Moraes J R, Moraes M E, Fernandez-Vina M, Diaz L A, Friedman H, Campbell I T, Alvarez R R, Sampaio S A, Rivitti E A, Stastny P
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8886.
Immunogenetics. 1991;33(5-6):388-91. doi: 10.1007/BF00216698.
Endemic pemphigus foliaceus (EPF), is an autoimmune disease associated with production of IgG antibodies against epidermal antigens. We have tested 38 patients and 50 control subjects living in endemic areas to investigate whether HLA genes are associated with host factors that determine whether or not exposed individuals will develop this disease. A variant of HLA-DR1, an antigen common in Blacks (DRB10102), was found to be the main susceptibility factor (relative risk = 7.3, P less than 0.0002). Two amino acids, in positions 85 and 86 of DRB1, distinguish DRB10102 from DRB1*0101. These residues appear to be involved in the formation of a functional epitope that causes T cell recognition and determines disease susceptibility. Moreover, subjects having DQw2 did not develop the disease, while the frequency of DQw2 in controls was 22% (RR = 0.04, P less than 0.006). Thus HLA genes appear to play a crucial role in the response to an environmental factor which in this setting frequently leads to the development of autoimmune disease. An HLA-DQ allele, DQw2, appears to be associated with factors that prevent the development of the disease in exposed individuals.
地方性落叶型天疱疮（EPF）是一种自身免疫性疾病，与针对表皮抗原的IgG抗体产生有关。我们对生活在流行地区的38名患者和50名对照者进行了检测，以研究HLA基因是否与决定暴露个体是否会患此病的宿主因素相关。发现HLA - DR1的一个变体，一种在黑人中常见的抗原（DRB10102），是主要的易感因素（相对风险 = 7.3，P小于0.0002）。DRB1的第85和86位的两个氨基酸将DRB10102与DRB1*0101区分开来。这些残基似乎参与了功能性表位的形成，该表位导致T细胞识别并决定疾病易感性。此外，具有DQw2的个体不会患此病，而对照组中DQw2的频率为22%（RR = 0.04，P小于0.006）。因此，HLA基因似乎在对环境因素的反应中起关键作用，在这种情况下，该环境因素经常导致自身免疫性疾病的发生。一种HLA - DQ等位基因DQw2似乎与防止暴露个体患此病的因素相关。
