Paleogenetic study on the 17th century Korean mummy with atherosclerotic cardiovascular disease

PLoS One. 2017 Aug 16;12(8):e0183098. doi: 10.1371/journal.pone.0183098. eCollection 2017.

Abstract

While atherosclerotic cardiovascular disease (ASCVD) is known to be common among modern people exposed to various risk factors, recent paleopathological studies have shown that it affected ancient populations much more frequently than expected. In 2010, we investigated a 17th century Korean female mummy with presumptive ASCVD signs. Although the resulting report was a rare and invaluable conjecture on the disease status of an ancient East Asian population, the diagnosis had been based only on anatomical and radiological techniques, and so could not confirm the existence of ASCVD in the mummy. In the present study, we thus performed a paleogenetic analysis to supplement the previous conventional diagnosis of ASCVD. In aDNA extracted from the same Korean mummy, we identified the risk alleles of seven different SNPs (rs5351, rs10757274, rs2383206, rs2383207, rs10757278, rs4380028 and rs1333049) that had already been revealed to be the major risk loci of ASCVD in East Asian populations. The reliability of this study could be enhanced by cross-validation using two different analyses: Sanger and SNaPshot techniques. We were able to establish that the 17th century Korean female had a strong genetic predisposition to increased risk of ASCVD. The current paleogenetic diagnosis, the first of its kind outside Europe, re-confirms its utility as an adjunct modality for confirmatory diagnosis of ancient ASCVD.

Publication types

  • Historical Article

MeSH terms

  • Atherosclerosis / genetics*
  • Cardiovascular Diseases / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • History, 17th Century
  • Humans
  • Mummies*
  • Polymorphism, Single Nucleotide
  • Republic of Korea

Grants and funding

This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2013R1A1A2009688) and by the Seoul National University Hospital (SNUH) research fund (04-2016-0390). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.