The influence of genetic variants of IL-6 (-174 G/C) and INFγ (+ 874 A/T) and their impact on anemic Sudanese children with kidney failure.

IF 1.7 Q2 MULTIDISCIPLINARY SCIENCES BMC Research Notes Pub Date : 2025-02-17 DOI:10.1186/s13104-025-07095-5
Abier Abdelaziz Makkawi Abdelrahman Makkawi, Salah Eldin GumaaElzaki GumaaElzaki, Nahla Allam Allam, Nadia Madani Mohammed Ahmed Mohammed, Nazik Elmalaika Obaid Seid Ahmed Husain Husain
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Abstract

Objectives: 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.

Results: 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.

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IL-6 (-174 G/C)和INFγ (+ 874 A/T)基因变异对苏丹贫血肾衰竭儿童的影响
目的:探讨遗传变异IL-6 (-174 G/C)和干扰素γ (IFNγ) (+ 874 A/T)对β -珠蛋白基因表达、炎症标志物如C反应蛋白(CRP)的影响及其对苏丹贫血肾衰竭儿童的诊断意义。结果:88.9%的5 ~ 15岁儿童出现重度和中度贫血。等位基因特异性基因组含量(Lane%)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Lane%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%可信区间(CI): 0.472-0.820)。对于IL-6 (-174 G/C), CC基因型的Lane%值最高(5.82±2.34),Lane%含量比β -珠蛋白基因表达更具有诊断价值,AUC为0.715 (95% CI: 0.471 ~ 0.959)。c反应蛋白作为炎症标志物具有重要的诊断价值,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)。这些发现强调了IL-6和干扰素- γ基因变异在贫血严重程度中的作用及其在肾衰竭儿童中的诊断潜力。
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来源期刊
BMC Research Notes
BMC Research Notes Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
3.60
自引率
0.00%
发文量
363
审稿时长
15 weeks
期刊介绍: BMC Research Notes publishes scientifically valid research outputs that cannot be considered as full research or methodology articles. We support the research community across all scientific and clinical disciplines by providing an open access forum for sharing data and useful information; this includes, but is not limited to, updates to previous work, additions to established methods, short publications, null results, research proposals and data management plans.
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