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人口规模组织转录组学将长非编码RNA映射到复杂疾病
Olivia M de Goede1, Daniel C Nachun2, Nicole M Ferraro3
1Department of Genetics, Stanford University, Stanford, CA 94305, USA.
Cell
|April 17, 2021
概括
研究人员使用遗传和基因表达数据确定了与疾病相关的长非编码RNA (lncRNA) 基因. 许多已识别的lncRNA基因特征链接独立于蛋白质编码基因,揭示了新的生物学见解.
科学领域:
- 基因组学
- 分子生物学
- 生物信息学
背景情况:
- 长非编码RNA (lncRNAs) 在细胞功能中起着至关重要的作用.
- 在数以千计的疾病相关 lncRNA 中, 仍具有挑战性.
研究的目的:
- 系统地描述 lncRNA 基因的疾病和特征相关性.
- 分析 lncRNAs 的表达,基因调节,细胞背景和特征关联.
主要方法:
- 使用基因型组织表达 (GTEx) 项目的v8数据.
- 分析了14100个lncRNA基因的遗传和多组织转录数据.
- 在49个组织和101个复杂的遗传特征中检查了关联.
主要成果:
- 确定了1432个lncRNA基因特征关联.
- 发现800个独立于邻近蛋白质编码基因的强效应的关联.
- 与炎症性肠道疾病,糖尿病和冠状动脉疾病相关的 lncRNA 定量特征位;发现与体重指数的罕见变异关联.
结论:
- 这项研究为lncRNA基因特征关联提供了全面的资源.
- 突出了 lncRNAs 对人类复杂特征和疾病的独立贡献.
- 这为了解常见疾病的遗传基础提供了新的途径.
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