Mizuki N, Ohno S, Sato T, Ishihara M, Miyata S, Nakamura S, Naruse T, Mizuki H, Tsuji K, Inoko H
Department of Ophthalmology, Yokohama City University School of Medicine, Japan.
Hum Immunol. 1995 Jun;43(2):129-35. doi: 10.1016/0198-8859(94)00159-n.
Behçet's disease is associated with the HLA-B51 antigen. However, it has not yet been clarified if the HLA-B51 gene itself is the susceptibility gene related to this disease or if it is some other non-HLA gene in linkage disequilibrium with HLA-B51. Therefore, we screened one of the HSP70 genes, HUM70t (HSP70-Hom), around the class III region and the microsatellite sequence located between the HLA-B and TNF genes for genetic polymorphism in BD. A comparison between patients with BD and healthy controls revealed no significant difference in the frequency of the HUM70t polymorphism. In the microsatellite sequence, Tau-a, in the region between the HLA-B and TNF genes, the frequency of 14 repetitions of GT was increased significantly and that of 11 repetitions was decreased significantly in the patient group. Further, the allelic distributions of the B51 antigen-associated microsatellite polymorphism differed significantly between patients and healthy controls, and in the B51 antigen-negative subjects, analysis of the microsatellite polymorphism also revealed a significant difference in the haplotype frequency between the patient and control groups. These results suggest that the HLA-B51 gene may not be the primary locus responsible for BD, and implicate some other gene(s) located between the TNF and HLA-B genes.
白塞病与HLA - B51抗原相关。然而，HLA - B51基因本身是否是与该疾病相关的易感基因，或者它是否是与HLA - B51处于连锁不平衡状态的其他非HLA基因，目前尚未明确。因此，我们筛查了III类区域附近的一个热休克蛋白70（HSP70）基因HUM70t（HSP70 - Hom）以及位于HLA - B和肿瘤坏死因子（TNF）基因之间的微卫星序列在白塞病中的基因多态性。白塞病患者与健康对照之间的比较显示，HUM70t多态性频率无显著差异。在HLA - B和TNF基因之间区域的微卫星序列Tau - a中，患者组中GT重复14次的频率显著增加，而重复11次的频率显著降低。此外，B51抗原相关微卫星多态性的等位基因分布在患者和健康对照之间存在显著差异，并且在B51抗原阴性的受试者中，微卫星多态性分析也显示患者组和对照组之间单倍型频率存在显著差异。这些结果表明，HLA - B51基因可能不是白塞病的主要致病位点，并且提示TNF和HLA - B基因之间存在其他一些基因。
