engleski

HLA Class II Risk allelles in Croatian patients with pemphigus

Pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are autoimmune blistering diseases caused by autoantibodies against keratinocyte adhesion molecules desmoglein 3 and 1 in PV patients and against desmoglein 1 only in PF patients. It is widely accepted that PV and PF are HLA associated diseases. The aim of the study was to identify the risk HLA class II alleles and haplotypes in patients with PV and PF in Croatia. During last 24 months a study of HLA genotyping in 16 patients with PV and 3 patients with PF was performed and results were compared with control group of 190 unrelated healthy blood donors at Croatian institute of transfusion medicine. HLA typing was performed using high resolution PCR-SSP method (Olerup-SSP, Saltsjöbaden, Sweden). Allele frequencies and probable haplotype associations were estimated by ARLEQIN v. 2000. In our results we observed high frequency of DRB1*0402 (AF 0.343) , DQB1*0302 (AF 0.343) and DQA1*030101 (AF 0.343). Frequency of these alleles is significanty higher than in control group (AF 0.018 ; 0.061 ; 0.061 respectively). Frequency of associated haplotype DRB1*0402-DQA1*030101- DQB1*0302 is 0.343 vs. 0.020 in control group. HLA genotyping was perfomed in only 3 PF patients as PF is much less frequent compared with PV. This number is not sufficient for statistical analysis, but in available results it is remarkable that HLA genotypes are completely different fom those in PV patients. Our results are in concordance with data available in the literature and are additional support to the hypothesis of association of HLA-DRB1*0402 in Caucasian PV patients.

HLA class II risk alleles; pemphigus vulgaris and folliaceus

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