Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçets Disease

Autor: Castaño-Núñez, Ángel, Montes-Cano, Marco Antonio, García-Lozano, José-Raúl, Ortego-Centeno, Norberto, García-Hernández, Francisco-José, Espinosa, Gerard, Graña-Gil, Genaro., Sánchez-Bursón, Juan, Juliá, María Rosa, Solans, Roser, Blanco, Ricardo, Barnosi-Marín, Ana Cecilia, Gómez de la Torre, Ricardo, Fanlo, Patricia, Rodríguez-Carballeira, Mónica, Rodriguez-Rodriguez, Luis, Camps i Miró, Teresa, Castañeda, Santos, Alegre-Sancho, Juan José, Martín, Javier, González-Escribano, María Francisca, Universidad Autònoma de Barcelona
Přispěvatelé: Instituto de Salud Carlos III, European Commission, Junta de Andalucía
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Frontiers in Immunology, Vol 10 (2019)
Frontiers in Immunology
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Digital.CSIC. Repositorio Institucional del CSIC
instname
r-FISABIO. Repositorio Institucional de Producción Científica
ISSN: 1664-3224
DOI: 10.3389/fimmu.2019.02755
Popis: Behcet'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 KIR3DL1*004 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. KIR3DL1*004, 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 Investigacion (CTS-0197).
Databáze: OpenAIRE
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