Researchers have identified the genetic causes of Raynaud’s phenomenon.
- Raynaud’s phenomenon (RA) is an inherited disease that affects blood circulation.
- Raynaud’s phenomenon (RP) can cause significant pain and ulcers.
- Researchers have discovered variations in two genes, ADRA2A and IRX1, that predispose people to Raynaud’s phenomenon.
Researchers from the Precision Healthcare University Research Institute and the Berlin Institute of Health have identified the genetic causes of Raynaud’s phenomenon, which could help develop new treatments to treat this disease.
What is Raynaud’s phenomenon?
Raynaud’s phenomenon (RA) is an inherited disease that affects blood circulation. It is a vasospastic condition, meaning that small blood vessels near the surface of the skin spasm which can restrict blood flow. People with Raynaud’s disease often experience pain in their fingers and toes, usually accompanied by changes in skin color due to a lack of blood circulation during times of cold or stress. In the most serious cases, this pathology can cause intense pain or ulcers.
Approximately 2 to 5% of the population is affected by this disease. Despite its frequency, it remains little studied and current treatments are limited or generate significant side effects.
Two genes involved in Raynaud’s phenomenon
To find other solutions, the researchers used electronic health records from the UK Biobank, a biomedical database containing the genetic information of half a million Britons, as well as electronic health records from the Genes & Health of Queen Mary. 5,000 people with Raynaud’s disease were included in their study.
After analyzing the data, scientists discovered variations in two genes, ADRA2A and IRX1, which predispose people to Raynaud’s phenomenon. The ADRA2A gene is a classic stress receptor that causes small blood vessels to contract.
Raynaud’s phenomenon: what’s next?
Dr Emma Blamont, head of research for Scleroderma and Raynaud’s UK (SRUK), said: “Raynaud’s disease is a chronic painful condition. We know that attacks can be caused by certain triggers like cold and stress, but we know relatively little about why some people have Raynaud’s disease and others do not. For the millions of people living with this disease, simple daily tasks can be a challenge, which is why research like this, which significantly advances our understanding of Raynaud’s disease and the role that genes play in its development, are essential.
She added in conclusion: “The next step will be to confirm these important results in more diverse population groups and to validate our data with functional studies. If successful, these results could help us open new therapeutic avenues for Raynaud’s disease, which which would make it possible to develop more effective, more targeted and gentler treatments.
