Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients

Autores
Gravina, Luis Pablo; Crespo, Carolina; Giugno, Hilda; Sen, Luisa; Chertkoff, Lilien Patricia; Mangano, Andrea María Mercedes; Castaños, Claudio
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background There is a considerable variation in the phenotype and course of the disease in cystic fibrosis (CF) even in patients with the same CFTR genotype, suggesting that other factors are important for prognosis. Mannose-binding lectin (MBL) has been proposed as one of these factors. We therefore investigated the influence of MBL2 gene variants on disease severity, age at acquisition of Pseudomonas aeruginosa, and survival in CF patients. Methods MBL2 variants were studied in 106 Argentinean pediatric CF patients carrying two severe CFTR mutations. Clinical phenotype was defined according to the Shwachman score and lung function tests. Age at infection with P. aeruginosa and age at death were also recorded. Results MBL insufficiency was associated with a 3.5-fold risk of having a severe phenotype (CI 95%: 1.2–10.3, p = 0.03). It was also associated with an earlier onset of infection with P. aeruginosa (p = 0.035). No statistically significant differences were found in FEV1 and survival. Conclusions MBL insufficiency was associated with detrimental progression of the disease. These results together with previous findings suggest that the effect of MBL2 expression may be a major determinant of the severity of the clinical phenotype in patients with CF.
Fil: Gravina, Luis Pablo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Crespo, Carolina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Giugno, Hilda. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Sen, Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Chertkoff, Lilien Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Mangano, Andrea María Mercedes. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Castaños, Claudio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Materia
Cystic Fibrosis
Mannose-Binding Lectin
Mbl2
Modifier Gene
Phenotype
Polymorphism
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:11336/35904
Acceder
id CONICETDig_d677064bfb8c931eec520c4459e9d857
oai_identifier_str oai:ri.conicet.gov.ar:11336/35904
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patientsGravina, Luis PabloCrespo, CarolinaGiugno, HildaSen, LuisaChertkoff, Lilien PatriciaMangano, Andrea María MercedesCastaños, ClaudioCystic FibrosisMannose-Binding LectinMbl2Modifier GenePhenotypePolymorphismhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background There is a considerable variation in the phenotype and course of the disease in cystic fibrosis (CF) even in patients with the same CFTR genotype, suggesting that other factors are important for prognosis. Mannose-binding lectin (MBL) has been proposed as one of these factors. We therefore investigated the influence of MBL2 gene variants on disease severity, age at acquisition of Pseudomonas aeruginosa, and survival in CF patients. Methods MBL2 variants were studied in 106 Argentinean pediatric CF patients carrying two severe CFTR mutations. Clinical phenotype was defined according to the Shwachman score and lung function tests. Age at infection with P. aeruginosa and age at death were also recorded. Results MBL insufficiency was associated with a 3.5-fold risk of having a severe phenotype (CI 95%: 1.2–10.3, p = 0.03). It was also associated with an earlier onset of infection with P. aeruginosa (p = 0.035). No statistically significant differences were found in FEV1 and survival. Conclusions MBL insufficiency was associated with detrimental progression of the disease. These results together with previous findings suggest that the effect of MBL2 expression may be a major determinant of the severity of the clinical phenotype in patients with CF.Fil: Gravina, Luis Pablo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Crespo, Carolina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Giugno, Hilda. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Sen, Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Chertkoff, Lilien Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Mangano, Andrea María Mercedes. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Castaños, Claudio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaElsevier Science2014-08info: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/11336/35904Gravina, Luis Pablo; Crespo, Carolina; Giugno, Hilda; Sen, Luisa; Chertkoff, Lilien Patricia; et al.; Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients; Elsevier Science; Journal Of Cystic Fibrosis; 14; 1; 8-2014; 78-831569-1993CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.jcf.2014.07.012info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1569199314001738info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:10:35Zoai:ri.conicet.gov.ar:11336/35904instacron: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 10:10:35.937CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
title Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
spellingShingle Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
Gravina, Luis Pablo
Cystic Fibrosis
Mannose-Binding Lectin
