Castano-Nunez, AngelMontes-Cano, Marco-AntonioGarcia-Lozano, Jose-RaulOrtego-Centeno, NorbertoGarcia-Hernandez, Francisco-JoseEspinosa, GerardGrana-Gil, GenaroSanchez-Burson, JuanJulia Benique, Maria RosaSolans, RoserBlanco, RicardoBarnosi-Marin, Ana-CeliaGomez de la Torre, RicardoFanlo Mateo, PatriciaRodriguez-Carballeira, MonicaRodriguez-Rodriguez, LuisCamps, TeresaCastaneda, SantosAlegre-Sancho, Juan-JoseMartin, JavierGonzalez-Escribano, Maria-Francisca2024-09-102024-09-102019-11-29Castano-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;10:2755.1664-3224http://hdl.handle.net/20.500.13003/12964https://hdl.handle.net/20.500.12105/22720Behcet'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.enghttp://creativecommons.org/licenses/by/4.0/Behcet's diseaseHLAKIRNK cellsFunctional polymorphismsGenetic Predisposition to DiseaseGenotypeBehcet SyndromeAllelesGene FrequencyHumansHLA AntigensMaleFemaleReceptors, KIR3DL1Receptors, KIROdds RatioGenetic Association StudiesPolymorphism, Geneticresearch articleAttribution 4.0 International3184995210275510.3389/fimmu.2019.02755Frontiers in Immunologyopen accessOportunidad RelativaPredisposición Genética a la EnfermedadAntígenos HLAFemeninoMasculinoAlelosHumanosFrecuencia de los GenesEstudios de Asociación GenéticaGenotipoReceptores KIRSíndrome de BehçetPolimorfismo GenéticoReceptores KIR3DL12-s2.0-85076837491502780300001L630179342