Genetic markers for susceptibility to endemic Brazilian pemphigus foliaceus (Fogo Selvagem) in Xavante indians

Dissecting the associations of endemic Pemphigus Foliaceus (Fogo Selvagem) with HLA-DRB1 alleles and genotypes

“…Moraes et al 5 concluded that, as previously suggested by Cerna et al, 4 EPF is associated to a motif of variant amino-acid residues at positions 67-74 of the HLA-DRb polypeptide, LLEQRRAA, shared by the products of SU alleles known until that time. Also in our cohort, LLEQRRAA is positively associated with EPF.…”

“…4,5 To test the hypothesis that the products of different SU and/or PR alleles share a certain protein motif, we performed an association analysis of EPF with polymorphic amino-acid residues and their combinations. No particular motif was found to characterize these allele groups.…”

“…Positive and negative associations with several HLA-DR and HLA-DQ antigens and HLA-DRB1 and HLA-DQB1 alleles have been reported in white, admixed and Amerindian Brazilian populations. [2][3][4][5] Only two studies of non-Amerindian populations were performed (with 48 2 and 38 3 patients). The aim of the present study was to evaluate the associations between EPF and HLA-DRB1 alleles and genotypes in a large cohort of cases and controls, and to examine the allelic interactions, that is, the effect of susceptible (SU), protective (PR) and neutral (NE) alleles in different genotypic combinations.…”

Pemphigus is not associated with allotypic markers of immunoglobulin kappa

“…[6][7][8] In Folgo Selvagem, a significant association was found with four HLA class II alleles (DRB1*0102, DRB1*0404, DRB1402 and DRB1*1406) which share a common epitope on the variable region of the ␤ chain. 9 However, as in most autoimmune disorders, other loci may contribute to the occurrence of the disease. 12,13 For example, the gene encoding the constant region of immunoglobulin kappa light chain (IGKC) which comprises three alleles, Km 1 , Km 1,2 and Km 3 corresponding to three allotypes, Km (1), Km (2) and Km (3) and can be easily studied at the DNA level, 14 has been implicated in various autoimmune diseases.…”

Antígenos de histocompatibilidade humanos e dermatologia: da pesquisa para a prática clínica

“…33 The HLA-DRB1*0404, -DRB1*1402 and -DRB1*1406 alleles were associated with FS in Indians from Terena and Xavante tribes. 34,35 Also in Brazilians, Pavoni et al reported increased frequency of HLA-DRB1*0101, -DRB1*0102, -DRB1*0103, -DRB1*0404, -DRB1*0406, -DRB1*0410, -DRB1*1406 and -DRB1*1601 alleles in patients with FS, and a negative association with HLA-DRB1*0301, -DRB1*0701, -DRB1?0801, -DRB1*1101, DRB1*1104 and -DRB1*1402 alleles. 36 From the analysis of these results it is possible to suggest an association of HLA-DRB1*04 and -DRB1*14 alleles with pemphigus, since they were associated with this disease in all the ethnicities studied.…”