Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations  

作　　者：Guanglin He Hongbing Yao Shuhan Duan Lintao Luo Qiuxia Sun Renkuan Tang jing Chen Zhiyong Wang Yuntao Sun Xiangping Li Liping Hu Libing Yun Junbao Yang Jiangwei Yan Shengjie Nie Yanfeng Zhu K_CPGDP Consortium,Chuan-Chao Wang Bing Liu Lan Hu Chao Liu Mengge Wang 

机构地区：[1]Institute of Rare Diseases,West China Hospital of Sichuan University,Sichuan University,Chengdu 610000,China [2]Center for Archaeological Science,Sichuan University,Chengdu 610000,China [3]Anti-Drug Technology Center of Guangdong Province,Guangzhou 510220,China [4]Belt and Road Research CenterforForensic Molecular Anthropology,Gansu University of Political Scienceand Law,Lanzhou73000,China [5]School of Basic Medicine and Forensic Medicine,North Sichuan Medical College,Nanchong 637007,China [6]Center for Genetics and Prenatal Diagnosis,Afliated Hospital of North Sichuan Medical College,Nanchong 637007,China [7]institution of Genome Medicine,Affiliated Hospital of North Sichuan Medical College,Nanchong 637007,China [8]Department of Forensic Medicine,College of Basic Medicine,Chongqing Medical University,Chongqing 400331,China [9]School of Forensic Medicine,Shanxi Medical University,Jinzhong 030001,China [10]School of Forensic Medicine,Kunming Medical University,Kunming 650500,China [11]West China School of Basic Science&Forensic Medicine,Sichuan University,Chengdu 610041,China [12]Department of Public Health,Chengdu Medical College,Chengdu 610500,China [13]tate Key Laboratory of Cellular Stress Biology,Schol of Life Sciences,Xiamen University,Xiamen 361005,China [14]Institute of Forensic Science,Ministry of Public Security,Bejing 100038,China

出　　处：《Science China(Life Sciences)》2025年第4期914-933,共20页中国科学(生命科学英文版)

基　　金：supported by the National Natural Science Foundation of China(82402203,82202078);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(2022FGKFKT05,2024FGKFKT02);the Center for Archaeological Science of Sichuan University(23SASA01);the 1·3·5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(ZYJC20002);the Sichuan Science and Technology Program(2024NSFSC1518)。

摘　　要：Genomic sources from China are underrepresented in the population-specific reference database.We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups(1,081 Sinitic,56 Mongolic,40 Turkic,and 30Tibeto-Burman people)living in North China included in the 10K Chinese People Genomic Diversity Project(10K_CPGDP)to characterize the genetic architecture and adaptative history of ethnic groups in the Silk Road Region of China.We observed a population split between Northwest Chinese minorities(NWCMs)and Han Chinese since the Upper Paleolithic and later Neolithic genetic differentiation within NWCMs.The observed population substructures among ethnically/linguistically diverse NWCMs suggested that differentiated admixture events contributed to the differences in their genomic and phenotypic diversity.We estimated that the Dongxiang,Tibetan,and Yugur people inherited more than 10%of the Western Eurasian ancestry,which is much greater than that of the Salar and Tu people(<7%),while Han neighbors showed less West Eurasian ancestry(~1%-3%).Male-biased admixture introduced Western Eurasian ancestry in the Dongxiang,Tibetan,and Yugur populations.We found that the eastern-western admixture in NWCMs occurred~800-1,100 years ago,coinciding with intensive economic and cultural exchanges during the Tang and Song dynasties.Additionally,we identified the signatures of natural selection associated with cardiovascular system diseases or lipid metabolism and developmental/neurogenetic disorders.Moreover,the EPAS1 gene showed relatively high population branch statistic values in NWCMs.The well-fitted demographical models presented the vast landscape of complex admixture processes of the Silk Road people,and the newly reported functionally important variations suggested the importance of including ethnolinguistically diverse populations in Chinese genetic studies for uncovering the genetic basis of complex traits/diseases.

关 键 词：10K Chinese People Genomic Diversity Project Silk Road people admixture landscape demographic history biological adaptation 

分 类 号：Q987[生物学—遗传学]