Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.

Castaño, Ángel; Montes-Cano, Marco-Antonio; García-Lozano, José Raúl; Ortego-Centeno, Norberto; García-Hernández, Francisco José; Espinosa, Gerard; Graña-Gil, Genaro; Sánchez-Bursón, J; Julià, María Rosa; Solans, Roser; Blanco, Ricardo; Barnosi-Marín, Ana C.; Gómez de la Torre, Ricardo; Fanlo, P.; Rodríguez-Carballeira, M.; Rodríguez-Rodríguez, L.; Camps, Teresa; Castañeda, Santos; Alegre-Sancho, Juan-José; Martín, J.; González-Escribano, María Francisca

Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.

Behçet's disease (BD) is an immune-mediated vasculitis related to imbalances between the innate and adaptive immune response. Infectious agents or environmental factors may trigger the disease in genetically predisposed individuals. HLA-B51 is the genetic factor stronger associated with the dis...

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Autores:	Castaño, Ángel, Montes-Cano, Marco-Antonio, García-Lozano, José Raúl, Ortego-Centeno, Norberto, García-Hernández, Francisco José, Espinosa, Gerard, Graña-Gil, Genaro, Sánchez-Bursón, J, Julià, María Rosa, Solans, Roser, Blanco, Ricardo, Barnosi-Marín, Ana C., Gómez de la Torre, Ricardo, Fanlo, P., Rodríguez-Carballeira, M., Rodríguez-Rodríguez, L., Camps, Teresa, Castañeda, Santos, Alegre-Sancho, Juan-José, Martín, J., González-Escribano, María Francisca
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2019
País:	España
Institución:	Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:	DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:	oai:digital.csic.es:10261/212389
Acceso en línea:	http://hdl.handle.net/10261/212389
Access Level:	acceso abierto
Palabra clave:	Behçet's disease HLA KIR NK cells Functional polymorphisms

