Makkawi Abier Abdelaziz Makkawi Abdelrahman, GumaaElzaki Salah Eldin GumaaElzaki, Allam Nahla Allam, Mohammed Nadia Madani Mohammed Ahmed, Husain Nazik Elmalaika Obaid Seid Ahmed Husain
Department of Haematology, College of Graduate Studies and Scientific Research, Karary University, Khartoum, Sudan.
Department of Molecular Epidemiology. Tropical Medicine Research Institute, National Center for Research, Khartoum, Sudan.
BMC Res Notes. 2025 Feb 17;18(1):70. doi: 10.1186/s13104-025-07095-5.
To investigate the influence of genetic variants IL-6 (-174 G/C) and interferon-gamma (IFNγ) (+ 874 A/T) on beta-globin gene expression, inflammation markers such as C-reactive protein (CRP), and their diagnostic impact on anemic Sudanese children with kidney failure.
Severe and moderate anemia were observed in 88.9% of children aged 5-15 years. Semi-quantified molecular analysis of allele-specific genomic content (Lane%) revealed a correlation with disease severity. For interferon-gamma (+ 874 A/T), the AA genotype expressed the highest beta-globin gene Lane% value (5.22 ± 2.15), with beta-globin gene expression showing diagnostic utility at an area under the curve (AUC) of 0.646 (95% confidence interval (CI): 0.472-0.820). For IL-6 (-174 G/C), the CC genotype exhibited the highest Lane% value (5.82 ± 2.34), and Lane% content was more diagnostic compared to beta-globin gene expression, with an AUC of 0.715 (95% CI: 0.471-0.959). C-reactive protein showed significant diagnostic value as a marker of inflammation, with AUC values for interferon-gamma at 0.618 (95% CI: 0.443-0.793) and IL-6 at 0.663 (95% CI: 0.502-0.823). These findings highlight the role of IL-6 and interferon-gamma genetic variants in the severity of anemia and their diagnostic potential in children with kidney failure.
研究白细胞介素-6(IL-6)(-174 G/C)和干扰素-γ(IFNγ)(+874 A/T)基因变异对β-珠蛋白基因表达、炎症标志物如C反应蛋白(CRP)的影响,以及它们对患有肾衰竭的贫血苏丹儿童的诊断价值。
在5至15岁的儿童中,88.9%观察到重度和中度贫血。等位基因特异性基因组含量(泳道百分比)的半定量分子分析显示与疾病严重程度相关。对于干扰素-γ(+874 A/T),AA基因型表达的β-珠蛋白基因泳道百分比值最高(5.22±2.15),β-珠蛋白基因表达在曲线下面积(AUC)为0.646(95%置信区间(CI):0.472 - 0.820)时显示出诊断效用。对于IL-6(-174 G/C),CC基因型表现出最高的泳道百分比值(5.82±2.34),与β-珠蛋白基因表达相比,泳道百分比含量的诊断性更强,AUC为0.715(95% CI:0.471 - 0.959)。C反应蛋白作为炎症标志物显示出显著的诊断价值,干扰素-γ的AUC值为0.618(95% CI:0.443 - 0.793),IL-6的AUC值为0.663(95% CI:0.502 - 0.823)。这些发现突出了IL-6和干扰素-γ基因变异在贫血严重程度中的作用及其对肾衰竭儿童的诊断潜力。