Dong R P, Kimura A, Okubo R, Shinagawa H, Tamai H, Nishimura Y, Sasazuki T
Department of Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Hum Immunol. 1992 Nov;35(3):165-72. doi: 10.1016/0198-8859(92)90101-r.
To investigate HLA-linked genetic factors involved in the pathogenesis of Graves' disease, 76 patients and 317 healthy controls in the Japanese population were examined for HLA-A, B, C, DR, and DQ specificities by serologic typing and for HLA-DPB1 alleles by DNA typing by using the PCR-SSOP method. The frequencies of HLA-A2, B46, Cw11, and DPB10501 were increased and those of HLA-A24, B7, Bw52, and DR1 were decreased in the patients. The increased frequencies of HLA-A2 and DPB10501 in the patients were statistically significant when the corrected p value (pc) was applied (pc < 0.02 and pc < 0.002, respectively). ORs for a risk to develop the disease were calculated among individuals positive for DPB10501 and/or HLA-A2, and the highest OR (10.5) was observed in individuals possessed both DPB10501 and HLA-A2. This observation suggests a synergic involvement of a HLA class II allele (DPB1*0501) and an HLA class I allele (HLA-A2) in the pathogenesis of Graves' disease.
为研究与格雷夫斯病发病机制相关的HLA连锁遗传因素，采用血清学分型法对日本人群中的76例患者和317名健康对照进行了HLA - A、B、C、DR和DQ特异性检测，并采用PCR - SSOP方法通过DNA分型检测了HLA - DPB1等位基因。患者中HLA - A2、B46、Cw11和DPB10501的频率升高，而HLA - A24、B7、Bw52和DR1的频率降低。当应用校正p值（pc）时，患者中HLA - A2和DPB10501频率的升高具有统计学意义（分别为pc < 0.02和pc < 0.002）。计算了DPB10501和/或HLA - A2阳性个体患该病的风险比值比（OR），在同时拥有DPB10501和HLA - A2的个体中观察到最高的OR（10.5）。这一观察结果表明，HLAⅡ类等位基因（DPB1*0501）和HLAⅠ类等位基因（HLA - A2）在格雷夫斯病的发病机制中协同作用。
