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

Open access Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans, by Krause-Kyora et al., Nature Communications (2018)

Abstract:

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.

danes-leprosy-positive
Relationship of 53 medieval leprosy-positive Danes to contemporary Europeans. Principal component analysis plot for 53 medieval St. Jørgen individuals in relation to European population samples from the 1000 Genomes project. (CEU, Northern Europeans from Utah; GBR, British in England and Scotland; IBS, Iberian population in Spain; TSI, Tuscans in Italy; FIN, Finnish in Finland)

The study shows mtDNA haplogroups comparable to those of northern Europeans today, and findings in general indicate no major genome-wide changes in the Danish population structure in the past 1000 years.

The paper may be of interest for earlier migrations:

rs3135388-t-allele-frequency-leprosy

Discovered via Iain Mathieson:

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