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<p>The Central Plains Han Chinese (CPHC) is the typical agricultural population of East Asia. Investigating the genome of the CPHC is crucial to understanding the genetic structure and adaptation of the modern humans in East Asia. Here, we perform whole genome sequencing of 492 CPHC individuals and obtained 22.65 million SNPs, 4.26 million INDELs and 41,959 SVs. We found the CPHC has a higher level of genetic diversity and the glycolipid metabolic genes show strong selection signals, e.g. <i>LONP2</i>, <i>FADS2</i>, <i>FGF21</i> and <i>SLC19A2</i>. Ancient DNA analyses suggest that the domestication of crops, which drove the emergence of the candidate mutations. Notably, East Asian-specific SVs, e.g., DEL_21699 (<i>LINC01749</i>) and DEL_38406 (<i>FAM102A</i>) may be associated with the high prevalence of esophageal squamous carcinoma and primary angle-closure glaucoma. Our results provide an important genetic resource and show that dietary adaptations play an important role in phenotypic evolution in East Asian populations.</p>

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Genetic diversity and dietary adaptations of the Central Plains Han Chinese population in East Asia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月22日

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  • Xiaoyang Qiao,
  • Jianxiang Shi,
  • Hongen Xu,
  • Kai Liu,
  • Youwei Pu,
  • Xia Xue,
  • Wangshan Zheng,
  • Yongbo Guo,
  • Hao Ma,
  • Chuan-Chao Wang,
  • Habtom K. Bitsue,
  • Xiaoyu Xu,
  • Shanshan Wang,
  • Jingru Zhao,
  • Xiangqian Guo,
  • Xinyue Hou,
  • Xinwei Wang,
  • Lei Peng,
  • Zan Qiu,
  • Bing Su,
  • Wenxue Tang,
  • Yaoxi He,
  • Jiancheng Guo,
  • Zhaohui Yang

摘要

The Central Plains Han Chinese (CPHC) is the typical agricultural population of East Asia. Investigating the genome of the CPHC is crucial to understanding the genetic structure and adaptation of the modern humans in East Asia. Here, we perform whole genome sequencing of 492 CPHC individuals and obtained 22.65 million SNPs, 4.26 million INDELs and 41,959 SVs. We found the CPHC has a higher level of genetic diversity and the glycolipid metabolic genes show strong selection signals, e.g. LONP2, FADS2, FGF21 and SLC19A2. Ancient DNA analyses suggest that the domestication of crops, which drove the emergence of the candidate mutations. Notably, East Asian-specific SVs, e.g., DEL_21699 (LINC01749) and DEL_38406 (FAM102A) may be associated with the high prevalence of esophageal squamous carcinoma and primary angle-closure glaucoma. Our results provide an important genetic resource and show that dietary adaptations play an important role in phenotypic evolution in East Asian populations.