Unveiling the Genetic Origins of “Viking Disease”: Exploring the Neanderthal Connection

A condition known as Dupuytren’s disease, colloquially referred to as “Viking disease,” which causes a finger to be locked in a bent position, has been found to have genetic ties to Neanderthals. In a recent study published in Molecular Biology and Evolution, researchers discovered that three out of the 61 genetic risk variants associated with the disease have Neanderthal origins. This sheds light on the impact of ancient ancestry on contemporary health issues.

The research, conducted by Oxford University Press and published in Molecular Biology and Evolution, reveals that Dupuytren’s disease has a partial origin from Neanderthals. Scientists have long observed a higher prevalence of the condition among individuals of Northern European descent compared to those of African ancestry.

Dupuytren’s disease affects the hand, causing a permanent flexed position of the fingers over time. While any finger can be affected, the ring and middle fingers are commonly afflicted. Previous studies have identified various risk factors for the condition, including age, alcohol consumption, diabetes, and genetic predisposition. In fact, a Danish study in 1999 reported an 80% heritability rate, indicating a strong genetic influence. The disease is significantly more prevalent among people of Northern European descent, with estimates suggesting a prevalence of up to 30% among Norwegians over the age of 60. Conversely, individuals primarily of African descent have a notably lower occurrence of the condition. This geographical distribution has led to the nickname “Viking disease” for Dupuytren’s disease.

Differences in genetic ancestry exist among present-day humans, with some groups having genetic links to now-extinct populations. People from Africa south of the Sahara have minimal genetic ancestry from Neanderthals or Denisovans, who inhabited Europe and Asia until at least 42,000 years ago. On the other hand, individuals with non-African roots can possess up to 2% of their genome inherited from Neanderthals, while certain Asian populations exhibit up to 5% Denisovan ancestry. Due to these regional disparities, archaic gene variants can contribute to specific characteristics or diseases found predominantly in certain populations.

Given the higher prevalence of Dupuytren’s disease among Europeans, researchers aimed to investigate its genetic origins. They analyzed data from the UK Biobank, the FinnGen R7 collection, and the Michigan Genomics Initiative, including 7,871 cases and 645,880 controls, to identify genetic risk variants associated with Dupuytren’s disease. Their investigation revealed 61 genome-wide significant variants linked to the condition. Further analysis disclosed that three of these variants have Neanderthal origins, with two of them being the most strongly associated. Consequently, the identification of two crucial genetic risk factors for Dupuytren’s disease originating from Neanderthals led the scientists to conclude that Neanderthal ancestry plays a significant role in explaining the disease’s prevalence in Europe today.

Lead author of the paper, Hugo Zeberg, commented, “This demonstrates how our encounter with Neanderthals has influenced the occurrence of this illness. However, it is important not to overstate the connection between Neanderthals and Vikings.”

For more information regarding this research, please refer to “Unraveling the Genetic Threads of ‘Viking Disease.'”

Reference: “Major Genetic Risk Factors for Dupuytren’s Disease Are Inherited From Neandertals” by Richard Ågren, Snehal Patil, Xiang Zhou, FinnGen, Kristoffer Sahlholm, Svante Pääbo, and Hugo Zeberg, 14 June 2023, Molecular Biology and Evolution.
DOI: 10.1093/molbev/msad130

Frequently Asked Questions (FAQs) about Genetic origins

More about Genetic origins

• Molecular Biology and Evolution: Unraveling the Genetic Threads of “Viking Disease”
• Oxford University Press: Major Genetic Risk Factors for Dupuytren’s Disease Are Inherited From Neandertals