Research led by scientists at the Universities of Oxford, Cambridge, Copenhagen, Bristol and California (Berkeley) reveals the evolutionary origins of multiple sclerosis (MS). This new insight into the genetic architecture of this disease changes scientists’ view of its causes and has implications for its treatment, as well as paving the way for further investigations into other diseases.
Affecting 1 in 1,000 people, multiple sclerosis (MS) is an autoimmune disease in which the body’s immune system attacks its own brain and spinal cord. Northern Europe has the highest prevalence of MS in the world.
The new research published in Nature draws on analysis of the DNA of ancient human bones and teeth held in museum collections across Europe and Western Asia. It reveals that a major migration of pastoralist herders known as the Yamnaya people from from the Pontic Steppe (a region spanning parts of what are now Ukraine, South-West Russia and the West Kazakhstan) into Western Europe 5,000 years ago introduced genetic variants into the population.
The study, co-led by Professors Lars Fugger (MRC Translational Immune Discovery Unit and Nuffield Department of Clinical Neurosciences (NDCN)) and Astrid Iversen (MRC WIMM and NDCN), has demonstrated that many of the genetic risk variants for autoimmune diseases, specifically multiple sclerosis (MS), have evolved under strong selection pressures, likely due to lifestyle-specific environmental pathogens.
Read the full story on the NDCN website here.
Read the full paper and three complementary studies (published in the same issue in Nature) here:
1. Barrie, W. et al.: ‘Elevated Genetic Risk for Multiple Sclerosis Originated in Steppe Pastoralist Populations.’ Nature, 2024. https://www.nature.com/articles/s41586-023-06618-z
2. Irving-Pease, E.K. et al. ‘The Selection Landscape and Genetic Legacy of Ancient Eurasians’ Nature, 2024. https://www.nature.com/articles/s41586-023-06705-1
3. Allentoft, M.E. et al. ‘Population Genomics of Postglacial Western Eurasia’ Nature, 2024. https://www.nature.com/articles/s41586-023-06865-0
4. Allentoft, M.E. et al. ’100 Ancient Genomes Show Repeated Population Turnovers in Neolithic Age Denmark’ Nature, 2024. https://www.nature.com/articles/s41586-023-06862-3