Carlsson B, Wallin J, Pirskanen R, Matell G, Smith C I
Center for Biotechnology, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden.
Immunogenetics. 1990;31(5-6):285-90. doi: 10.1007/BF02115001.
We have investigated the HLA-DRB and -DQB gene polymorphism in 131 myasthenia gravis (MG) patients. The HLA genotypes in these patients were assigned by means of restriction fragment length polymorphism (RFLP)-defined DR-DQ haplotypes, correlating to serologic HLA class II typing. Using this technique we could, among randomly selected non-thymomatous (NT)-MG patients, confirm the strong association to DR3, and 70% of the patients were found to carry a specific DR3-positive DR-DQ haplotype, T-3.1. Furthermore, an analysis of T-3.1- NT-MG patients revealed that 59% were T-4.1+ (DR4, DQw8). Thymic hyperplasia was found in approximately 85% of the T-3.1+, as well as of the T-4.1+/3.1- patients. As previously observed, we found a clear dominance of females among the T-3.1+ NT-MG patients. However, among T-4.1+/3.1- patients, males were as common as females. Furthermore, the T-4.1+ patients were significantly older at the onset of disease than those who were T-3.1+. In female MG patients, the DRw15-Dw2-positive haplotype T-2.1 was strongly correlated with the presence of thymoma (T-MG). These data indicate that the HLA associations in early vs late onset of NT-MG are different, and that female patients with and without thymoma differ from each other with regard to HLA markers. Thus, at least three different HLA DR-DQ associations are found in subgroups of idiopathic MG.
我们研究了131例重症肌无力(MG)患者的HLA - DRB和 - DQB基因多态性。通过限制性片段长度多态性(RFLP)定义的DR - DQ单倍型对这些患者的HLA基因型进行分型,该分型与血清学HLA II类分型相关。运用这项技术,在随机选择的非胸腺瘤型(NT)- MG患者中,我们证实了与DR3的强关联性,并且发现70%的患者携带特定的DR3阳性DR - DQ单倍型,即T - 3.1。此外,对T - 3.1 - NT - MG患者的分析显示,59%为T - 4.1 +(DR4,DQw8)。在大约85%的T - 3.1 +患者以及T - 4.1 + / 3.1 -患者中发现了胸腺增生。如先前观察到的,我们发现在T - 3.1 + NT - MG患者中女性明显占优势。然而,在T - 4.1 + / 3.1 -患者中,男性和女性数量相当。此外,T - 4.1 +患者发病时的年龄显著大于T - 3.1 +患者。在女性MG患者中,DRw15 - Dw2阳性单倍型T - 2.1与胸腺瘤(T - MG)的存在密切相关。这些数据表明,NT - MG早发和晚发患者的HLA关联不同,并且有胸腺瘤和无胸腺瘤的女性患者在HLA标记方面存在差异。因此,在特发性MG的亚组中发现了至少三种不同的HLA DR - DQ关联。