proteins involved in extracellular matrix remodeling and the immune response during congenital infection. To our knowledge, this is the first study demonstrating the association between mutations in placentally expressed genes and susceptibility to congenital infection.
Fil: Juiz, Natalia Anahí. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
Fil: Cayo, Nelly M.. Universidad Nacional de Jujuy. Instituto de Biología de la Altura; Argentina
Fil: Burgos, Marianela. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Salvo, Miriam E.. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Nasser, Julio Rubén. Universidad Nacional de Salta; Argentina
Fil: Bua, Jacqueline Elena. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”. Instituto Nacional de Parasitología ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Longhi, Silvia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
Fil: Schijman, Alejandro Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
Materia
Congenital Chagas
Polymorphims
Snp
Metalloproteinases
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:11336/44183
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/44183
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi InfectionJuiz, Natalia AnahíCayo, Nelly M.Burgos, MarianelaSalvo, Miriam E.Nasser, Julio RubénBua, Jacqueline ElenaLonghi, Silvia AndreaSchijman, Alejandro GabrielCongenital ChagasPolymorphimsSnpMetalloproteinaseshttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background. It is currently unclear why only a proportion of children born to Trypanosoma cruzi?infected mothers acquire the infection. We have examined the association of 11 single-nucleotide polymorphisms (SNPs) located in genes coding for placental expression enzymes as genetic markers of susceptibility to congenital T. cruzi infection (hereafter, ?congenital infection?): rs2014683and rs1048988 in ALPP; rs11244787 and rs1871054 in ADAM12; rs243866, rs243865, rs17859821, rs243864, and rs2285053 in MMP2; and rs3918242 and rs2234681 in MMP9.Methods. Two groups of children born to mothers seropositive for T. cruzi were compared: 101 had congenital infection, and 116 were uninfected. Novel high-resolution melting and capillary electrophoresis genotyping techniques were designed and used.Results. Logistic regression analysis showed that mutations in rs11244787 and rs1871054 (in ADAM12) and rs243866, rs17859821, and rs2285053 (in MMP2) were associated with susceptibility to congenital infection. Multifactor dimensionality reduction revealed that genotyping results for rs11244787, rs1871054, rs243866, rs17859821 and rs243864 sites would be a good predictorof congenital infection.Conclusions. Our results suggest an important role of human polymorphisms in proteins involved in extracellular matrix remodeling and the immune response during congenital infection. To our knowledge, this is the first study demonstrating the association between mutations in placentally expressed genes and susceptibility to congenital infection.Fil: Juiz, Natalia Anahí. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; ArgentinaFil: Cayo, Nelly M.. Universidad Nacional de Jujuy. Instituto de Biología de la Altura; ArgentinaFil: Burgos, Marianela. Hospital Nacional Prof. Alejandro Posadas; ArgentinaFil: Salvo, Miriam E.. Hospital Nacional Prof. Alejandro Posadas; ArgentinaFil: Nasser, Julio Rubén. Universidad Nacional de Salta; ArgentinaFil: Bua, Jacqueline Elena. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”. Instituto Nacional de Parasitología ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Longhi, Silvia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; ArgentinaFil: Schijman, Alejandro Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; ArgentinaUniversity of Chicago Press2016-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/44183Juiz, Natalia Anahí; Cayo, Nelly M.; Burgos, Marianela; Salvo, Miriam E.; Nasser, Julio Rubén; et al.; Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection; University of Chicago Press; Journal Of Infectious Diseases; 213; 8; 4-2016; 1299-13060022-1899CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1093/infdis/jiv561info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jid/article/213/8/1299/2459296info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-17T10:50:40Zoai:ri.conicet.gov.ar:11336/44183instacron: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:34982025-09-17 10:50:40.396CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
title Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
spellingShingle Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
Juiz, Natalia Anahí
Congenital Chagas
Polymorphims
Snp
Metalloproteinases
title_short Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
title_full Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
title_fullStr Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
title_full_unstemmed Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
title_sort Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection
dc.creator.none.fl_str_mv Juiz, Natalia Anahí
Cayo, Nelly M.
Burgos, Marianela
Salvo, Miriam E.
Nasser, Julio Rubén
Bua, Jacqueline Elena
Longhi, Silvia Andrea
Schijman, Alejandro Gabriel
author Juiz, Natalia Anahí
author_facet Juiz, Natalia Anahí
Cayo, Nelly M.
Burgos, Marianela
Salvo, Miriam E.
Nasser, Julio Rubén
Bua, Jacqueline Elena
Longhi, Silvia Andrea
Schijman, Alejandro Gabriel
author_role author
author2 Cayo, Nelly M.
