Emtestam L, Wallberg P, Aldener A, Olerup O
Department of Dermatology, Huddinge Hospital, Sweden.
Br J Dermatol. 1996 May;134(5):886-91.
Many diseases with autoimmune features are associated with alleles of the human leucocyte antigen (HLA). However, few if any malignant disorders have reproducibly been shown to be HLA-associated. In three independent studies, using serological tissue typing techniques, an increase of the HLA class II specificity DR1 has been found in patients with multiple basal cell carcinomas. These observations prompted us to determine the frequencies of DRB1, DQA1, and DQB1 alleles by high-resolution genomic tissue-typing methods, including subdivision of the serological DR1 specificity in the four sequence-defined alleles, DRB10101 to DRB10104, in 50 unrelated Swedish patients with a history of four or more basal cell carcinomas and 250 healthy controls. The frequency of DR1 was the same in patients and controls (18%). All DR1-positive patients and controls carried the DQA10101 and DQB10501 alleles. Six of the nine DR1-positive patients and controls carried the DQA10101 and DQB10501 allels. Six of the nine DR1-positive patients were DRB10101-positive, one DRB10102 and two carried the DRB10103 allele. This distribution of DRB101 alleles did not differ from the one found in the controls. We conclude that genetic factors associated with the HLA class II region do not contribute significantly to the aetiology of multiple basal cell carcinomas.
许多具有自身免疫特征的疾病与人类白细胞抗原（HLA）的等位基因相关。然而，几乎没有恶性疾病被反复证明与HLA相关。在三项独立研究中，使用血清学组织分型技术，发现多发性基底细胞癌患者中HLA II类特异性DR1有所增加。这些观察结果促使我们通过高分辨率基因组组织分型方法来确定DRB1、DQA1和DQB1等位基因的频率，包括将血清学DR1特异性细分为四个序列定义的等位基因，即DRB10101至DRB10104，研究对象为50名有四个或更多基底细胞癌病史的无亲缘关系的瑞典患者以及250名健康对照。患者和对照中DR1的频率相同（18%）。所有DR1阳性的患者和对照都携带DQA10101和DQB10501等位基因。九名DR1阳性的患者和对照中有六名携带DQA10101和DQB10501等位基因。九名DR1阳性患者中有六名是DRB10101阳性，一名是DRB10102阳性，两名携带DRB10103等位基因。DRB101等位基因的这种分布与对照中发现的分布没有差异。我们得出结论，与HLA II类区域相关的遗传因素对多发性基底细胞癌的病因学没有显著贡献。
