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整体外体序列测定识别了与内脏莱什曼病复发相关的EP300变体

Rimi Mukherjee¹, Sneha Singh¹, Kumar Abhishek²

¹Department of Molecular Biology, Indian Council of Medical Research - Rajendra Memorial Research Institute of Medical Sciences, Patna 800007, India.

International journal of biological macromolecules

|February 28, 2025

概括

主体遗传学影响AmBisome治疗后内脏莱什曼病 (VL) 复发. 特定的基因变异,特别是EP300,与VL复发易感性有关,这表明它在免疫反应中起作用.

科学领域:

遗传学和免疫学遗传学和免疫学
传染性疾病传染性疾病
基因组医学是基因组医学.

背景情况:

内脏莱什曼病 (VL) 仍然是印度的公共卫生问题,治疗复发构成了重大挑战.
导致VL复发易感性的遗传因素尚未得到充分了解.

研究的目的:

为了研究宿主基因在内脏莱什曼病复发中的作用.
为了确定与VL易感性和治疗后复发相关的遗传变异.

主要方法:

整体外基因组测序 (WES) 在健康,VL复发和非复发个体上进行.
在不同组之间比较非同义单核酸变体 (SNVs).
在复发病例中分析了免疫标记物的基因表达水平.

主要成果:

六种基因变异 (MTTP,ABCA4,CIB4,LRRIO1,NANOG,GCNT4) 与VL敏感性有显著的相关性.
包括EP300在内的12种变异与VL复发易感性有关.
在所有14例复发病例中都存在EP300突变;在复发病例中观察到免疫标记物 (CCL-2,CSF-1,IL-10,IL-6,PD-1,CTLA-4) 的升高.

结论:

主体遗传变异,特别是在EP300中,与内脏莱什曼病复发有关.
EP300变种可能会损害免疫反应,导致对VL复发的易感性增加.
识别遗传标记可以帮助预测和管理VL复发.

关键词:

主体防御和生物标志物卡拉阿扎尔 (Kala-azar) 是一个古老的城市.非同义的突变不同义的突变腹部莱什曼病 - 腹部莱什曼病整个外基因组的测序.

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