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 , 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
Journal of Systematics and Evolution ›› 2025, Vol. 63 ›› Issue (6) : 1370 -1389.
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.
admixture / disease susceptibility / genetic structure / Guizhou populations / precision medicine
2025 Institute of Botany, Chinese Academy of Sciences.
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