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Genetic Diversity and Dietary Adaptations of the Central Plains Han Chinese Population in East Asia

Abstract

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.

References
1.
Kurogi K, Shimohira T, Kouriki-Nagatomo H, Zhang G, Miller E, Sakakibara Y . Human Cytosolic Sulphotransferase SULT1C3: genomic analysis and functional characterization of splice variant SULT1C3a and SULT1C3d. J Biochem. 2017; 162(6):403-414. PMC: 5892403. DOI: 10.1093/jb/mvx044. View

2.
Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J . The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. Cell Res. 2020; 30(9):717-731. PMC: 7609296. DOI: 10.1038/s41422-020-0322-9. View

3.
Tao L, Yuan H, Zhu K, Liu X, Guo J, Min R . Ancient genomes reveal millet farming-related demic diffusion from the Yellow River into southwest China. Curr Biol. 2023; 33(22):4995-5002.e7. DOI: 10.1016/j.cub.2023.09.055. View

4.
Su B, Xiao J, Underhill P, Deka R, Zhang W, Akey J . Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet. 1999; 65(6):1718-24. PMC: 1288383. DOI: 10.1086/302680. View

5.
Kumar S, Stecher G, Li M, Knyaz C, Tamura K . MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Mol Biol Evol. 2018; 35(6):1547-1549. PMC: 5967553. DOI: 10.1093/molbev/msy096. View