Título:
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Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease
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Autor/a:
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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-Celia; 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
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Abstract:
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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. |
Materia(s):
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-Behçet's disease -HLA -KIR -NK cells -Functional polymorphisms |
Derechos:
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open access
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Tipo de documento:
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Article |
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Uri:
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https://ddd.uab.cat/record/223419
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