1175-单细胞分辨率下的炎症性肠病遗传风险图谱

这份名为 IBDverse 的研究构建了目前规模最大的克隆氏症及溃疡性结肠炎单细胞转录组图谱，涵盖了来自 421 名受试者的 220 万个细胞。研究人员通过对比血液和肠道组织的 eQTL 数据发现，相比于传统的整体组织分析，单细胞分辨率能更精准地揭示遗传变异如何调节特定细胞类型的基因表达。该研究成功锁定了超过一半已知相关位点的致病效应基因，并首次发现了 74 个致病位点，显著提升了对复杂疾病遗传机制的理解。特别地，研究揭示了髓系细胞中的 Notch 信号通路异常以及上皮干细胞中 Wnt 信号通路的功能障碍在肠道炎症中的关键作用。这些发现不仅为理解炎症性肠病提供了分子图谱，还为药物开发和现有药物的重新利用提供了重要的遗传学支撑。References:* Alegbe T, Harris B T, Fachal L, et al. Cell-type-resolved genetic va...去小宇宙查看完整单集简介前往小宇宙评论区与主播互动

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