RESUMEN
OBJECTIVES: Coeliac disease (CD) has one of the strongest class II HLA association of any human disease. The goal of this study was to establish the frequency of HLA-DR and DQ antigens, as well as common HLA-DR-DQ haplotypes among CD patients. No similar study has previously been done in Croatian patients. PATIENTS AND CONTROLS: There were 58 biopsy proven patients with CD. The control groups comprised 502 and 118 healthy person for HLA-DR and HLA-DQ typing, respectively. METHODS: The class II HLA-DR and DQ antigens typing were carried out by standard microcytotoxicity assay for B cells. Only antisera to three specificities (DQ1, 2 and 3) were available to us at the time of the study. RESULTS: We confirmed the high frequency of HLA-DR3 (84.48%; RR = 23.7; p < 0.00001) in our patients with CD. As reported in other populations, most of the patients negative for DR3, were heterozygous for DR7 and DR5 (10.34%) or DR4/DR5, DR4/DR6 (3.44%). CD was significantly correlated with the presence of HLA-DQ2 (96.55%, RR = 75.9; p < 0.00001). Correlation with CD was strongly dependent on homozygosity, 15 out of 58 (25.86%) of the patients and 4 (2.87%) of the controls being homozygotes for DQ2 (RR = 11.9; p < 0.00001). The remaining two patients were DR4-DQ3 positive. Among extended haplotypes only DR2-DQ1 was under-represented (RR = 0.3; p < 0.0033). CONCLUSION: The results suggest that in Croatia CD is primarily associated with HLA-DQ2 specificities on the DR3-DQ2 haplotype.
Asunto(s)
Enfermedad Celíaca/genética , Antígenos HLA-DQ/genética , Antígeno HLA-DR3/genética , Adolescente , Enfermedad Celíaca/inmunología , Niño , Preescolar , Croacia , Femenino , Haplotipos , Humanos , Lactante , MasculinoRESUMEN
In common with most autoimmune diseases, psoriasis is associated with some HLA antigens. We studied the distribution of HLA antigens in Croatian patients with psoriasis: 108 patients were divided into groups according to family history and age of disease onset. HLA antigens were analyzed serologically and HLA-C alleles were analyzed using polymerase chain reaction. We found significant increases in HLA-A2, -B17, -B37 and -B13 antigens and highly significant increases in HLA-Cw*0602 and DR7 antigens in psoriatic patients compared with controls. Patients with type I psoriasis (early onset, positive family history) showed highly significant associations with Cw*0602 [p < 0.00001; relative risk (RR) = 14.45] and DR7 (p < 0.00001; RR = 15.09) antigens. Patients with type II psoriasis (late onset, no family history) had a significant association with Cw*03 antigen (p = 0.008; RR = 0.17). In conclusion, HLA-B13, -B17, Cw*0602 and -DR7 antigens are associated with a significant risk of psoriasis in the Croatian population and the Cw*0602 allele has the strongest association, especially for type I psoriasis.
Asunto(s)
Antígenos HLA/sangre , Psoriasis/genética , Psoriasis/inmunología , Población Blanca/genética , Adulto , Croacia , Femenino , Antígenos HLA/clasificación , Humanos , Masculino , Reacción en Cadena de la PolimerasaRESUMEN
Several studies of HLA and gluten enteropathy (GE) in European countries have found an association between this disease and certain DR phenotypes. However, no studies of DR phenotypes have been published in GE coming from Croatia. Therefore, we have studied HLA-A, B and DR specificities in 94 unrelated children with GE and in a group of healthy controls. In GE there was significant increase in the frequencies of A1 (61.70% v 24.50%; p < 0.0001) and B8 antigen (70.21% v 20.51%; p < 0.0001) compared with controls. The most frequent DR antigen was HLA-DR3 (87.23% v 18.82% in controls) with the relative risk of 29.65. The distribution of DR phenotypes in GE showed that the most frequent one was DR3/other DR (54.26%) and in decreasing order DR3/DR7 (17.02%), DR3/X (15.96%) and DR5/DR7 (8.51%). These phenotypes account for 95.75% of patients studied. A further 3.19% have DR4/DR5 phenotype. However, due to the frequency of certain antigen in controls, only phenotypes DR3/DR7 (relative risk: 28.92), DR3/X (relative risk: 13.29) and DR3/ other DR (relative risk: 10.04) were significantly associated with GE. The present study emphasizes the importance of studying the HLA-DR phenotypes in patients with GE.