Qiao Xiaoyang, Shi Jianxiang, Xu Hongen, Liu Kai, Pu Youwei, Xue Xia, Zheng Wangshan, Guo Yongbo, Ma Hao, Wang Chuan-Chao, Bitsue Habtom K, Xu Xiaoyu, Wang Shanshan, Zhao Jingru, Guo Xiangqian, Hou Xinyue, Wang Xinwei, Peng Lei, Qiu Zan, Su Bing, Tang Wenxue, He Yaoxi, Guo Jiancheng, Yang Zhaohui
Tianjian Laboratory of Advanced Biomedical Sciences, Academy of Medical Science, Zhengzhou University, Zhengzhou, China.
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
Commun Biol. 2025 Feb 22;8(1):291. doi: 10.1038/s42003-025-07760-2.
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.
中原汉族是东亚典型的农业人口。研究中原汉族的基因组对于了解东亚现代人类的遗传结构和适应性至关重要。在此，我们对492名中原汉族个体进行了全基因组测序，获得了2265万个单核苷酸多态性（SNP）、426万个插入缺失（INDEL）和41959个结构变异（SV）。我们发现中原汉族具有较高水平的遗传多样性，并且糖脂代谢基因呈现出强烈的选择信号，例如LONP2、FADS2、FGF21和SLC19A2。古DNA分析表明，作物驯化推动了候选突变的出现。值得注意的是，东亚特有的结构变异，例如DEL_21699（LINC01749）和DEL_38406（FAM102A）可能与食管鳞状细胞癌和原发性闭角型青光眼的高发病率有关。我们的研究结果提供了重要的遗传资源，并表明饮食适应在东亚人群的表型进化中发挥着重要作用。
