在常见的环境暴露下,与疾病相关的位点与响应eQTL共享特性
Wenhe Lin1, Mingyuan Li2, Olivia Allen3
1Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.
bioRxiv : the preprint server for biology
|July 14, 2025
概括
环境暴露揭示了取决于环境的基因调节. 新的响应表达定量位置 (eQTL) 将遗传变异与环境反应联系起来,有助于疾病基因解释.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 环境健康 环境健康
背景情况:
- 与疾病相关的遗传位置经常表现出取决于背景的调节效应.
- 这些效应在典型的健康成年人组织转录组中表现不足.
- 了解跨不同环境和细胞类型的基因调节至关重要.
研究的目的:
- 为了研究基因调节在不同的环境条件和细胞环境.
- 为了确定影响环境暴露的监管变化的遗传局部.
- 探索响应eQTLs,疾病风险位置和基因调控格局之间的关系.
主要方法:
- 用尼古丁,咖啡因和乙醇*在体外*治疗各种人体细胞类型.
- 来自51个个体140万个细胞的单细胞RNA测序数据的生成.
- 识别和分析响应表达量位点 (eQTL) 和它们的监管目标.
主要成果:
- 确定了数百个响应eQTL,与监管变化中的个人间差异有关.
- 观察到动态调节效应在不同差异化轨迹中因暴露而有所不同.
- 响应eQTLs富含远端增强剂,调节具有复杂调节格局和进化约束的基因,并与与疾病相关的位置重叠.
结论:
- 基因调节是复杂的,并且取决于环境,环境暴露起着重要作用.
- 响应eQTL提供了对影响环境反应和疾病风险的遗传变异的见解.
- 未来对不同生物环境中的基因与环境相互作用的研究对于解释与疾病相关的位置至关重要.
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