EPISODE · Apr 17, 2026 · 21 MIN
807-多组织表观基因组变异与复杂疾病关联研究
from 聊聊Sci
这项研究通过对来自 GTEx 项目的 387 个人体组织样本（涵盖脑、心、肺和肌肉）进行 H3K27ac 组蛋白标记测定，构建了大规模的表观基因组图谱。研究者识别出约 28 万个活性调节元件 (AREs)，并揭示了它们在不同组织、性别及个体遗传差异下的活动特征。通过整合 GWAS 数据与组蛋白乙酰化定量性状位点（haQTLs），该研究成功定位了多种复杂疾病（如精神分裂症）在特定组织中的非编码区遗传驱动因素。此外，研究还开发了一种名为 gLink 的遗传证据评分框架，用于精准预测增强子与目标基因之间的调控环路。这些发现为理解人类性状和疾病的分子调控机制提供了重要的资源与理论支撑。References: Hou L, Xiong X, Park Y, et al. Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease[J]. Nature Genetics, 2023, 55(10): 1665-1676.前往小宇宙评论区与主播互动
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807-多组织表观基因组变异与复杂疾病关联研究
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