大动脉炎的HLA连锁易感基因。

HLA-linked susceptibility gene of Takayasu Disease.

作者信息

Moriuchi J, Wakisaka A, Aizawa M, Yasuda K, Yokota A, Tanabe T, Itakura K

出版信息

Hum Immunol. 1982 Feb;4(1):87-91. doi: 10.1016/0198-8859(82)90054-4.

PMID:6120922

Abstract

The HLA-A, B, DR and MB antigens were investigated in patients suffering from Takayasu disease (Aortitis syndrome). Out of twenty-one HLA-A and B antigens tested, only HLA-Bw52 was significantly deviated (30147, PF = 63.8%, RR = 7.8) from the controls (14/76, PF = 18.4%). Since in the Japanese, HLA-Bw52 is in positive linkage disequilibria with HLA-DR2 and MB1, the association of the DR2 and MB1 antigens with Takayasu disease was studied. The HLA-DR2 antigen was significantly increased (23/30, PF = 76.7%,, RR = 6.0) in patients compared with the control (18/51, PF = 35.3%). Moreover, an almost perfect association of MBI (29/30, PF = 96.7%, RR = 12.6) with Takayasu disease was demonstrated. This finding supports the hypothesis that the genes in the HLA-D region play a major role in determining the susceptibility to Takayasu disease.

摘要

对大动脉炎（高安动脉炎综合征）患者的人类白细胞抗原A、B、DR和MB抗原进行了研究。在所检测的21种人类白细胞抗原A和B抗原中，只有人类白细胞抗原Bw52与对照组（14/76，表现型频率=18.4%）相比有显著偏差（30/47，表现型频率=63.8%，相对危险度=7.8）。由于在日本人中，人类白细胞抗原Bw52与人类白细胞抗原DR2和MB1呈正连锁不平衡，因此对DR2和MB1抗原与大动脉炎的关联进行了研究。与对照组（18/51，表现型频率=35.3%）相比，患者体内人类白细胞抗原DR2抗原显著增加（23/30，表现型频率=76.7%，相对危险度=6.0）。此外，还证实MBI（29/30，表现型频率=96.7%，相对危险度=12.6）与大动脉炎几乎完全相关。这一发现支持了以下假说，即人类白细胞抗原D区域的基因在决定大动脉炎易感性方面起主要作用。