OPG/RANK/RANKL轴与患有输血依赖性血症的儿童心脏铁过载的关系
Samira Zein Sayed1, Asmaa Hosni Abd El-Hafez1, Mostafa Ahmed Abu El-Ela2
1Department of Pediatrics, Faculty of Medicine, Minia University, El Minya, Egypt.
Scientific reports
|August 2, 2023
概括
在OPG/RANK/RANKL轴上的遗传变异可能作为铁过载心肌病在患有输血依赖性沙拉西米亚 (TDT) 的儿童的生物标志物. 特定的多态性与TDT患者的心肌铁水平和心脏功能有关.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 血液学 血液学 血液学
背景情况:
- OPG/RANK/RANKL轴与各种疾病有关,包括骨和心血管疾病.
- 铁过载心肌病是患有输血依赖性沙拉西米亚 (TDT) 的儿童的重大并发症.
研究的目的:
- 调查OPG,RANK和RANKL基因多态和等位基因之间的关联以及TDT儿童中铁过载心肌病的发展.
- 评估这些遗传变异与心肌铁状况和心脏功能之间的关系.
主要方法:
- 使用实时PCR对80名TDT儿童和80名对照进行OPG (rs207318),RANK (rs1805034,rs1245811,rs75404003) 和RANKL (rs9594782,rs2277438) 多态的基因定型.
- 使用T2*MRI进行心肌铁负荷和心脏功能喷射率 (EF) 的心脏评估.
主要成果:
- 在TDT病例和对照之间没有观察到多态度频率的显著差异.
- OPG rs2073618 (G>C) 多态性与心肌铁过载相关 (p=0.02),C等位基因与更好的EF相关 (p=0.04).
- RANK rs75404403 (C>DEL) 与心脏功能障碍有关 (p=0.02),C等位基因表现出更频繁的受影响EF (p=0.02).
- RANKL rs2277438 (G>A) 显示,A等位基因与较少的严重心脏铁过载相关 (p=0.04).
结论:
- 在TDT中,OPG/RANK/RANKL基因通路可能作为铁诱导心肌病的遗传标记物.
- 这些基因中的特定多态和等位基因与心肌铁过载和TDT儿童的心脏功能障碍有显著的关联,突出了它们作为预测标记物的潜力.
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