与HLA相关的对高安动脉炎的易感性和抵抗力。

HLA-linked susceptibility and resistance to Takayasu arteritis.

作者信息

Dong R P, Kimura A, Numano F, Nishimura Y, Sasazuki T

机构信息

Department of Genetics, Kyushu University, Fukuoka, Japan.

出版信息

Heart Vessels Suppl. 1992;7:73-80. doi: 10.1007/BF01744548.

DOI:10.1007/BF01744548

PMID:1360976

Abstract

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, DRB11502, DRB50102, DQA10103, DQB10601, and DPB10901 alleles were significantly increased and the frequencies of HLA-Bw54, DRB10405, DRB40101, DQA10301, and 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 haplotype of HLA-B252-DRB11502-DRB50102-DQA10103-DQB1++ +0601-DPA102-DPB10901 may confer susceptibility to Takayasu arteritis while another haplotype of HLA-Bw54-DRB10405-DRB40101-DQA10301-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.

摘要

为了研究与大动脉炎发病机制相关的遗传因素，对日本人群中的患者进行了血清学分型检测 HLA-A、-B 和 -C 等位基因，并使用聚合酶链反应（PCR）/序列特异性寡核苷酸探针（SSOP）分析通过 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 和 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减少的等位基因之间存在明显的连锁不平衡。因此，HLA-B252-DRB11502-DRB50102-DQA10103-DQB1++ +0601-DPA102-DPB10901 单倍型可能赋予大动脉炎易感性，而 HLA-Bw54-DRB10405-DRB40101-DQA10301-DQB1++ +*0401 的另一种单倍型可能赋予对该病的抗性。这些观察结果清楚地表明，与 HLA 相关的基因参与了大动脉炎的发生发展。