Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans

Ben Krause-Kyora*, Marcel Nutsua, Lisa Boehme, Federica Pierini, Dorthe Dangvard Pedersen, Sabin Christin Kornell, Dmitriy Drichel, Marion Bonazzi, Lena Möbus, Peter Tarp, Julian Susat, Esther Bosse, Beatrix Willburger, Alexander H. Schmidt, Jürgen Sauter, Andre Franke, Michael Wittig, Amke Caliebe, Michael Nothnagel, Stefan SchreiberJesper L. Boldsen, Tobias L. Lenz, Almut Nebel

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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Leprosy, a chronic infectious disease caused by Mycobacterium leprae (M. leprae), was very common in Europe till the 16th century. Here, we perform an ancient DNA study on medieval skeletons from Denmark that show lesions specific for lepromatous leprosy (LL). First, we test the remains for M. leprae DNA to confirm the infection status of the individuals and to assess the bacterial diversity. We assemble 10 complete M. leprae genomes that all differ from each other. Second, we evaluate whether the human leukocyte antigen allele DRB1∗15:01, a strong LL susceptibility factor in modern populations, also predisposed medieval Europeans to the disease. The comparison of genotype data from 69 M. leprae DNA-positive LL cases with those from contemporary and medieval controls reveals a statistically significant association in both instances. In addition, we observe that DRB1∗15:01 co-occurs with DQB1∗06:02 on a haplotype that is a strong risk factor for inflammatory diseases today.

Original languageEnglish
Article number1569
JournalNature Communications
Number of pages11
Publication statusPublished - 1. May 2018


  • DNA, Ancient
  • DNA, Bacterial/genetics
  • Denmark
  • European Continental Ancestry Group/genetics
  • Fossils
  • Genetic Predisposition to Disease
  • Genome, Bacterial
  • HLA-DQ beta-Chains/genetics
  • HLA-DRB1 Chains/genetics
  • High-Throughput Screening Assays
  • Humans
  • Leprosy/genetics
  • Mycobacterium leprae/genetics


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