engleski

Analysis of HLA class II risk alleles in Croatian patients with pemphigus

Introduction: 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 pemphigus vulgaris and pemphigus foliacues are HLA associated diseases. Methods: 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. Results: 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 pemphigus foliaceus patients as this diseases is much less frequent compared with pemphigus vulgaris. This number is not sufficient for statistical analysis, but in available results it is remarkable that HLA genotypes are completely different in PF patients compared with PV patients. Conclusions: 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.

Pemphigus vulgaris; pemphigus foliaceus; autoimmune blistering diseases; autoantibodies; HLA

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