We’ve waited a long time for news of promising research on the cause of Raynaud’s. Finally, scientists recently reported they’ve discovered genes linked to Raynaud’s phenomenon.
Researchers at Queen Mary’s University and the Berlin Institute of Health carried out the largest genetic study of Raynaud’s phenomenon we’re aware of to date. The team used electronic health records from the UK Biobank containing genetic and health information from 500,000 U.K. participants to identify more than 5,000 people affected by Raynaud’s. This data was used to assess whether sufferers of Raynaud’s are genetically different from those not known to have the condition. The study was published in the journal Nature Communications.
Now, before we get too excited about the research, keep in mind that the sample of patients studied with an incidence of Raynaud’s — while large in its absolute number — represents only 1% of the full sample, yet we know that the incidence of Raynaud’s in the general population is estimated to be 5 times or more that number. So there may be some bias in the sample (e.g., unidentified cases), but still, this is a good start!
The study results show scientists identified two genes that predisposed participants to the primary form of Raynaud’s phenomenon: One was the alpha-2A-adrenergic receptor for adrenaline (ADRA2A). This receptor causes the small blood vessels to contract when the body senses stress or danger (think “Fight or Flight Response”).
The second gene is a DNA-binding transcription factor labeled IRX1 which regulates the ability of blood vessels to dilate. “If its production is increased, it may activate genes that prevent constricted vessels from relaxing as they would normally do. Together with the overactive adrenaline receptor, this may then lead to the vessels not supplying enough blood for a longer period of time, which leads to the observed white fingers and toes” explained professor Maik Pietzner, professor of health data modeling at PHURI and group leader at BIH who, along with professor Claudia Langenberg, led the study.
These findings of genes linked to Raynaud’s confirm what was learned in a 2012 research study conducted by Maqsood Chotani, a principal investigator at the Research Institute at Nationwide Children’s Hospital in Columbus, Ohio (New Raynaud’s Research on Alpha-2C Receptors). Dr. Chotani was quoted in that study as stating: “The alpha-2C receptor has a specializ