Dupuytren’s disease, a common hand disorder in Northern Europeans, has been found to be genetically related to Neanderthals, according to a new study. Molecular biology and evolution. Three of the 61 genetic risk variants of the disease identified by the researchers are of Neanderthal origin, highlighting the influence of ancient ancestry on modern health problems.
I got a new paper molecular biology and evolution, A paper published by Oxford University Press shows that part of the condition known as Dupuytren’s disease is of Neanderthal origin. Researchers have long known that the disease is much more common in northern Europeans than in people of African descent.
Dupuytren’s disease is a disease that affects the hands. People who suffer from this condition eventually end up with a permanently crooked hand. The condition can affect any finger, but the ring and middle fingers are most often affected. Scientists have so far identified several risk factors for the condition, including age, alcohol consumption, diabetes, and genetic predisposition. A 1999 Danish study reported a heritability of 80% for this condition, indicating a strong genetic influence. This condition is common in people of Nordic descent. One study estimates the prevalence of Dupuytren’s disease among Norwegians to be as high as 30% over a 60-year period. However, the condition is rare, mostly for people of African descent. This distinct geographic distribution has earned Dupuytren’s disease the nickname ‘Viking’s disease’.
There are geographic differences in the range of genetic ancestry linking modern humans and extinct populations. People from sub-Saharan Africa have little ancestry from Neanderthals and Denisovans, who lived in Europe and Asia until at least 42,000 years ago. In contrast, people with roots outside of Africa inherited 2% of their genome from Neanderthals, and some populations in Asia today have up to 5% Denisovan ancestry. Given these regional differences, it is likely that archaic genetic variations contribute primarily to traits and diseases found in specific populations.
Given the prevalence of Dupuytren’s disease among Europeans, researchers investigated its genetic origins here. They used data from his 7,871 cases and his 645,880 controls from the UK Biobank, the FinGen R7 Collection, and the Michigan Genomics Initiative to identify genetic risk variants for Dupuytren’s disease. bottom. They found 61 genome-wide significant mutations associated with Dupuytren’s disease. Further analysis showed that three of these variants were of Neanderthal origin, including the one most strongly related to the second and her third. The discovery that two of the most important genetic risk factors for Dupuytren’s disease are of Neanderthal origin has led scientists to believe that Neanderthal ancestry is an important factor in explaining the prevalence of the disease in Europe today. concluded.
“This is an example of how encounters with Neanderthals affected people suffering from disease,” said Hugo Seberg, lead author of the paper. “However, the relationship between Neanderthals and Vikings should not be overstated.”
For more information about this study, see Unraveling the genetic thread of ‘Viking disease’.
Reference: “Major genetic risk factors for Dupuytren’s disease are inherited from Neanderthals,” Richard Ågren, Snehal Patil, Xiang Zhou, FinnGen, Kristoffer Sahlholm, Svante Pääbo, Hugo Zeberg, June 14, 2023 , Molecular biology and evolution.
DOI: 10.1093/molbev/msad130