Genomic insights into population structure, adaptation, and archaic introgression at the Himalayan–East Asian crossroads

Mengge Wang; Shuhan Duan; Qiuxia Sun; Yuntao Sun; Lintao Luo; Yunhui Liu; Renkuan Tang; Libing Yun; Chao Liu; Guanglin He

doi:10.1016/j.jgg.2025.09.010

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Genomic insights into population structure, adaptation, and archaic introgression at the Himalayan–East Asian crossroads

doi: 10.1016/j.jgg.2025.09.010

Mengge Wang^a,
Shuhan Duan^a,b,c,
Qiuxia Sun^b,c,
Yuntao Sun^b,c,d,
Lintao Luo^a,b,c,
Yunhui Liu^a,b,c,
Renkuan Tang^a,
Libing Yun^c,d,
Chao Liu^e,
Guanglin He^a,b,c

a. Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China;
b. Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu, Sichuan 610000, China;
c. Center for Archaeological Science, Sichuan University, Chengdu, Sichuan 610000, China;
d. West China School of Basic Science & Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, China;
e. Anti-Drug Technology Center of Guangdong Province, Guangzhou, Guangdong 510230, China

Funds:

This study was supported by the National Natural Science Foundation of China (82402203), the Major Project of the National Social Science Foundation of China (23&

ZD203), the Open Project of the Key Laboratory of Forensic Genetics of the Ministry of Public Security (2022FGKFKT05), the Center for Archaeological Science of Sichuan University (23SASA01), the 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University (ZYJC20002), and the Sichuan Science and Technology Program (2024NSFSC1518).

Received Date: 2025-06-28
Accepted Date: 2025-09-29
Rev Recd Date: 2025-09-28

Available Online: 2025-10-10

Abstract

Abstract

Tibetan-Yi Corridor (TYC) is a crucial agro-pastoral region in the eastern Himalayas, linking Qinghai‒Xizang Plateau with the lowlands of East Asia and facilitating human migration for millennia. However, genomic research on TYC populations remains limited, which limits the understanding of their origins and health. We provide genomic data from 1031 individuals belonging to Austroasiatic and Sino-Tibetan groups, including 147 whole-genome sequences from 13 underrepresented Tibeto-Burman and Austroasiatic communities. Our analysis reveals approximately 3.3 million new genetic variants and 4 distinct genetic backgrounds within TYC populations. Demographic reconstructions reveal strong genetic connections among Tibeto-Burman groups, Central Plain Sinitic populations, and Yangshao farmers, supporting a common origin for Sino-Tibetan speakers. We identify signatures of high-altitude adaptations typical of Tibetans and TYC-specific variants linked to pigmentation and hypoxia responses. Differentiation involves mechanisms such as HLA-DQB1, which are related to immune function. Several rare pathogenic variants, like CYP21A2 and PRX, are notably frequent. Variants influencing warfarin sensitivity show significant variation. Archaic human introgression further promotes genomic complexity, impacting cardiovascular and immune-related genes, which suggests adaptation through ancient human interactions. These findings refine the evolutionary history of TYC populations and underscore the need for broader genomic research to capture regional diversity and inform precision medicine.
- Tibetan-Yi Corridor,
- Sino-Tibetan,
- Distinct genetic backgrounds,
- High-altitude adaptive signatures,
- Archaic introgression,
- Precision medicine

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