Genetic factors, particularly those concerning HLA class II, have been associated with the pathogenesis of pemphigus. Taking advantage of an area where pemphigus foliaceus (PF) and pemphigus vulgaris (PV) are prevalent in the northeastern region of the state of São Paulo, Southeastern Brazil, we have studied the HLA class I (A, B and C) and class II (DRB1 and DQA1/DQB1) profiles in 86 and 83 patients with PF and PV, respectively, as compared with 1592 controls from the same region. Among all the HLA alleles described herein, the more prevalent susceptibility alleles for PF were HLA-A*11, 33, -B*14; -DRB1*01:01, *01:02; -DQA1*01:02; and -DQB1*05:01. In PV patients, the HLA-B*38; -C*12; -DRB1*04:02, *08:04, *14:01, *14:04; -DQA1*03:01; and -DQB1*03:02 and *05:03 alleles were associated with susceptibility. The HLA-DRB1*01:02 allele and the HLA-DRB1*01-DQA1*01-DQB1*05 haplotype in PF patients and the HLA-DRB1*04:02 and *14:01 alleles and the HLA-DRB1*14-DQA1*01-DQB1*05 haplotype in PV patients were related with the highest etiologic fraction values. Distinct genetic patterns and not yet described HLA susceptibility/protection alleles/haplotypes profiles have been observed in this series. Our findings corroborate the differential genetic markers in PF and PV in an area where pemphigus is prevalent but not yet reported.
Keywords: HLA class I; HLA class II; Haplotypes; Pemphigus; Pemphigus foliaceus; Pemphigus vulgaris.
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