Summary
This study uses ancient genomic data to trace the origins and evolutionary history of multiple sclerosis genetic risk variants, demonstrating that MS-associated immunogenetic variants emerged and underwent positive selection among Pontic steppe pastoralists approximately 5,000 years ago before being introduced into Europe via Yamnaya-related migrations. The positive selection of these variants appears to have been driven by pathogenic pressures coinciding with lifestyle, dietary, and population density changes during the Neolithic and Bronze Age. The findings underscore how prehistoric transitions in subsistence systems and living conditions shaped immune gene architecture with consequences for modern disease prevalence.
UK applicability
The elevated prevalence of MS in Northern Europe is partly explained by these ancient genetic events and selection pressures. Understanding this genomic heritage may inform interpretation of MS epidemiology in the UK and related populations, though the mechanisms linking ancestral selection pressures to modern disease risk in contemporary environments warrant further investigation.
Key measures
Frequency and selection signatures of MS-associated immunogenetic variants across temporal periods (Mesolithic to post-Medieval) and populations (Pontic steppe, Yamnaya-related migrations, European populations)
Outcomes reported
The study identified the temporal and geographical origins of MS-associated genetic variants through analysis of ancient genomes spanning the Mesolithic to Bronze Age, and demonstrated positive selection of these variants in steppe pastoralist populations and subsequent European populations.
Topic tags
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