Mizuki N, Inoko H, Ando H, Nakamura S, Kashiwase K, Akaza T, Fujino Y, Masuda K, Takiguchi M, Ohno S
Department of Ophthalmology, Yokohama City University School of Medicine, Japan.
Am J Ophthalmol. 1993 Oct 15;116(4):406-9. doi: 10.1016/s0002-9394(14)71396-0.
The strong association of Behçet's disease with HLA-B51 in several ethnic groups is well known. Because the HLA-B51 antigen has been recently identified to comprise three alleles, HLA-B* 5101, HLA-B* 5102, and HLA-B* 5103, we sought to investigate whether there is any correlation of one particular allele among them with B51-positive patients with Behçet's disease. Forty-six Japanese patients with Behçet's disease and HLA-B51 were typed by using the alloantisera, which allowed the subdivision of B51 antigen by the microlymphocyte toxicity assay. All the patients were found to carry HLA-B* 5101. This result suggests that amino acid substitutions at residue 167 or 171 prevent the development of Behçet's disease, because HLA-B* 5101 differs from HLA-B* 5102 and HLA-B* 5103 by single amino acid substitution at residues 171 and 167, respectively, or that another non-HLA gene tightly linked to the HLA-B* 5101-associated haplotype around the HLA class I gene region is responsible for the susceptibility to Bechçet's disease. This study provides insight into the molecular mechanism underlying an HLA association with Behçet's disease.
白塞病与多个种族中的HLA - B51存在强关联，这是众所周知的。由于最近已确定HLA - B51抗原由三个等位基因组成，即HLA - B5101、HLA - B5102和HLA - B5103，我们试图研究它们中的某一个特定等位基因与B51阳性白塞病患者之间是否存在任何相关性。46名患有白塞病且携带HLA - B51的日本患者通过使用同种抗血清进行分型，该抗血清可通过微量淋巴细胞毒性试验对B51抗原进行细分。所有患者均被发现携带HLA - B5101。这一结果表明，167位或171位氨基酸的替换可预防白塞病的发生，因为HLA - B5101与HLA - B5102和HLA - B5103的区别分别在于171位和167位的单个氨基酸替换，或者是与HLA - B5101相关单倍型紧密连锁于HLA I类基因区域周围的另一个非HLA基因导致对白塞病易感。这项研究为HLA与白塞病关联的分子机制提供了深入见解。
