Legrand L, Lathrop G M, Bardin T, Marcelli-Barge A, Dryll A, Debeyre N, Ryckewaert A
Ann Rheum Dis. 1987 May;46(5):395-7. doi: 10.1136/ard.46.5.395.
The frequencies of HLA-A, B, C, DR, and BF haplotypes in 44 unrelated Caucasian patients with definite seropositive rheumatoid arthritis (RA) were compared with haplotype frequencies in controls. Overall, the patients had an increased risk for HLA-DR4, DR3, and DR2 antigens, but frequencies of certain DR4 or DR3 haplotypes were not increased, suggesting the importance of other HLA loci for the evaluation of risk. The presence of DR4 alone was not found to produce an increased risk for RA since the frequencies of certain DR4 haplotypes were similar in patients and controls. Increased frequencies of HLA-B18, DR4, HLA-B15, DR4, and HLA-A1, B8, Cw7, DR3 haplotypes were found in patients. RA susceptibility has been found to be associated with the last two haplotypes in some studies of multiple case families, suggesting that similar genetic mechanisms may underlie the disease in familial and sporadic forms.
将44名确诊为血清阳性类风湿性关节炎(RA)的无亲缘关系的白种患者的HLA - A、B、C、DR和BF单倍型频率与对照组的单倍型频率进行了比较。总体而言,患者携带HLA - DR4、DR3和DR2抗原的风险增加,但某些DR4或DR3单倍型的频率并未增加,这表明其他HLA基因座对于评估风险具有重要意义。由于某些DR4单倍型在患者和对照组中的频率相似,因此未发现单独存在DR4会增加患RA的风险。在患者中发现HLA - B18、DR4、HLA - B15、DR4以及HLA - A1、B8、Cw7、DR3单倍型的频率增加。在一些多病例家族研究中,已发现RA易感性与后两种单倍型相关,这表明家族性和散发性形式的疾病可能具有相似的遗传机制。