POLYMORPHISMS OF HLA CLASS-II GENES IN JAPANESE PATIENTS WITH PEMPHIGUS-VULGARIS

Pemphigus vulgaris (PV) is an autoimmune disease mediated by autoantib odies that bind to a keratinocyte adhesion molecule, desmoglein-3. The purpose of this study was to identify critical amino acid residues of PV-associated HLA class II genes. Haplotype and allele distributions, along with molecular polymorphisms, of HLA class II genes were analyz ed based on the polymerase chain reaction-restriction fragment length polymorphism in 17 Japanese PV patients. Each patient had one or two a lleles of DRB104 (*0403, *0404, *0406) or DRB1*14 (*1401, *1405, *140 6) subtypes. All DRB104 and DRB1*14 alleles carried by PV patients wi th different ethnic backgrounds reported to date, including DRB0402, which confers strong susceptibility to PV among Jewish populations, ha ve amino acid residues Phe(26), Leu(67) or Ile(67), and Val(86), as we ll as hydrophilic amino acid residues at positions 70 and 71 of the DR B1 beta chain.