中国免疫多组学图谱，这一成果由深圳华大基因研究院刘传宇课题组经过不懈努力而取得。相关论文于2026年1月8日发表在《科学》杂志上。

该研究组展示了中国免疫多组学图谱（CIMA），通过对来自428名中国成年人的1000多万个循环免疫细胞的多组学分析，表征了与性别、年龄和遗传变异相关的分子变异。CIMA建立了包含237条基因的增强子驱动基因调控网络；在细胞类型分辨率上鉴定了9600个eGenes和52361个caPeaks；并揭示了免疫相关疾病风险位点、顺式表达数量性状位点（QTLs）和染色质可及性QTLs之间的多效性关联。

此外，细胞语言模型CIMA-CLM预测染色质可及性，并评估来自染色质序列和基因表达的非编码变异的影响。CIMA为免疫相关疾病的研究提供了全面的参考。

据了解，人类外周血在人群中表现出分子和细胞的异质性，但潜在的机制尚不清楚。

附：英文原文

Title: Chinese Immune Multi-Omics Atlas

Issue&Volume: 2026-01-08

Abstract: Human peripheral blood exhibits molecular and cellular heterogeneity across populations, yet the underlying mechanisms remain unclear. We present the Chinese Immune Multi-Omics Atlas (CIMA), characterizing molecular variations linked to sex, age, and genetic variants through multi-omics analysis of more than 10 million circulating immune cells from 428 Chinese adults. CIMA established an enhancer-driven gene regulatory network comprising 237 robust regulons; identified 9600 eGenes and 52,361 caPeaks at cell type resolution; and revealed pleiotropic associations among immune-related disease risk loci, cis-expression quantitative trait loci (QTLs), and chromatin accessibility QTLs. Furthermore, the cell language model CIMA-CLM predicted chromatin accessibility and evaluated the effects of noncoding variants from chromatin sequences and gene expression. CIMA provides a comprehensive reference for immune-related disease research.

DOI: adt3130

Source: https://www.science.org/doi/10.1126/science.adt3130