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慢性病中心血管结果的全转录组关联研究:慢性功能不全队列
Bridget M Lin1, Jia Wen2, Andrea R V R Horimoto2
1Department of Biostatistics, University of North Carolina, Chapel Hill, NC, United States.
HGG advances
|January 9, 2026
概括
对心血管疾病的全转录组关联研究 (TWAS) 揭示了基因关联. 祖先匹配的基因表达引用改善了发现,突出了非洲祖先参与者的KDELR2和KHDRBS2.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病研究研究
- 生物信息学是一种生物信息学.
背景情况:
- 全转录组关联研究 (TWAS) 整合基因表达和全基因组关联数据以确定基因特征关联.
- 选择的基因表达基因基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因表达基因
- 了解心血管疾病的遗传基础对于公共卫生至关重要.
研究的目的:
- 调查多组织和祖先匹配基因表达引用对TWAS对心血管结果的影响.
- 在不同的祖先群体中识别新型的脑卒中,冠心病和心力衰竭的基因特征关联.
主要方法:
- 对心血管结果进行TWAS,使用慢性功能不全队列研究 (CRIC) 对非洲 (AFR) 和欧洲 (EUR) 血统参与者的数据.
- 使用祖先匹配和不匹配的EUR和AFR预测基因表达参考面板.
- 进行了多组织TWAS,整合了来自10个GTEx选择组织的基因表达数据.
主要成果:
- 在使用AFR参考小组 (p = 4.7 x 10^-6) 的AFR参与者中,TWAS确定了与心力衰竭相关的KDELR2.
- 在使用AFR参考小组时,PSMC1与欧盟参与者的冠心病有关.
- 多组织TWAS确定KHDRBS2与CRIC AFR参与者的所有原因中风有显著的关联 (p = 4.0 x 10^-6).
结论:
- 心血管疾病TWAS的基因发现受参与者的祖先和使用的基因表达参考小组的影响.
- 祖先匹配的基因表达引用增强了特定人群中相关基因的识别.
- 两种TWAS方法,特别是具有优化引用的方法,在识别与疾病相关的基因方面比传统的GWAS具有优势.
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