新加坡基因组研究所Varodom Charoensawan研究小组近日取得一项新成果。经过不懈努力，他们报道了亚洲人免疫细胞的多样性。相关论文发表在2025年3月19日出版的《细胞》杂志上。

研究组提出了亚洲免疫多样性图谱（AIDA），这是一个多国单细胞RNA测序（scRNA-seq）人类免疫细胞健康参考图谱。AIDA包括来自619名捐助者的1,265,624个循环免疫细胞，涵盖5个亚洲国家的7个人口群体，以及6个对照。虽然经常在大陆水平上比较人口群体，但该研究团队发现次大陆的多样性、年龄和性别普遍影响免疫细胞的细胞和分子特性。这些差异包括细胞邻域的不同丰度，以及与疾病风险、发病机制和诊断相关的细胞群和基因。该团队发现了影响细胞类型特异性基因表达的功能性遗传变异，这在非亚洲人群中代表性不足，并有助于了解疾病相关变异的背景。AIDA能够对多祖先疾病数据集进行分析，并促进亚洲及其他地区精准医学工作的发展。

据介绍，人类多样性与生物医学表型的关系普遍存在，但仍未得到充分研究，特别是在单细胞基因组学背景下。

附：英文原文

Title: Asian diversity in human immune cells

Author: Kian Hong Kock, Le Min Tan, Kyung Yeon Han, Yoshinari Ando, Damita Jevapatarakul, Ankita Chatterjee, Quy Xiao Xuan Lin, Eliora Violain Buyamin, Radhika Sonthalia, Deepa Rajagopalan, Yoshihiko Tomofuji, Shvetha Sankaran, Mi-So Park, Mai Abe, Juthamard Chantaraamporn, Seiko Furukawa, Supratim Ghosh, Gyo Inoue, Miki Kojima, Tsukasa Kouno, Jinyeong Lim, Keiko Myouzen, Sarintip Nguantad, Jin-Mi Oh, Nirmala Arul Rayan, Sumanta Sarkar, Akari Suzuki, Narita Thungsatianpun, Prasanna Nori Venkatesh, Jonathan Moody, Masahiro Nakano, Ziyue Chen, Chi Tian, Yuntian Zhang, Yihan Tong, Crystal T.Y. Tan, Anteneh Mehari Tizazu, Marie Loh, You Yi Hwang, Roger C. Ho, Anis Larbi, Tze Pin Ng, Hong-Hee Won, Fred A. Wright, Alexandra-Chloé Villani, Jong-Eun Park, Murim Choi, Boxiang Liu, Arindam Maitra, Manop Pithukpakorn, Bhoom Suktitipat, Kazuyoshi Ishigaki, Yukinori Okada, Kazuhiko Yamamoto, Piero Carninci, John C. Chambers, Chung-Chau Hon, Ponpan Matangkasombut, Varodom Charoensawan

Issue&Volume: 2025-03-19

Abstract: 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.

DOI: 10.1016/j.cell.2025.02.017

Source: https://www.cell.com/cell/abstract/S0092-8674(25)00202-8