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<p>Genomic resources from Tibeto-Burman (TB)-speaking populations are underrepresented in human genome research, limiting the understanding of their evolutionary history and health-related genetic influences. We genotyped 95 individuals, including Baima and Amdo Tibetans from Jiuzhaigou on the eastern Qinghai–Xizang Plateau and Qiang from Mianyang Prefecture in Sichuan Province. These data were jointly analyzed with 1722 genomes from modern and ancient East Asian populations. Clustering patterns revealed by principal component analysis suggested that the Tibetan and Qiang populations formed three distinct genetic clines, which were supported by model-based ADMIXTURE and fineSTRUCTURE analyses, highlighting complex population histories and unique genetic clusters among the Qiang and Tibetan people. Shared genetic drift estimated via <i>f</i><sub>3</sub>/<i>f</i><sub><i>4</i></sub>-statistics revealed significant gene flow between the Qiang and Han groups, suggesting that interactions with geographically proximate Han populations likely drove genomic affinity. Comparisons among TB groups (Amdo, Baima, Ü-Tsang, and Qiang) revealed varying levels of genetic affinity with ancient populations, particularly those from the Qinghai-Xizang Plateau and Yellow River Basin. Identity-by-descent and runs of homozygosity analyses indicated the persistence of stable population structures over approximately 2700 years and revealed relative demographic similarities among culturally different Tibetan groups, characterized by smaller effective population sizes than Han groups. Twenty-five high-confidence regions under selection were identified in Tibetans through XP-EHH, PBS, and Fisher score statistics, whereas 28 regions were detected in Qiangs, most of which were first identified here. The Tibetan-specific selection signals included genes related to hypoxia adaptation (e.g., <i>TNNI3K</i>), whereas the Qiang populations presented selection related to skin pigmentation (e.g., <i>SLC44A5</i>) and alcohol metabolism. The results of functional enrichment analyses suggested that the shared and distinct adaptations among these populations involved cardiovascular, metabolic, and immune processes. Overall, our findings reveal the complex genetic structure, population history, and evolutionary adaptations of Tibetan and Qiang populations in northern Sichuan. The results emphasize the role of geographic and historical factors in shaping genetic diversity and adaptive traits, contributing to our understanding of human adaptation to high-altitude environments and UV radiation in East Asia.</p> Graphical abstract <p></p>

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Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people

  • 期刊论文

  • 发表日期：

    2025年10月15日

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  • Qiuxia Sun,
  • Yuhang Feng,
  • Zhiyong Wang,
  • Yuntao Sun,
  • Lintao Luo,
  • Jing Cheng,
  • Fengxiao Bu,
  • Yu Lu,
  • Yan Liu,
  • Chao Liu,
  • Huijun Yuan,
  • Renkuan Tang,
  • Mengge Wang,
  • Guanglin He

摘要

Genomic resources from Tibeto-Burman (TB)-speaking populations are underrepresented in human genome research, limiting the understanding of their evolutionary history and health-related genetic influences. We genotyped 95 individuals, including Baima and Amdo Tibetans from Jiuzhaigou on the eastern Qinghai–Xizang Plateau and Qiang from Mianyang Prefecture in Sichuan Province. These data were jointly analyzed with 1722 genomes from modern and ancient East Asian populations. Clustering patterns revealed by principal component analysis suggested that the Tibetan and Qiang populations formed three distinct genetic clines, which were supported by model-based ADMIXTURE and fineSTRUCTURE analyses, highlighting complex population histories and unique genetic clusters among the Qiang and Tibetan people. Shared genetic drift estimated via f3/f4-statistics revealed significant gene flow between the Qiang and Han groups, suggesting that interactions with geographically proximate Han populations likely drove genomic affinity. Comparisons among TB groups (Amdo, Baima, Ü-Tsang, and Qiang) revealed varying levels of genetic affinity with ancient populations, particularly those from the Qinghai-Xizang Plateau and Yellow River Basin. Identity-by-descent and runs of homozygosity analyses indicated the persistence of stable population structures over approximately 2700 years and revealed relative demographic similarities among culturally different Tibetan groups, characterized by smaller effective population sizes than Han groups. Twenty-five high-confidence regions under selection were identified in Tibetans through XP-EHH, PBS, and Fisher score statistics, whereas 28 regions were detected in Qiangs, most of which were first identified here. The Tibetan-specific selection signals included genes related to hypoxia adaptation (e.g., TNNI3K), whereas the Qiang populations presented selection related to skin pigmentation (e.g., SLC44A5) and alcohol metabolism. The results of functional enrichment analyses suggested that the shared and distinct adaptations among these populations involved cardiovascular, metabolic, and immune processes. Overall, our findings reveal the complex genetic structure, population history, and evolutionary adaptations of Tibetan and Qiang populations in northern Sichuan. The results emphasize the role of geographic and historical factors in shaping genetic diversity and adaptive traits, contributing to our understanding of human adaptation to high-altitude environments and UV radiation in East Asia.

Graphical abstract