A new study published in Molecular Biology and Evolution has found that Dupuytren’s disease, a hand disorder common among Northern Europeans, has genetic links to Neanderthals. Researchers have identified three of the 61 genetic risk variants for the disease that are of Neanderthal origin, highlighting the influence of ancient ancestry on modern health issues.
Dupuytren’s disease is a disorder that affects the hand, causing the fingers to become permanently bent in a flexed position. While the condition can affect any finger, the ring and middle fingers are most often affected. Previous research has identified several risk factors for the disease, including age, alcohol consumption, diabetes, and genetic predisposition. A Danish study from 1999 reported that the condition has an 80% heritability rate, indicating a strong genetic influence. The disease is much more prevalent among people of Northern European ancestry, with estimates suggesting a prevalence of up to 30% among Norwegians over the age of 60. However, the condition is rare among individuals of primarily African descent, leading to its colloquial nickname, “Viking disease.”
The study examined the genetic origins of Dupuytren’s disease, given its prevalence among Europeans. Researchers analyzed 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 the disease. They identified 61 genome-wide significant variants associated with Dupuytren’s disease, three of which were of Neanderthal origin, including the second and third most strongly associated variants. This finding suggests that Neanderthal ancestry plays a significant role in explaining the prevalence of the disease in Europe today.
Lead author of the study, Hugo Zeberg, stated, “This is a case where the meeting with Neanderthals has affected who suffers from illness, although we should not exaggerate the connection between Neanderthals and Vikings.”
The study highlights the impact of ancient ancestry on modern health issues and provides further insight into the genetic factors contributing to Dupuytren’s disease. Understanding the genetic origins of the disease can aid in the development of targeted treatments and interventions for those affected by this debilitating condition.
For more information on this research, refer to the article “Unraveling the Genetic Threads of ‘Viking Disease’.”
Reference:
“Major Genetic Risk Factors for Dupuytren’s Disease Are Inherited From Neanderthals” 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
How does the prevalence of Dupuytren’s disease in individuals of Northern European ancestry correlate with the presence of Neanderthal genetic risk variants?
Se primarily affects individuals of Northern European ancestry, with prevalence rates as high as 30% in some populations.
In this latest study, researchers conducted a genome-wide association study (GWAS) to investigate the genetic basis of Dupuytren’s disease. They analyzed genetic data from over 8,000 individuals with the disease and compared it to data from a control group of over 40,000 individuals without the condition.
The analysis revealed three specific genetic risk variants that are significantly associated with Dupuytren’s disease and are of Neanderthal origin. Neanderthals are our closest extinct relatives, and it is estimated that modern humans of non-African descent carry approximately 2% of their genetic material.
The presence of these Neanderthal genetic risk variants suggests that our ancient ancestors passed down these predispositions to hand disorders. This finding highlights the impact of ancient ancestry on modern health issues, particularly for individuals of Northern European descent.
The researchers also found that these Neanderthal variants were more prevalent in individuals with severe forms of Dupuytren’s disease. This suggests that these specific genetic variants may contribute to disease severity and progression.
Understanding the genetic basis of Dupuytren’s disease is crucial for developing targeted treatments and interventions. The identification of these specific risk variants opens up new avenues for research and may lead to the development of personalized therapies in the future.
Moreover, this study adds to the growing body of evidence highlighting the genetic legacy of Neanderthals in modern humans. Previous research has implicated Neanderthal DNA in various health conditions, including skin disorders, depression, and blood clotting disorders.
Despite their extinction over 40,000 years ago, Neanderthals have left a lasting mark on our genetic makeup. The interbreeding between our ancestors and Neanderthals has contributed to both our genetic diversity and our susceptibility to certain diseases.
As genetic research continues to uncover these ancient genetic links, it underscores the importance of interdisciplinary studies to shed light on human evolution and its impact on health. By unraveling our genetic history, scientists can gain insights into the origins of diseases and develop more effective strategies for prevention and treatment.
This fascinating study connecting Neanderthal ancestry to Dupuytren’s Disease sheds light on the genetic origins of this condition. Understanding these connections could potentially lead to advancements in diagnosis and treatment for affected individuals.