HLA-Linked susceptibility and resistance to Takayasu Arteritis

To investigate genetic factors involved in the pathogenesis of Takayasu arteritis, patients in the Japanese population were examined for HLA-A, -B, and -C alleles by serological typing and for HLA-DR, DQ, and DP alleles by DNA typing using polymerase chain reaction (PCR)/sequence-specific oligonucleotide probe (SSOP) analysis. The frequencies of HLA-Bw52, DRB1^*1502, DRB5^*0102, DQA1^*0103, DQB1^*0601, and DPB1^*0901 alleles were significantly increased and the frequencies of HLA-Bw54, DRB1^*0405, DRB4^*0101, DQA1^*0301, and DQB1^*0401 alleles were significantly decreased. Strong linkage disequilibria among the increased alleles and among the decreased alleles were evident in the Japanese population. Therefore, the haplotype of HLA-Bw52-DRB1^*1502-DRB5^*0102-DQA1^*0103-DQB1^*0601-DPA1^*02-DPB1^*0901 may confer susceptibility to Takayasu arteritis while another haplotype of HLA-Bw54-DRB1^*0405-DRB4^*0101-DQA1^*0301-DQB1^*0401 may confer resistance to the disease. These observations clearly indicate that HLA-linked gene(s) are involved in the development of Takayasu arteritis.