Burgos, Marianela
Salvo, Miriam E.
Nasser, Julio Rubén
Bua, Jacqueline Elena
Longhi, Silvia Andrea
Schijman, Alejandro Gabriel
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Congenital Chagas
Polymorphims
Snp
Metalloproteinases
topic Congenital Chagas
Polymorphims
Snp
Metalloproteinases
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background. It is currently unclear why only a proportion of children born to Trypanosoma cruzi?infected mothers acquire the infection. We have examined the association of 11 single-nucleotide polymorphisms (SNPs) located in genes coding for placental expression enzymes as genetic markers of susceptibility to congenital T. cruzi infection (hereafter, ?congenital infection?): rs2014683and rs1048988 in ALPP; rs11244787 and rs1871054 in ADAM12; rs243866, rs243865, rs17859821, rs243864, and rs2285053 in MMP2; and rs3918242 and rs2234681 in MMP9.Methods. Two groups of children born to mothers seropositive for T. cruzi were compared: 101 had congenital infection, and 116 were uninfected. Novel high-resolution melting and capillary electrophoresis genotyping techniques were designed and used.Results. Logistic regression analysis showed that mutations in rs11244787 and rs1871054 (in ADAM12) and rs243866, rs17859821, and rs2285053 (in MMP2) were associated with susceptibility to congenital infection. Multifactor dimensionality reduction revealed that genotyping results for rs11244787, rs1871054, rs243866, rs17859821 and rs243864 sites would be a good predictorof congenital infection.Conclusions. Our results suggest an important role of human polymorphisms in proteins involved in extracellular matrix remodeling and the immune response during congenital infection. To our knowledge, this is the first study demonstrating the association between mutations in placentally expressed genes and susceptibility to congenital infection.
Fil: Juiz, Natalia Anahí. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
Fil: Cayo, Nelly M.. Universidad Nacional de Jujuy. Instituto de Biología de la Altura; Argentina
Fil: Burgos, Marianela. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Salvo, Miriam E.. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Nasser, Julio Rubén. Universidad Nacional de Salta; Argentina
Fil: Bua, Jacqueline Elena. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”. Instituto Nacional de Parasitología ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Longhi, Silvia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
Fil: Schijman, Alejandro Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
description Background. It is currently unclear why only a proportion of children born to Trypanosoma cruzi?infected mothers acquire the infection. We have examined the association of 11 single-nucleotide polymorphisms (SNPs) located in genes coding for placental expression enzymes as genetic markers of susceptibility to congenital T. cruzi infection (hereafter, ?congenital infection?): rs2014683and rs1048988 in ALPP; rs11244787 and rs1871054 in ADAM12; rs243866, rs243865, rs17859821, rs243864, and rs2285053 in MMP2; and rs3918242 and rs2234681 in MMP9.Methods. Two groups of children born to mothers seropositive for T. cruzi were compared: 101 had congenital infection, and 116 were uninfected. Novel high-resolution melting and capillary electrophoresis genotyping techniques were designed and used.Results. Logistic regression analysis showed that mutations in rs11244787 and rs1871054 (in ADAM12) and rs243866, rs17859821, and rs2285053 (in MMP2) were associated with susceptibility to congenital infection. Multifactor dimensionality reduction revealed that genotyping results for rs11244787, rs1871054, rs243866, rs17859821 and rs243864 sites would be a good predictorof congenital infection.Conclusions. Our results suggest an important role of human polymorphisms in proteins involved in extracellular matrix remodeling and the immune response during congenital infection. To our knowledge, this is the first study demonstrating the association between mutations in placentally expressed genes and susceptibility to congenital infection.
publishDate 2016
dc.date.none.fl_str_mv 2016-04
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/11336/44183
Juiz, Natalia Anahí; Cayo, Nelly M.; Burgos, Marianela; Salvo, Miriam E.; Nasser, Julio Rubén; et al.; Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection; University of Chicago Press; Journal Of Infectious Diseases; 213; 8; 4-2016; 1299-1306
0022-1899
CONICET Digital
CONICET
url http://hdl.handle.net/11336/44183
identifier_str_mv Juiz, Natalia Anahí; Cayo, Nelly M.; Burgos, Marianela; Salvo, Miriam E.; Nasser, Julio Rubén; et al.; Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection; University of Chicago Press; Journal Of Infectious Diseases; 213; 8; 4-2016; 1299-1306
0022-1899
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1093/infdis/jiv561
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jid/article/213/8/1299/2459296
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
application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv University of Chicago Press
publisher.none.fl_str_mv University of Chicago Press
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 13.001348

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