2025-04-04 理化学研究所
<関連情報>
- https://www.riken.jp/press/2025/20250404_1/index.html
- https://www.cell.com/cell/fulltext/S0092-8674(25)00202-8
ヒト免疫細胞におけるアジアの多様性 Asian diversity in human immune cells
Kian Hong Kock∙ Le Min Tan∙ Kyung Yeon Han∙ … ∙ Jay W. Shin∙ Woong-Yang Park∙ Shyam Prabhakar
Cell Published:March 19, 2025
DOI:https://doi.org/10.1016/j.cell.2025.02.017
Graphical abstract
Highlights
- Asian Immune Diversity Atlas: a multi-national immune atlas of diverse populations
- Impact of self-reported ethnicity, genetic ancestry, sex, and age on molecules and cells
- Differential abundance of cell neighborhoods across population groups
- Population-specific functional variants (eQTLs) contextualize disease-associated loci
Summary
The relationships of human diversity with biomedical phenotypes are pervasive yet remain understudied, particularly in a single-cell genomics context. Here, we present the Asian Immune Diversity Atlas (AIDA), a multi-national single-cell RNA sequencing (scRNA-seq) healthy reference atlas of human immune cells. AIDA comprises 1,265,624 circulating immune cells from 619 donors, spanning 7 population groups across 5 Asian countries, and 6 controls. Though population groups are frequently compared at the continental level, we found that sub-continental diversity, age, and sex pervasively impacted cellular and molecular properties of immune cells. These included differential abundance of cell neighborhoods as well as cell populations and genes relevant to disease risk, pathogenesis, and diagnostics. We discovered functional genetic variants influencing cell-type-specific gene expression, which were under-represented in non-Asian populations, and helped contextualize disease-associated variants. AIDA enables analyses of multi-ancestry disease datasets and facilitates the development of precision medicine efforts in Asia and beyond.
