Petzl-Erler M L, Santamaria J
Department of Genetics, Federal University of Paraná, Curitiba, Brazil.
Tissue Antigens. 1989 Mar;33(3):408-14. doi: 10.1111/j.1399-0039.1989.tb01684.x.
In order to investigate the possible association between Brazilian pemphigus foliaceus and HLA, we studied 48 patients and 74 matched controls, all Brazilian Caucasoids, for HLA-A,B,C; DR1 to DRw8 and DQw1 to DQw3. The frequencies of DR1, DR4 and B16 were significantly increased, while DR7 was significantly decreased among the patients. Furthermore DQw2, likewise the DR specificities associated with it - DR3 and DR7 - never occurred among the patients in the absence of the susceptibility markers DR1, DQw1 or DR4, DQw3. Acting on these findings, we suggest that at least two MHC-class II genes are involved in the pathogenesis of Brazilian pemphigus foliaceus: at least one gene, associated to DR1,DQw1 and to DR4,DQw3, confers susceptibility and at least one gene, associated to DR7,DQw2 and DR3,DQw2, confers resistance. The susceptibility gene(s) seem(s) to be epistatic to or dominant over (if allelic) the resistance gene(s). Both are dominant over other alleles at their locus (or loci).
为了研究巴西落叶型天疱疮与人类白细胞抗原（HLA）之间可能存在的关联，我们对48例患者和74例匹配的对照者进行了研究，所有研究对象均为巴西白种人，检测了他们的HLA - A、B、C；DR1至DRw8以及DQw1至DQw3。患者中DR1、DR4和B16的频率显著升高，而DR7的频率显著降低。此外，在没有易感性标记DR1、DQw1或DR4、DQw3的患者中，DQw2以及与之相关的DR特异性（DR3和DR7）从未出现。基于这些发现，我们认为至少两个MHC - II类基因参与了巴西落叶型天疱疮的发病机制：至少一个与DR1、DQw1以及DR4、DQw3相关的基因赋予易感性，至少一个与DR7、DQw2以及DR3、DQw2相关的基因赋予抗性。易感性基因似乎对抗性基因具有上位性或显性作用（如果是等位基因）。两者在其基因座上对其他等位基因均呈显性。
