Post-kala-azar dermal leishmanaisis (PKDL) in Sudan is associated with elevated interferon-gamma (IFN-gamma). To study interferon-gamma pathways in PKDL, we genotyped 80 trios from the Masalit ethnic group for polymorphisms at -470 ins/delTT, -270T/C, -56T/C and +95T/C in IFNGR1 and at -179G/A and +874T/A in IFNG. No associations occurred at IFNG. Global association with haplotypes comprising all four markers at IFNGR1 (chi(2)(10df)=21.97, P=0.015) was observed, associated with a significant (chi(2)(1df)=4.54, P=0.033) bias in transmission of the haplotype insTT T T T and less (chi(2)(1df)=5.59, P=0.018) than expected transmission of insTT C C C. When compared with data on malaria associations from Gambia, the results suggest a complex pattern of haplotypic variation at the IFNGR1 promoter locus associated with different infectious disease in African populations that reflect the complex roles of IFN-gamma in parasite killing versus inflammation and pathogenesis.

中文翻译：

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苏丹的IFNG和IFNGR1基因多态性和易感性皮肤利什曼病的易感性。

苏丹发生黑热病后皮肤利什曼病（PKDL）与干扰素-γ（IFN-γ）升高有关。为了研究PKDL中的干扰素-γ途径，我们对Masalit族的80个三位基因进行了基因分型，以检测IFNGR1和-179G / A基因在-470 ins / delTT，-270T / C，-56T / C和+ 95T / C的多态性。 IFNG中的+ 874T / A。IFNG没有发生关联。观察到与包含IFNGR1的所有四个标记的单倍型的全球关联（chi（2）（10df）= 21.97，P = 0.015），与显着（chi（2）（1df）= 4.54，P = 0.033）的偏倚相关insTT TTT的单倍型比预期的insTT CC C传播少（chi（2）（1df）= 5.59，P = 0.018）。与来自冈比亚的疟疾相关数据进行比较时，