Asian diversity in human immune cells

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 KounoJinyeong 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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2288-2306.e24
JournalCell
Volume188
Issue number8
DOIs
Publication statusPublished - 17 Apr 2025

Keywords

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

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