Table1_Genomic insights into the genetic structure and population history of Mongolians in Liaoning Province.XLSX

The Mongolian population exceeds six million and is the largest population among the Mongolic speakers in China. However, the genetic structure and admixture history of the Mongolians are still unclear due to the limited number of samples and lower coverage of single-nucleotide polymorphism (SNP). In this study, we genotyped genome-wide data of over 700,000 SNPs in 38 Mongolian individuals from Fuxin in Liaoning Province to explore the genetic structure and population history based on typical and advanced population genetic analysis methods [principal component analysis (PCA), admixture, FST, f3-statistics, f4-statistics, qpAdm/qpWave, qpGraph, ALDER, and TreeMix]. We found that Fuxin Mongolians had a close genetic relationship with Han people, northern Mongolians, other Mongolic speakers, and Tungusic speakers in East Asia. Also, we found that Neolithic millet farmers in the Yellow River Basin and West Liao River Basin and Neolithic hunter–gatherers in the Mongolian Plateau and Amur River Basin were the dominant ancestral sources, and there were additional gene flows related to Eurasian Steppe pastoralists and Neolithic Iranian farmers in the gene pool of Fuxin Mongolians. These results shed light on dynamic demographic history, complex population admixture, and multiple sources of genetic diversity in Fuxin Mongolians.

中国境内的蒙古族人口超过600万，是国内蒙古语族人群中规模最大的族群。然而由于样本量有限、单核苷酸多态性（single-nucleotide polymorphism, SNP）覆盖度较低，蒙古族的遗传结构与人群混合历史至今仍未明确。本研究针对来自辽宁省阜新市的38名蒙古族个体，对其全基因组范围内超过70万个SNP位点进行基因分型，并依托经典与前沿的群体遗传学分析方法——包括主成分分析（principal component analysis, PCA）、Admixture、FST、f3统计量、f4统计量、qpAdm/qpWave、qpGraph、ALDER以及TreeMix——探究其遗传结构与人群历史。研究发现，阜新蒙古族与东亚地区的汉族、北部蒙古族、其他蒙古语族人群以及通古斯语族人群具有紧密的遗传亲缘关系。同时，本研究揭示，阜新蒙古族的遗传主体源自黄河流域与西辽河流域的新石器时代粟作农业人群，以及蒙古高原与阿穆尔河流域的新石器时代狩猎采集人群；其基因库中还存在与欧亚草原游牧人群、新石器时代伊朗农业人群相关的额外基因交流信号。上述研究结果阐明了阜新蒙古族动态的人口演化历史、复杂的人群混合模式以及遗传多样性的多重来源。