Dong R P, Kimura A, Numano F, Yajima M, Hashimoto Y, Kishi Y, Nishimura Y, Sasazuki T
Department of Genetics, Kyushu University, Fukuoka, Japan.
Tissue Antigens. 1992 Mar;39(3):106-10. doi: 10.1111/j.1399-0039.1992.tb01918.x.
Sixty-four patients with Takayasu arteritis and 317 healthy individuals 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 PCR/SSOP analysis. The frequencies of HLA-Bw52, DRB11502, DRB50102, DQA10103, DQB10601 and DPB10901 alleles were significantly increased and the frequencies of HLA-Bw54, DRB10405, DRB40101, DQA10301, DQB10401 alleles were significantly decreased. Strong linkage disequilibria among the increased alleles and among the decreased alleles were evident in the Japanese population. Therefore, the combination or haplotype of HLA-Bw52-DRB11502-DRB50102-DQA10103-DQB10601 -DPA102-DPB10901 may confer susceptibility to Takayasu arteritis while another combination or haplotype of HLA-Bw54-DRB10405-DRB40101-DQA10301-DQB1++ +0401 may confer resistance to the disease. Because this is the first evidence for the association between an HLA-DP allele and Takayasu arteritis, we examined the nucleotide sequences of the DPB10901 allele from a patient and her healthy relatives and found no difference. The disease is therefore not caused by a mutated DPB1 gene.
对64例大动脉炎患者和317名日本健康个体进行了HLA - A、- B和- C等位基因的血清学分型检测,以及通过PCR/SSOP分析进行DNA分型检测HLA - DR、DQ和DP等位基因。HLA - Bw52、DRB11502、DRB50102、DQA10103、DQB10601和DPB10901等位基因的频率显著增加,而HLA - Bw54、DRB10405、DRB40101、DQA10301、DQB10401等位基因的频率显著降低。在日本人群中,增加的等位基因之间以及降低的等位基因之间存在明显的连锁不平衡。因此,HLA - Bw52 - DRB11502 - DRB50102 - DQA10103 - DQB10601 - DPA102 - DPB10901的组合或单倍型可能赋予大动脉炎易感性,而HLA - Bw54 - DRB10405 - DRB40101 - DQA10301 - DQB10401的另一种组合或单倍型可能赋予对该病的抗性。由于这是HLA - DP等位基因与大动脉炎之间关联的首个证据,我们检测了一名患者及其健康亲属的DPB10901等位基因的核苷酸序列,未发现差异。因此,该疾病不是由DPB1基因突变引起的。