Differentiated adaptative genetic architecture and language-related demographical history in South China inferred from 619 genomes from 56 populations

作者全名："Sun, Qiuxia; Wang, Mengge; Lu, Tao; Duan, Shuhan; Liu, Yan; Chen, Jing; Wang, Zhiyong; Sun, Yuntao; Li, Xiangping; Wang, Shaomei; Lu, Liuyi; Hu, Liping; Yun, Libing; Yang, Junbao; Yan, Jiangwei; Nie, Shengjie; Zhu, Yanfeng; Chen, Gang; Wang, Chuan-Chao; Liu, Chao; He, Guanglin; Tang, Renkuan"

作者地址："[Sun, Qiuxia; Lu, Tao; Tang, Renkuan] Chongqing Med Univ, Coll Basic Med, Dept Forens Med, Chongqing 400331, Peoples R China; [Sun, Qiuxia; Wang, Mengge; Duan, Shuhan; Liu, Yan; Chen, Jing; Wang, Zhiyong; Sun, Yuntao; Li, Xiangping; Wang, Shaomei; Lu, Liuyi; He, Guanglin] Sichuan Univ, West China Hosp, Inst Rare Dis, Chengdu 610000, Peoples R China; [Duan, Shuhan; Liu, Yan] North Sichuan Med Coll, Sch Basic Med Sci, Nanchong 637100, Peoples R China; [Lu, Liuyi; Yang, Junbao] North Sichuan Med Coll, Sch Clin Med Sci, Nanchong 637100, Peoples R China; [Chen, Jing; Yan, Jiangwei] Shanxi Med Univ, Sch Forens Med, Jinzhong 030001, Peoples R China; [Wang, Zhiyong; Li, Xiangping; Hu, Liping; Nie, Shengjie] Kunming Med Univ, Sch Forens Med, Kunming 650500, Peoples R China; [Sun, Yuntao; Yun, Libing] Sichuan Univ, West China Sch Basic Sci & Forens Med, Chengdu 610041, Peoples R China; [Wang, Shaomei; Zhu, Yanfeng] Chengdu Med Coll, Dept Publ Hlth, Chengdu 610500, Peoples R China; [Liu, Chao] Sun Yat Sen Univ, Fac Forens Med, Zhongshan Sch Med, Guangzhou 510275, Peoples R China; [Liu, Chao] Guangzhou Forens Sci Inst, Guangzhou 510055, Peoples R China; [Liu, Chao] Antidrug Technol Ctr Guangdong Prov, Guangzhou 510230, Peoples R China; [Chen, Gang] Cent South Univ, Sch Comp Sci & Engn, Hunan Key Lab Bioinformat, Changsha 410075, Peoples R China; [Wang, Chuan-Chao] Xiamen Univ, Natl Inst Data Sci Hlth & Med, Sch Life Sci, State Key Lab Cellular Stress Biol, Xiamen 361005, Fujian, Peoples R China; [Wang, Mengge; He, Guanglin] Sichuan Univ, Ctr Archaeol Sci, Chengdu 610000, Peoples R China"

通信作者："Tang, RK (通讯作者)，Chongqing Med Univ, Coll Basic Med, Dept Forens Med, Chongqing 400331, Peoples R China.; Wang, MG; He, GL (通讯作者)，Sichuan Univ, West China Hosp, Inst Rare Dis, Chengdu 610000, Peoples R China.; Wang, MG; He, GL (通讯作者)，Sichuan Univ, Ctr Archaeol Sci, Chengdu 610000, Peoples R China."

来源：BMC BIOLOGY

ESI学科分类：BIOLOGY & BIOCHEMISTRY

WOS号：WOS:001179809900002

JCR分区：Q1

影响因子：4.4

年份：2024

卷号：22

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Demographical history; Biological adaptation; Genetic structure; Genomic diversity; Han Chinese

摘要："BackgroundThe underrepresentation of human genomic resources from Southern Chinese populations limited their health equality in the precision medicine era and complete understanding of their genetic formation, admixture, and adaptive features. Besides, linguistical and genetic evidence supported the controversial hypothesis of their origin processes. One hotspot case was from the Chinese Guangxi Pinghua Han people (GPH), whose language was significantly similar to Southern Chinese dialects but whose uniparental gene pool was phylogenetically associated with the indigenous Tai-Kadai (TK) people. Here, we analyzed genome-wide SNP data in 619 people from four language families and 56 geographically different populations, in which 261 people from 21 geographically distinct populations were first reported here.ResultsWe identified significant population stratification among ethnolinguistically diverse Guangxi populations, suggesting their differentiated genetic origin and admixture processes. GPH shared more alleles related to Zhuang than Southern Han Chinese but received more northern ancestry relative to Zhuang. Admixture models and estimates of genetic distances showed that GPH had a close genetic relationship with geographically close TK compared to Northern Han Chinese, supporting their admixture origin hypothesis. Further admixture time and demographic history reconstruction supported GPH was formed via admixture between Northern Han Chinese and Southern TK people. We identified robust signatures associated with lipid metabolisms, such as fatty acid desaturases (FADS) and medically relevant loci associated with Mendelian disorder (GJB2) and complex diseases. We also explored the shared and unique selection signatures of ethnically different but linguistically related Guangxi lineages and found some shared signals related to immune and malaria resistance.ConclusionsOur genetic analysis illuminated the language-related fine-scale genetic structure and provided robust genetic evidence to support the admixture hypothesis that can explain the pattern of observed genetic diversity and formation of GPH. This work presented one comprehensive analysis focused on the population history and demographical adaptative process, which provided genetic evidence for personal health management and disease risk prediction models from Guangxi people. Further large-scale whole-genome sequencing projects would provide the entire landscape of southern Chinese genomic diversity and their contributions to human health and disease traits."

基金机构："National Natural Science Foundation of China [82202078]; Major Project of the National Social Science Foundation of China [23ZD203]; Open project of the Key Laboratory of Forensic Genetics of the Ministry of Public Security [2022FGKFKT05]; Center for Archaeological Science of Sichuan University [23SASA01]; The 1. 3. 5 Project for Disciplines of Excellence, West China Hospital, Sichuan University [ZYJC20002]; Sichuan Science and Technology Program"

基金资助正文："This study was supported by the National Natural Science Foundation of China (82202078) and 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 Sichuan Science and Technology Program. We thank Prof. Etienne Patin and Prof. Lluis Quintana-Murci from the Human Evolutionary Genetics Unit of Institut Pasteur for sharing the high-coverage genomes of 317 individuals from the Pacific region. We also thank all the volunteers participated in this project."