一个多omics的方法来识别和验证共享的遗传结构在类风湿性关节炎,多发性硬化和1型糖尿病:集成GWAS,GEO,MSigDB和scRNA-seq数据

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Tailin Wang¹, Qian He¹, Kei Hang Katie Chan^2,3,4,5

¹Department of Biomedical Sciences, City University of Hong Kong, Kowloon, Hong Kong SAR, China.

Functional & integrative genomics

|April 20, 2025

概括

ROMO1被确定为类风湿性关节炎,1型糖尿病和多发性硬化症的关键共同遗传因素. 该基因影响免疫细胞模式,并可能通过调节单细胞表位来降低自身免疫性疾病的风险.

科学领域:

免疫遗传学免疫遗传学
自免疫性疾病自免疫性疾病
分子生物学分子生物学

背景情况:

诸如类风湿性关节炎 (RA),1型糖尿病 (T1D) 和多发性硬化症 (MS) 等自身免疫性疾病具有共同的遗传因素.
确切的遗传组件和驱动这种共同疾病的机制尚未完全理解.

研究的目的:

确定关键的共享遗传组件在RA,T1D和MS.
阐明这些自身免疫性疾病中共享遗传风险的潜在分子机制.

主要方法:

差异基因表达 (DGE) 和LASSO回归在大量RNA-seq数据上.
多样本分析与外部基因表达综合 (GEO) 数据.
基因组丰富分析 (GSEA),接收器操作特征 (ROC) 分析,单细胞RNA测序 (scRNA-seq) 和使用GWAS数据的门德尔随机化 (MR).

主要成果:

确定ROMO1是关联RA,T1D和MS的重要共同遗传因子.
在受影响的个体中,ROMO1表达始终与免疫细胞模式,特别是单细胞有关.
ROMO1涉及到反应性氧物种 (ROS) 途径,并可能作为疾病生物标志物.
核磁共振分析表明,ROMO1调节单细胞表位,可能降低自身免疫性疾病风险.

结论:

ROMO1在RA,T1D和MS的共同遗传结构中发挥着至关重要的作用.
了解ROMO1的机制为共享途径和自身免疫性疾病的潜在治疗点提供了洞察力.

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