Despite intense efforts, the number of new cases of leprosy has remained significantly high over the past 20 years. Host genetic background is strongly linked to the pathogenesis of this disease, which is caused by Mycobacterium leprae (M. leprae), and there is a consensus that the most significant genetic association with leprosy is attributed to the major histocompatibility complex (MHC). Here, we investigated the association of human leukocyte antigen (HLA) class I and II genes with leprosy in a Brazilian population encompassing 826 individuals from a hyperendemic area of Brazil; HLA typing of class I (-A, -B, -C) and class II (-DRB1, -DQA1, -DQB1, -DPA1, and -DPB1) loci was conducted. Initially, the associations were tested using the chi-square test, with p-values adjusted using the false discovery rate (FDR) method. Next, statistically significant signals of the associations were submitted to logistic regression analyses to adjust for sex and molecular ancestry data. The results showed that HLA-C*08, -DPB1*04, and -DPB1*18 were associated with protective effects, while HLA-C*12 and -DPB1*105 were associated with susceptibility to leprosy. Thus, our findings reveal new associations between leprosy and the HLA-DPB1 locus and confirm previous associations between the HLA-C locus and leprosy.

尽管做出了巨大努力，但在过去 20 年中，麻风新病例的数量仍然居高不下。宿主遗传背景与这种由麻风分枝杆菌( M. leprae )引起的疾病的发病机制密切相关，并且一致认为与麻风病最重要的遗传关联归因于主要组织相容性复合体 (MHC)。在这里，我们调查了巴西人群中人类白细胞抗原 (HLA) I 类和 II 类基因与麻风病的关联，该人群包括来自巴西高流行区的 826 人；HLA 分型 I 类（-A、-B、-C）和 II 类（-DRB1、-DQA1、-DQB1， - DPA1，和- DPB1）位点中进行。最初，使用卡方检验测试关联，使用错误发现率 (FDR) 方法调整 p 值。接下来，将关联的统计显着信号提交给逻辑回归分析，以调整性别和分子血统数据。结果表明，HLA-C*08、-DPB1*04和-DPB1*18与保护作用相关，而HLA-C*12和-DPB1*105与麻风易感性相关。因此，我们的研究结果揭示了麻风病与HLA-DPB1 基因座之间的新关联并确认HLA-C 基因座与麻风病之间的先前关联。