Genomic resources from the Yunnan-Guizhou Plateau reveal the linguistic-linked demographic history and insights into human adaptation and disease of multi-ancestry populations

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Genomic resources from the Yunnan-Guizhou Plateau reveal the linguistic-linked demographic history and insights into human adaptation and disease of multi-ancestry populations

Xin-Yu Lin^1,2,3*, Yan Liu^3,4,5*, Jing-Fei Zhang^1,2,3, Jia-Xiu Zhong^1,2,3, Shu-Han Duan^3,4,5, Xiang-Ping Li^3,4,5, Hao-Ran Su^3,4,5, Qing-Xin Yang^3,4,5, Xiao-Jun Liu^3,4,5, Qiu-Xia Sun^3,4,5, Chao Liu^6#, Meng-Ge Wang^3,4,5#, Guang-Lin He^3,4,5#, Yong-Xin Ma^1,2#

¹Department of Medical Genetics, West China Hospital of Sichuan University, Sichuan University, Chengdu 610041, China
²Frontiers Science Center for Disease-related Molecular Network, West China Hospital of Sichuan University, Sichuan University, Chengdu 610065, China
³Center for Archaeological Science, Sichuan University, Chengdu 610000, China
⁴Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China
⁵Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu 610000, China
⁶Anti-Drug Technology Center of Guangdong Province, Guangzhou 510000, China

^*These authors contributed equally to this work.
^#Correspondence: guanglinhescu@163.com (G.L.H.), liuchaogzf@163.com (C.L.) Menggewang2021@163.com (M.G.W.), mayongxin@gmail.com (Y.X.M.)

Received:2025-01-12 Accepted:2025-06-15
Supported by:
This work was supported by the National Natural Science Foundation of China (82402203 and 82202078), the Chongqing Natural Science Foundation Innovation and Development Joint Fund (CSTB2024NSCQ-LZX0005), 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 and 24SASB03), the 1.3.5 Project for Disciplines of Excellence, West China Hospital of Sichuan University, Sichuan University, (ZYJC20002), and the Sichuan Science and Technology Program (2024NSFSC1518).

Abstract

Abstract: The genetic structure and population history of ethno-linguistically diverse populations from the Yunnan-Guizhou Plateau remain underrepresented in human genomic research. We analyzed genome-wide data from 239 individuals in Guizhou, combined with modern and ancient datasets, to investigate their fine-scale genetic structure, demographic events, and functional consequences of adaptive genomic signatures. Our findings revealed three genetically distinct groups corresponding to linguistic categories, shaped by differential gene flow from ancient millet farmers and southern Chinese populations. We identified population-specific adaptive candidate genomic regions associated with immune, metabolic, and hematological functions. Additionally, we detected clinically relevant variants with implications for disease risk prediction and precision medicine. These findings underscore the importance of genetic diversity in understanding human adaptation and health disparities, offering a framework for equitable genomic research in underrepresented populations.

Key words: Guizhou populations, genetic structure, admixture, disease susceptibility, precision medicine.

Xin-Yu Lin, Yan Liu, Jing-Fei Zhang, Jia-Xiu Zhong, Shu-Han Duan, Xiang-Ping Li, Hao-Ran Su, Qing-Xin Yang, Xiao-Jun Liu, Qiu-Xia Sun, Chao Liu, Meng-Ge Wang, Guang-Lin He, Yong-Xin Ma. Genomic resources from the Yunnan-Guizhou Plateau reveal the linguistic-linked demographic history and insights into human adaptation and disease of multi-ancestry populations[J]. J Syst Evol.

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Genomic resources from the Yunnan-Guizhou Plateau reveal the linguistic-linked demographic history and insights into human adaptation and disease of multi-ancestry populations

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