Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/12964
Association of Functional Polymorphisms of KIR3DL1/DS1 With Behcet's Disease
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AuthorCastano-Nunez, Angel; Montes-Cano, Marco-Antonio; Garcia-Lozano, Jose-Raul; Ortego-Centeno, Norberto; Garcia-Hernandez, Francisco-Jose; Espinosa, Gerard; Grana-Gil, Genaro; Sanchez-Burson, Juan; Julia, Maria-Rosa; Solans, Roser; Blanco, Ricardo; Barnosi-Marin, Ana-Celia; Gomez de la Torre, Ricardo; Fanlo, Patricia; Rodriguez-Carballeira, Monica; Rodriguez-Rodriguez, Luis; Camps, Teresa; Castaneda, Santos; Alegre-Sancho, Juan-Jose; Martin, Javier; Gonzalez-Escribano, Maria-Francisca
Document typeresearch article
CitationCastano-Nunez A, Montes-Cano MA, Garcia-Lozano JR, Ortego-Centeno N, Garcia-Hernandez FJ, Espinosa G, et al. Association of Functional Polymorphisms of KIR3DL1/DS1 With Behcet's Disease. Front Immunol. 2019 Nov 29;10:2755.
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.
MeSHGenetic Predisposition to Disease
Genetic Association Studies
Predisposición Genética a la Enfermedad
Frecuencia de los Genes
Estudios de Asociación Genética
Síndrome de Behçet
This item appears in following Docusalut collectionsHospital Universitario Son Espases - HUSE > Comunicación científica
Instituto de Investigación Sanitaria Islas Baleares - IDISBA > Comunicación científica