Wan X L, Kimura A, Dong R P, Honda K, Tamai H, Sasazuki T
Department of Genetics, Medical Institute of Bioregulation, Fukuoka, Japan.
Hum Immunol. 1995 Feb;42(2):131-6. doi: 10.1016/0198-8859(94)00089-9.
HLA-linked genetic factors involved in the pathogenesis of HT were studied in 71 patients with HT by serologic typing for HLA-A, -B, -C, -DR, and -DQ specificities and by DNA typing for HLA-DRB1, -DRB3, -DRB4, -DRB5, -DQA1, -DQB1, AND -DPB1 genes using the PCR-SSOP method. Typing results demonstrated significant positive associations of HT with HLA-A2 and -DRB40101 (DR53) (p < 0.01, RR = 2.03, EF = 0.61 and p < 0.0001, RR = 4.48, EF = 0.69, respectively). Although HLA-DR8, -DRB10403, -DQA03, and -DQB10303 were statistically more prevalent in the patient group than in the controls, these associations were presumably due to the strong linkage disequilibria of these alleles with HLA-A2 or -DRB40101 in the Japanese population. Ninety-seven percent of the patients (69 out of 71) were positive for HLA-A2 or -DRB40101 compared to 79% in controls (RR = 8.7, p < 0.0005). The combination of HLA-A2 and -DRB40101 showed higher OR of risk for HT (OR = 12.8) than HLA-A2 (OR = 7.3) or DRB40101 (OR = 7.5) alone. These observations suggest that at least two loci, HLA-A and HLA-DRB4 together, may control the susceptibility to HT. On the other hand, the frequency of DQA10102 was significantly decreased in the patient group, suggesting that DQA10102 might confer resistance to HT.
通过对71例桥本甲状腺炎（HT）患者进行HLA - A、- B、- C、- DR和 - DQ特异性的血清学分型，以及使用PCR - SSOP方法对HLA - DRB1、- DRB3、- DRB4、- DRB5、- DQA1、- DQB1和 - DPB1基因进行DNA分型，研究了参与HT发病机制的HLA连锁遗传因素。分型结果显示，HT与HLA - A2和 - DRB40101（DR53）存在显著正相关（p < 0.01，RR = 2.03，EF = 0.61；p < 0.0001，RR = 4.48，EF = 0.69）。虽然HLA - DR8、- DRB10403、- DQA03和 - DQB10303在患者组中的统计学发生率高于对照组，但这些关联可能是由于这些等位基因在日本人群中与HLA - A2或 - DRB40101存在强连锁不平衡。71例患者中有69例（97%）HLA - A2或 - DRB40101呈阳性，而对照组为79%（RR = 8.7，p < 0.0005）。HLA - A2和 - DRB40101的组合显示出比单独的HLA - A2（OR = 7.3）或DRB40101（OR = 7.5）更高的HT发病风险OR（OR = 12.8）。这些观察结果表明，至少两个基因座HLA - A和HLA - DRB4共同控制着对HT的易感性。另一方面，患者组中DQA10102的频率显著降低，表明DQA10102可能赋予对HT的抗性。
