Konieczna B, Stawarz M, Mackiewicz S
Arch Immunol Ther Exp (Warsz). 1983;31(2):153-60.
The HLA typing (A and B loci) was performed in 55 individuals with ankylosing spondylitis (a.s.) in 74 relatives of their families and in 394 normals. HLA B-27 antigen was found in 80% of tested patients with a.s. The relative risk for B-27 being 30.1 and for A2 -- 1.65. In patients with a.s. lacking B-27 antigen the course of the disease did not differ from that in B-27 positive subjects. Uveitis has been revealed in 36.4% of B-27 patients and only in 9.9% of those negative for B-27. The results obtained in families display four different patterns as concerns genetics and morbidity: 1) in all 3 generations the presence of B-27 was accompanied by a.s., 2) in none of tested family members (diseases or healty) the B-27 antigen was confirmed, 3) there was correlation between B-27 and the disease symptoms, 4) the incidence of a.s. was associated with B-27 homozygotism. The results favour the idea that B-27 antigen is a disease determining factor, however, there is probably another allelic gene (nes) cooperating with B-27 locus. The B-27 homozygotism increases markedly the risk for a.s. The course of the diseases seems to be determined by environmental factors.
对55例强直性脊柱炎患者、其74名亲属以及394名正常人进行了HLA分型（A和B位点）。在80%的强直性脊柱炎受试患者中发现了HLA B-27抗原。B-27的相对风险为30.1，A2的相对风险为1.65。在缺乏B-27抗原的强直性脊柱炎患者中，疾病进程与B-27阳性患者并无差异。36.4%的B-27患者出现了葡萄膜炎，而B-27阴性患者中只有9.9%出现了葡萄膜炎。在家族中获得的结果显示出四种关于遗传和发病率的不同模式：1）在所有三代中，B-27的存在都伴有强直性脊柱炎；2）在所有受试家庭成员（患病或健康）中均未证实存在B-27抗原；3）B-27与疾病症状之间存在相关性；4）强直性脊柱炎的发病率与B-27纯合性相关。这些结果支持了B-27抗原是疾病决定因素的观点，然而，可能还有另一个等位基因（nes）与B-27位点协同作用。B-27纯合性显著增加了患强直性脊柱炎的风险。疾病进程似乎由环境因素决定。
