Science：我国学者绘制全球首个千万级免疫细胞图谱，揭开不同人群的免疫差异，为AI时代大健康绘制“生命导航图”

Core Insights - The article discusses the groundbreaking research published in Science, which presents the Chinese Immune Multi-Omics Atlas (CIMA), a comprehensive immune cell atlas based on over 10 million peripheral blood immune cells from 428 individuals in China, providing unprecedented insights into the immune system's functioning [4][30]. Group 1: Research Breakthroughs - CIMA represents the world's first immune cell atlas with a scale of over 10 million cells, integrating genomic, proteomic, RNA, and epigenomic data to create a high-resolution immune multi-omics map [4][8]. - The research identified 73 immune cell subtypes, including rare cells that constitute less than 0.1% of the blood, which play crucial roles in specific immune responses [8][9]. - The study established detailed "identities" for each cell type, documenting their distribution and gene expression characteristics, while exploring associations with physiological factors like age and gender [9][12]. Group 2: Gene Regulation Insights - The research mapped the gene regulatory networks of immune cells, revealing how transcription factors precisely control over 10,000 target genes, with unique regulatory patterns for different immune cell types [12][13]. - It highlighted the dynamic nature of the regulatory systems in immune cells, showing that nearly half of the genetic regulatory effects change with cell state during B cell and monocyte differentiation [13][30]. - The study also focused on non-coding regions, identifying 9,600 genetically regulated genes and over 50,000 chromatin open regions, with one-third of regulatory effects being cell type-specific [13][30]. Group 3: Disease Risk Mapping and AI Integration - The research integrated data from 154 molecular and disease traits, discovering 1,196 significant genetic associations across 68 immune cell types, with 73.2% of these associations being cell type-specific [15][30]. - An example provided is the identification of a key variant that regulates gene expression in regulatory T cells, influencing asthma risk, thus paving the way for precision treatment strategies [15][30]. - The team developed an innovative AI solution, the CIMA Cell Language Model, which predicts chromatin accessibility and assesses the functional impact of non-coding variants, demonstrating high accuracy in 32 immune cell types [18][30]. Group 4: Applications and Future Directions - The CIMA study exemplifies a new paradigm in precision health research, enabling digital analysis and insights into immune health, which can empower disease prevention and health management [22][30]. - A larger-scale CIMA Phase II plan has been initiated, expanding research to autoimmune diseases, cardiovascular diseases, and infectious diseases, utilizing new technologies for comprehensive immune mechanism analysis [25][30]. - The developed "Immune Translation Map" AI assessment model allows for high-precision evaluations of individual immune status, translating cutting-edge research into accessible health products [26][30].