Asian diversity in human immune cells

Asian diversity in human immune cells

Cell

10.1016/j.cell.2025.02.017

https://doi.org/10.1016/j.cell.2025.02.017

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, Partha P. Majumder, Jay W. Shin, Woong-Yang Park, Shyam Prabhakar

genomics, genetics, single-cell RNA sequencing, human diversity, sub-continental diversity, genetic diversity, immune cells, healthy baseline, eQTL, precision medicine

19 March 2025

Kock, K. H., Tan, L. M., Han, K. Y., Ando, Y., Jevapatarakul, D., Chatterjee, A., Lin, Q. X. X., Buyamin, E. V., Sonthalia, R., Rajagopalan, D., Tomofuji, Y., Sankaran, S., Park, M.-S., Abe, M., Chantaraamporn, J., Furukawa, S., Ghosh, S., Inoue, G., Kojima, M., … Prabhakar, S. (2025). Asian diversity in human immune cells. Cell, 188(8), 2288-2306.e24. https://doi.org/10.1016/j.cell.2025.02.017

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.

Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

This research / project is supported by the Chan Zuckerberg Foundation - Seed Networks for the Human Cell Atlas
Grant Reference no. : CZF2019-002446

This research / project is supported by the Chan Zuckerberg Foundation - Seed Networks for the Human Cell Atlas
Grant Reference no. : CZF2021-238829 (5022)

This research / project is supported by the Chan Zuckerberg Initiative (CZI) DAF - Seed Networks for the Human Cell Atlas
Grant Reference no. : 2020-224570

This research / project is supported by the Chan Zuckerberg Initiative (CZI) DAF - Ancestry Networks for the Human Cell Atlas
Grant Reference no. : 2021-240178

This research / project is supported by the Chan Zuckerberg Initiative (CZI) DAF - Ancestry Networks for the Human Cell Atlas
Grant Reference no. : 2023-330381

This research / project is supported by the Singapore Ministry of Health’s National Medical Research Council - Open Fund - Large Collaborative Grant
Grant Reference no. : OF-LCG: MOH-000271-00

This research / project is supported by the Nanyang Technological University - NA
Grant Reference no. : NA

This research / project is supported by the Lee Kong Chian School of Medicine - NA
Grant Reference no. : NA

This research / project is supported by the National Healthcare Group, Singapore - NA
Grant Reference no. : NA

This research / project is supported by the Agency for Science, Technology and Research - Industry Alignment Fund (pre-positioning)
Grant Reference no. : H17/01/a0/007

This research / project is supported by the Agency for Science, Technology and Research - Industry Alignment Fund (pre-positioning)
Grant Reference no. : H18/01/a0/020

This research / project is supported by the Japan Ministry of Education, Culture, Sports, Science and Technology (MEXT) - NA
Grant Reference no. : NA

This research / project is supported by the Thailand Program Management Unit for Competitiveness Enhancement (PMU-C) - NA
Grant Reference no. : C10F650132

This research / project is supported by the Mahidol University - Basic Research Fund: fiscal year 2021
Grant Reference no. : BRF1-017/2564

This research / project is supported by the Mahidol University - Fundamental Fund: fiscal years 2021, 2024
Grant Reference no. : NA

This research / project is supported by the Agency for Science, Technology and Research - Joint Council Office
Grant Reference no. : 1434M00115

This research / project is supported by the Agency for Science, Technology and Research - SIgN Immunomonitoring Platform
Grant Reference no. : BMRC: IAF 311006, transition funds H16/99/b0/011

This research / project is supported by the National Research Foundation - Immunomonitoring Service Platform grant
Grant Reference no. : NRF2017_SISFP09

This research / project is supported by the Singapore Ministry of Education - Academic Research Fund Tier 1 and Tier 2
Grant Reference no. : Academic Research Fund Tier 1 FY2023, 23-0434-A0001, and 22-5800-A0001; Tier 2: MOE-T2EP30123-0015

This research / project is supported by the National University of Singapore - Precision Medicine Translational Research Programme Core Funding
Grant Reference no. : NUHSRO/2020/080/MSC/04/PM

This research / project is supported by the National University of Singapore (NUS) - NUS ODPRT Seed Funding and NUS YLLSoM Seed Funding
Grant Reference no. : NA

This research / project is supported by the MGI - IRP scholarship
Grant Reference no. : NA

Cell 188, 2288–2306, April 17, 2025 (C) 2025 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

https://oar.a-star.edu.sg/communities-collections/articles/22133

0092-8674

Genome Institute of Singapore

https://doi.org/10.1016/j.cell.2025.02.017