Polymorphisms of HLA Class II Genes in Japanese Patients with Pemphigus Vulgaris and Pemphigus Foliaceus.
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概要
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Pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are autoimmune bullous diseases mediated by autoantibodies against keratinocyte adhesion molecules desmoglein 3 (Dsg3) and desmoglein 1 (Dsg1), respectively. The purpose of this study was to identify critical amino acid residues of PV and PF-associated HLA class II genes. Haplotype and allele distributions, along with molecular polymorphisms, of HLA class II genes were analyzed in 20 PV and 13 PF Japanese patients based on the PCR-RFLP. Each PV patient carried at least one allele of HLA-DRB1 *04 (*0403, *0404, *0406) and DRB1 *14 (*1401, *1405, *1406) subtypes, and 9 of 13 (69.2%) PF patients carried at least one allele of HLA-DRB1 *04 (*0403, *0404, *0406) and DRB1 *14 (*1401, *1405) subtypes. The HLA-DRB1*04 and DRB1*14 alleles carried by PV patients shared amino acid residues Phe<SUP>26</SUP>, Leu<SUP>67</SUP>, Arg<SUP>71</SUP> and Val<SUP>86</SUP>, as well as hydrophilic amino acid residues at position 70 on the DRB1 beta chain. The HLA-DRB1 alleles carried by PF patients shared hydrophobic amino acid residues at positions 26 and 67, and hydrophilic amino acid residues at positions 70 and 71. These findings suggest that susceptibility to PV or PF might be regulated by specific amino acid residues at positions 26, 67, 70, 71 and 86 at peptide binding sites of HLA-DRB1 molecules.
- 日本皮膚科学会大阪地方会の論文
日本皮膚科学会大阪地方会 | 論文
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