RT Journal Article
T1 Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease.
A1 Castaño-Nuñez, Angel
A1 Montes-Cano, Marco-Antonio
A1 Garcia-Lozano, Jose-Raul
A1 Ortego-Centeno, Norberto
A1 Garcia-Hernandez, Francisco-Jose
A1 Espinosa, Gerard
A1 Graña-Gil, Genaro
A1 Sanchez-Burson, Juan
A1 Julia, Maria-Rosa
A1 Solans, Roser
A1 Blanco, Ricardo
A1 Barnosi-Marin, Ana-Celia
A1 Gomez-de-la-Torre, Ricardo
A1 Fanlo, Patricia
A1 Rodriguez-Carballeira, Monica
A1 Rodriguez-Rodriguez, Luis
A1 Camps, Teresa
A1 Castañeda, Santos
A1 Alegre-Sancho, Juan-Jose
A1 Martin, Javier
A1 Gonzalez-Escribano, Maria-Francisca
K1 Behçet's disease
K1 HLA
K1 KIR
K1 NK cells
K1 Functional polymorphisms
K1 Área de Gestión Sanitaria Sur de Sevilla
AB 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 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.
PB Frontiers Research Foundation
YR 2019
FD 2019-11-29
LK http://hdl.handle.net/10668/14846
UL http://hdl.handle.net/10668/14846
LA en
NO Castaño-Núñez Á, Montes-Cano MA, García-Lozano JR, Ortego-Centeno N, García-Hernández FJ, Espinosa G, et al. Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease. Front Immunol. 2019 Nov 29;10:2755
NO This work wassupported by FondodeInvestigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118 and 16/01373), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197).
DS RISalud
RD Apr 14, 2025