Anatomy and Cell Biology

Korean Association of Anatomists (대한해부학회)
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Revealing Joseon period People's single nucleotide polymorphism associated with lactase gene by ancient DNA analysis of human remains from archaeological sites in Korea

  • Chang Seok Oh (Department of Mortuary Science, College of Bio-Convergence, Eulji University) ;
  • Myeung Ju Kim (Department of Anatomy, Dankook University College of Medicine) ;
  • Yi-Suk Kim (Catholic Institute for Applied Anatomy, Department of Anatomy, Colllege of Medicine, The Catholic University of Korea) ;
  • Sori Min (Nuri Institute of Archaeology) ;
  • Kyong Taek Oh (Sudo Institute of Cultural Heritage) ;
  • Soong Deok Lee (Department of Forensic Medicine, Seoul National University College of Medicine) ;
  • Dong Hoon Shin (Institute of Forensic and Anthropological Science, Seoul National University College of Medicine)
  • Received : 2022.09.11
  • Accepted : 2022.11.10
  • Published : 2023.03.31
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Abstract

Lactase non-persistence (LNP), one of the causes of lactose intolerance, is related to lactase gene associated single nucleotide polymorphisms (SNPs). Since the frequency of LNP varies by ethnic group and country, the research to reveal the presence or absence of LNP for specific people has been conducted worldwide. However, in East Asia, the study of lactase gene associated SNPs have not been sufficiently examined so far using ancient human specimens from archaeological sites. In our study of Joseon period human remains (n=14), we successfully revealed genetic information of lactase gene associated SNPs (rs1679771596, rs41525747, rs4988236, rs4988235, rs41380347, rs869051967, rs145946881 and rs182549), further confirming that as for eight SNPs, the pre-modern Korean people had a lactase non-persistent genotype. Our report contributes to the establishment of LNP associated SNP analysis technique that can be useful in forthcoming studies on human bones and mummy samples from East Asian archaeological sites.

Keywords

Acknowledgement

This study was supported by grant number 04-2020-0290 from the SNUH research fund and by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. 2022R1C1C1013540).

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