RESUMEN
HLA class I molecules play a role both in viral infection control and in autoimmune diseases development. rs9264942T>C polymorphism in HLA-C gene was found to impact on HLA-C surface expression level and to be associated with HIV-1 control. It was found that these HLA alleles which protect against AIDS are associated with autoimmune disease e.g. psoriasis vulgaris (PsV). Whether rs9264942 SNP is associated with PsV was investigated here. rs9264942T>C was genotyped in 292 PsV patients, and 254 controls using TaqMan Genotyping Assay. PsV patients differed from controls in frequencies of rs9264942T>C alleles (p=3.62 × 10(-16)) and genotypes (5.67 × 10(-15)). However, rs9264942C allele was predisposing to PsV 3-fold weaker than HLA-Cw(∗)06 (OR=5.04 vs. OR=15.61, respectively). In addition, this SNP was described earlier to be in strong linkage disequilibrium (LD) with another SNP, rs67384697 ins/del, which by affecting a microRNA binding is responsible for regulating HLA-C expression. However, typing for is cheaper and simpler than that for rs67384697, therefore we think it may substitute for it to some extent.
Asunto(s)
Regiones no Traducidas 5' , Predisposición Genética a la Enfermedad , Antígenos HLA-C/genética , Polimorfismo de Nucleótido Simple , Psoriasis/genética , Adolescente , Adulto , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Frecuencia de los Genes , Sitios Genéticos , Antígenos HLA-C/inmunología , Haplotipos , Humanos , Lactante , Recién Nacido , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Psoriasis/inmunología , Psoriasis/patologíaRESUMEN
Atopic dermatitis (AD) is a common skin disease of complex etiology including affected humoral and cellular immune responses. The role of NK cells in development of this disease has been recently postulated, but is still poorly documented. The current study was undertaken to determine the impact of genes for the most polymorphic NK cell receptors, known as killer cell immunoglobulin-like receptors (KIRs), on the development of AD. We compared 240 patients suffering from AD with 570 healthy controls. Frequencies of the great majority of KIR genes did not differ between patients and controls, except for KIR2DS1, whose frequency was significantly (OR=0.629, CI95% (0.45; 0.87), pcorr=0.0454) lower in patients than in controls. These results were confirmed in a second cohort of 201 patients. When both patient groups were combined and compared to the control group, the result for KIR2DS1 achieved even higher significance (OR=0.658, CI95% (0.5; 0.86), pcorr=0.0158). To the best of our knowledge, this is the first report on KIR gene contribution to AD, and to allergy in general.