Mbl2
Modifier Gene
Phenotype
Polymorphism
title_short Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
title_full Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
title_fullStr Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
title_full_unstemmed Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
title_sort Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
dc.creator.none.fl_str_mv Gravina, Luis Pablo
Crespo, Carolina
Giugno, Hilda
Sen, Luisa
Chertkoff, Lilien Patricia
Mangano, Andrea María Mercedes
Castaños, Claudio
author Gravina, Luis Pablo
author_facet Gravina, Luis Pablo
Crespo, Carolina
Giugno, Hilda
Sen, Luisa
Chertkoff, Lilien Patricia
Mangano, Andrea María Mercedes
Castaños, Claudio
author_role author
author2 Crespo, Carolina
Giugno, Hilda
Sen, Luisa
Chertkoff, Lilien Patricia
Mangano, Andrea María Mercedes
Castaños, Claudio
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Cystic Fibrosis
Mannose-Binding Lectin
Mbl2
Modifier Gene
Phenotype
Polymorphism
topic Cystic Fibrosis
Mannose-Binding Lectin
Mbl2
Modifier Gene
Phenotype
Polymorphism
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 There is a considerable variation in the phenotype and course of the disease in cystic fibrosis (CF) even in patients with the same CFTR genotype, suggesting that other factors are important for prognosis. Mannose-binding lectin (MBL) has been proposed as one of these factors. We therefore investigated the influence of MBL2 gene variants on disease severity, age at acquisition of Pseudomonas aeruginosa, and survival in CF patients. Methods MBL2 variants were studied in 106 Argentinean pediatric CF patients carrying two severe CFTR mutations. Clinical phenotype was defined according to the Shwachman score and lung function tests. Age at infection with P. aeruginosa and age at death were also recorded. Results MBL insufficiency was associated with a 3.5-fold risk of having a severe phenotype (CI 95%: 1.2–10.3, p = 0.03). It was also associated with an earlier onset of infection with P. aeruginosa (p = 0.035). No statistically significant differences were found in FEV1 and survival. Conclusions MBL insufficiency was associated with detrimental progression of the disease. These results together with previous findings suggest that the effect of MBL2 expression may be a major determinant of the severity of the clinical phenotype in patients with CF.
Fil: Gravina, Luis Pablo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Crespo, Carolina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Giugno, Hilda. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Sen, Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Chertkoff, Lilien Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Mangano, Andrea María Mercedes. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Castaños, Claudio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
description Background There is a considerable variation in the phenotype and course of the disease in cystic fibrosis (CF) even in patients with the same CFTR genotype, suggesting that other factors are important for prognosis. Mannose-binding lectin (MBL) has been proposed as one of these factors. We therefore investigated the influence of MBL2 gene variants on disease severity, age at acquisition of Pseudomonas aeruginosa, and survival in CF patients. Methods MBL2 variants were studied in 106 Argentinean pediatric CF patients carrying two severe CFTR mutations. Clinical phenotype was defined according to the Shwachman score and lung function tests. Age at infection with P. aeruginosa and age at death were also recorded. Results MBL insufficiency was associated with a 3.5-fold risk of having a severe phenotype (CI 95%: 1.2–10.3, p = 0.03). It was also associated with an earlier onset of infection with P. aeruginosa (p = 0.035). No statistically significant differences were found in FEV1 and survival. Conclusions MBL insufficiency was associated with detrimental progression of the disease. These results together with previous findings suggest that the effect of MBL2 expression may be a major determinant of the severity of the clinical phenotype in patients with CF.
publishDate 2014
dc.date.none.fl_str_mv 2014-08
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/11336/35904
Gravina, Luis Pablo; Crespo, Carolina; Giugno, Hilda; Sen, Luisa; Chertkoff, Lilien Patricia; et al.; Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients; Elsevier Science; Journal Of Cystic Fibrosis; 14; 1; 8-2014; 78-83
1569-1993
CONICET Digital
CONICET
url http://hdl.handle.net/11336/35904
identifier_str_mv Gravina, Luis Pablo; Crespo, Carolina; Giugno, Hilda; Sen, Luisa; Chertkoff, Lilien Patricia; et al.; Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients; Elsevier Science; Journal Of Cystic Fibrosis; 14; 1; 8-2014; 78-83
1569-1993
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jcf.2014.07.012
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1569199314001738
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
dc.publisher.none.fl_str_mv Elsevier Science
publisher.none.fl_str_mv Elsevier Science
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 13.070432

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