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A new document in Molecular Biology and Evolution, published by Oxford University Press, shows that a condition known as Dupuytren’s disease is partly Neanderthal in origin. Researchers have long known that the disease was much more common in Northern Europeans than in those of African descent.
Dupuytrens disease is a disease that affects the hand. Those who suffer from the condition eventually see their hands bend permanently into a flexed position. While the condition can affect any finger, the ring and middle fingers are most often affected. Scientists have previously identified several risk factors for the condition, including age, alcohol consumption, diabetes and genetic predisposition. A 1999 Danish study reported 80% heritability for the condition, indicating a strong genetic influence. The condition is much more common in people of Northern European descent. One study estimated that the prevalence of Dupuytrens disease among Norwegians over the age of 60 was as high as 30%. The condition is rare, however, for those of primarily African ancestry. This apparent geographical distribution has given Dupuytren’s disease the nickname Viking disease.
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There are geographic differences in the extent of genetic ancestry that connects today’s humans to now extinct groups. People from Africa south of the Sahara have few Neanderthal or Denisovan ancestors, who lived in Europe and Asia until at least 42,000 years ago. In contrast, people with roots outside Africa inherited up to 2% of their genome from Neanderthals, and some populations in Asia today have up to 5% Denisovan ancestry. Given these regional differences, archaic genetic variants may contribute to characteristics or diseases found primarily in certain populations.
Given the prevalence of Dupuytrens disease among Europeans, researchers here investigated its genetic origins. They used data from 7,871 cases and 645,880 controls from THE UK Biobank, the FinnGen R7 collection and the Michigan Genomics Initiative to identify genetic risk variants for Dupuytrens disease. They found 61 significant genome-wide variants associated with Dupuytrens disease. Further analysis showed that three of these variants are Neanderthal in origin, including the second and third most strongly associated. The discovery that two of the most important genetic risk factors for Dupuytrens disease are Neanderthal in origin leads scientists to conclude that Neanderthal ancestry is a significant factor in explaining the prevalence of the disease in Europe today.
This is one case of encounters with Neanderthals affecting disease sufferers, said the paper’s lead author, Hugo Zeberg, although we shouldn’t exaggerate the connection between Neanderthals and Vikings.
Reference: gren R, Patil S, Zhou X, et al. The main genetic risk factors for Dupuytrens disease are inherited from Neanderthals. Mol Bio Evol. 2023. doi: 10.1093/molbev/msad130
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