Bulat-Kardum L, Etokebe G E, Knezevic J, Balen S, Matakovic-Mileusnic N, Zaputovic L, Pavelic J, Beg-Zec Z, Dembic Z
Immunology Laboratory, Department of Oral Biology, University of Oslo, Oslo, Norway.
Scand J Immunol. 2006 Feb;63(2):142-50. doi: 10.1111/j.1365-3083.2005.01694.x.
We analysed frequencies of two single-nucleotide polymorphisms (SNP) in the interferon-gamma (IFN-gamma) receptor-1 (IFNGR1) gene promoter (G-611A, T-56C) in tuberculosis patients (n = 244) and compared them with controls (n = 521). These frequencies were not significantly different, whether analysed independently or as haplotypes. Because these SNP affect transcription, the results suggest that the expression of the IFNGR1 gene does not confer susceptibility to disease in patients from Croatia. Further analysis revealed a significant association between the protective (CA)(n) polymorphism (22 repeats, 192 FA(1)), located in the fifth intron of the IFNGR1 gene (+16682), and GT promoter haplotype (-611; -56) that showed the strongest expression capacity. In addition to this cis relationship, the (CA)(22) allele was correlated in trans with an IFN-gamma SNP (IFNG G + 2109A), which might affect the transcription of the IFNG gene. These results suggest that a particular combination of IFNG and IFNGR1 SNP might offer a better protection against tuberculosis in this population.
我们分析了结核病患者（n = 244）中干扰素-γ（IFN-γ）受体1（IFNGR1）基因启动子（G-611A、T-56C）的两个单核苷酸多态性（SNP）的频率，并将其与对照组（n = 521）进行比较。无论单独分析还是作为单倍型分析，这些频率均无显著差异。由于这些SNP影响转录，结果表明IFNGR1基因的表达不会使克罗地亚患者易患疾病。进一步分析显示，位于IFNGR1基因第五内含子（+16682）的保护性（CA）(n)多态性（22次重复，192 FA(1)）与显示最强表达能力的GT启动子单倍型（-611；-56）之间存在显著关联。除了这种顺式关系外，(CA)(22)等位基因在反式中与一个可能影响IFNG基因转录的IFN-γ SNP（IFNG G + 2109A）相关。这些结果表明，IFNG和IFNGR1 SNP的特定组合可能为该人群提供更好的结核病防护。
