Visceral leishmaniasis (VL) caused by Leishmania chagasi is endemic to northeast Brazil. A positive delayed-type hypersensitivity skin test response (DTH+) is a marker for acquired resistance to disease, clusters in families and may be genetically controlled. Twenty-three single nucleotide polymorphisms (SNPs) were genotyped in the cytokine 5q23.3-q31.1 region IRF1-IL5-IL13-IL4-IL9-LECT2-TGFBI in 102 families (323 DTH+; 190 DTH-; 123 VL individuals) from a VL endemic region in northeast Brazil. Data from 20 SNPs were analyzed for association with DTH+/- status and VL using family-based, stepwise conditional logistic regression analysis. Independent associations were observed between the DTH+ phenotype and markers in separate linkage disequilibrium blocks in LECT2 (OR 2.25; P=0.005; 95% CI=1.28-3.97) and TGFBI (OR 1.94; P=0.003; 95% CI=1.24-3.03). VL child/parent trios gave no evidence of association, but the DTH- phenotype was associated with SNP rs2070874 at IL4 (OR 3.14; P=0.006; 95% CI=1.38-7.14), and SNP rs30740 between LECT2 and TGFBI (OR 3.00; P=0.042; 95% CI=1.04-8.65). These results indicate several genes in the immune response gene cluster at 5q23.3-q31.1 influence outcomes of L. chagasi infection in this region of Brazil.

中文翻译：

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人类染色体5q31.1上的基因调节与南美白喉利什曼原虫感染相关的迟发型超敏反应。

由南美白斑利什曼病引起的内脏利什曼病（VL）是巴西东北部特有的。阳性迟发型超敏反应皮肤测试反应（DTH +）是获得性抗病能力的标记，是家庭中的簇群，并且可以通过基因控制。在102个家庭（323个DTH +; 190个DTH-; 123个VL个体）的细胞因子5q23.3-q31.1区IRF1-IL5-IL13-IL4-IL9-LECT2-TGFBI中对23个单核苷酸多态性（SNP）进行基因分型。来自巴西东北部的VL流行地区。使用基于族的逐步条件对数回归分析，分析了来自20个SNP的数据与DTH +/-状态和VL的关联。在LECT2（OR 2.25; P = 0.005; 95％CI = 1.28-3.97）和TGFBI（OR 1.94; P = 0.003; 95％CI = 1.24-3.03）中单独的连锁不平衡区中的DTH +表型与标记之间观察到独立的关联。 ）。VL儿童/父母三重奏没有关联的证据，但DTH表型与IL4的SNP rs2070874（OR 3.14; P = 0.006; 95％CI = 1.38-7.14）和LECT2和TGFBI的SNP rs30740相关（OR 3.00）。 ； P = 0.042； 95％CI = 1.04-8.65）。这些结果表明免疫应答基因簇中5q23.3-q31.1处的几个基因影响巴西这个地区的南美锥虫感染的结果。