Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease
Castaño-Núñez, Ángel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Montes-Cano, Marco-Antonio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
García-Lozano, José-Raúl (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Ortego-Centeno, Norberto (Hospital Clínico San Cecilio)
García-Hernández, Francisco-José (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona)
Graña-Gil, Genaro. (Complejo Hospitalario Universitario de A Coruña)
Sánchez-Bursón, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia))
Juliá, María Rosa (Hospital Universitari Son Espases (Palma de Mallorca, Balears))
Solans, Roser (Hospital Universitari Vall d'Hebron)
Blanco, Ricardo (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Barnosi-Marín, Ana-Celia (Complejo Hospitalario Torrecárdenas (Almeria))
Gómez de la Torre, Ricardo (Hospital Universitario Central de Asturias)
Fanlo, Patricia (Hospital Virgen del Camino (Pamplona))
Rodríguez-Carballeira, Mónica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Rodriguez-Rodriguez, Luis (Hospital Clínico San Carlos (Madrid))
Camps i Miró, Teresa (Hospital Regional Universitario de Málaga)
Castañeda, Santos (Hospital Universitario de la Princesa (Madrid))
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset (València))
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra")
González-Escribano, María Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Universitat Autònoma de Barcelona

Data:	2019
Resum:	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.
Ajuts:	Instituto de Salud Carlos III 16/01373 Instituto de Salud Carlos III 13/01118
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Behçet's disease ; HLA ; KIR ; NK cells ; Functional polymorphisms
Publicat a:	Frontiers in immunology, Vol. 10 (29 2019) , p. 2755, ISSN 1664-3224

DOI: 10.3389/fimmu.2019.02755
PMID: 31849952

7 p, 195.0 KB

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