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spelling	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.Castaño, ÁngelMontes-Cano, Marco-AntonioGarcía-Lozano, José RaúlOrtego-Centeno, NorbertoGarcía-Hernández, Francisco JoséEspinosa, GerardGraña-Gil, GenaroSánchez-Bursón, JJulià, María RosaSolans, RoserBlanco, RicardoBarnosi-Marín, Ana C.Gómez de la Torre, RicardoFanlo, P.Rodríguez-Carballeira, M.Rodríguez-Rodríguez, L.Camps, TeresaCastañeda, SantosAlegre-Sancho, Juan-JoséMartín, J.González-Escribano, María FranciscaBehçet's diseaseHLAKIRNK cellsFunctional polymorphismsBehçet's disease (BD) is an immune-mediated vasculitis related to imbalances between the innate and adaptive immune response. Infectious agents or environmental factors may trigger the disease in genetically predisposed individuals. HLA-B51 is the genetic factor stronger associated with the disease, although the bases of this association remain elusive. NK cells have also been implicated in the etiopathogenesis of BD. A family of NK receptors, Killer-cell Immunoglobulin-like Receptor (KIR), with a very complex organization, is very important in the education and control of the NK cells by the union to their ligands, most of them, HLA class I molecules. This study aimed to investigate the contribution of certain KIR functional polymorphisms to the susceptibility to BD. A total of 466 BD patients and 444 healthy individuals were genotyped in HLA class I (A, B, and C). The set of KIR genes and the functional variants of KIR3DL1/DS1 and KIR2DS4 were also determined. Frequency of KIR3DL1004 was lower in patients than in controls (0.15 vs. 0.20, P = 0.005, Pc = 0.015; OR = 0.70; 95% CI 0.54–0.90) in both B51 positive and negative individuals. KIR3DL1004, which encodes a misfolded protein, is included in a common telomeric haplotype with only one functional KIR gene, KIR3DL2. Both, KIR3DL1 and KIR3DL2 sense pathogen-associated molecular patterns but they have different capacities to eliminate them. The education of the NK cells depending on the HLA, the balance of KIR3DL1/KIR3DL2 licensed NK cells and the different capacities of these receptors to eliminate pathogens could be involved in the etiopathogenesis of BD.This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118 and 16/01373), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197)Frontiers MediaInstituto de Salud Carlos IIIEuropean CommissionJunta de AndalucíaConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2020202020192020info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/212389reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.3389/fimmu.2019.02755Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2123892026-05-22T06:33:51Z
dc.title.none.fl_str_mv	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
title	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
spellingShingle	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease. Castaño, Ángel Behçet's disease HLA KIR NK cells Functional polymorphisms
title_short	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
title_full	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
title_fullStr	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
title_full_unstemmed	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
title_sort	Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
dc.creator.none.fl_str_mv	Castaño, Ángel Montes-Cano, Marco-Antonio García-Lozano, José Raúl Ortego-Centeno, Norberto García-Hernández, Francisco José Espinosa, Gerard Graña-Gil, Genaro Sánchez-Bursón, J Julià, María Rosa Solans, Roser Blanco, Ricardo Barnosi-Marín, Ana C. Gómez de la Torre, Ricardo Fanlo, P. Rodríguez-Carballeira, M. Rodríguez-Rodríguez, L. Camps, Teresa Castañeda, Santos Alegre-Sancho, Juan-José Martín, J. González-Escribano, María Francisca
author	Castaño, Ángel
author_facet	Castaño, Ángel Montes-Cano, Marco-Antonio García-Lozano, José Raúl Ortego-Centeno, Norberto García-Hernández, Francisco José Espinosa, Gerard Graña-Gil, Genaro Sánchez-Bursón, J Julià, María Rosa Solans, Roser Blanco, Ricardo Barnosi-Marín, Ana C. Gómez de la Torre, Ricardo Fanlo, P. Rodríguez-Carballeira, M. Rodríguez-Rodríguez, L. Camps, Teresa Castañeda, Santos Alegre-Sancho, Juan-José Martín, J. González-Escribano, María Francisca
author_role	author
author2	Montes-Cano, Marco-Antonio García-Lozano, José Raúl Ortego-Centeno, Norberto García-Hernández, Francisco José Espinosa, Gerard Graña-Gil, Genaro Sánchez-Bursón, J Julià, María Rosa Solans, Roser Blanco, Ricardo Barnosi-Marín, Ana C. Gómez de la Torre, Ricardo Fanlo, P. Rodríguez-Carballeira, M. Rodríguez-Rodríguez, L. Camps, Teresa Castañeda, Santos Alegre-Sancho, Juan-José Martín, J. González-Escribano, María Francisca
author2_role	author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Instituto de Salud Carlos III European Commission Junta de Andalucía Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv	Behçet's disease HLA KIR NK cells Functional polymorphisms
topic	Behçet's disease HLA KIR NK cells Functional polymorphisms
description	Behçet's disease (BD) is an immune-mediated vasculitis related to imbalances between the innate and adaptive immune response. Infectious agents or environmental factors may trigger the disease in genetically predisposed individuals. HLA-B51 is the genetic factor stronger associated with the disease, although the bases of this association remain elusive. NK cells have also been implicated in the etiopathogenesis of BD. A family of NK receptors, Killer-cell Immunoglobulin-like Receptor (KIR), with a very complex organization, is very important in the education and control of the NK cells by the union to their ligands, most of them, HLA class I molecules. This study aimed to investigate the contribution of certain KIR functional polymorphisms to the susceptibility to BD. A total of 466 BD patients and 444 healthy individuals were genotyped in HLA class I (A, B, and C). The set of KIR genes and the functional variants of KIR3DL1/DS1 and KIR2DS4 were also determined. Frequency of KIR3DL1004 was lower in patients than in controls (0.15 vs. 0.20, P = 0.005, Pc = 0.015; OR = 0.70; 95% CI 0.54–0.90) in both B51 positive and negative individuals. KIR3DL1004, which encodes a misfolded protein, is included in a common telomeric haplotype with only one functional KIR gene, KIR3DL2. Both, KIR3DL1 and KIR3DL2 sense pathogen-associated molecular patterns but they have different capacities to eliminate them. The education of the NK cells depending on the HLA, the balance of KIR3DL1/KIR3DL2 licensed NK cells and the different capacities of these receptors to eliminate pathogens could be involved in the etiopathogenesis of BD.
publishDate	2019
dc.date.none.fl_str_mv	2019 2020 2020 2020
dc.type.none.fl_str_mv	info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 Publisher's version info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/10261/212389
url	http://hdl.handle.net/10261/212389
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	http://dx.doi.org/10.3389/fimmu.2019.02755 Sí
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.publisher.none.fl_str_mv	Frontiers Media
publisher.none.fl_str_mv	Frontiers Media
dc.source.none.fl_str_mv	reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str	Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str	DIGITAL.CSIC. Repositorio Institucional del CSIC
collection	DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score	15.811543

Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.

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