Genes linked to Raynaud syndrome

New research has uncovered some potential genes that may contribute to Raynaud syndrome, British scientists have announced.

Professor Maik Pietzner of Queen Mary University of London, UK, and colleagues carried out the largest genome wide study to date for Raynaud syndrome.

They compared genetic information against health records from half a million UK participants in the UK Biobank database.

Further information from participants of British Bangladeshi and Pakistani origin from the separate Queen Mary’s Genes & Health study was also used.

This led to the identification of over 9,000 people with Raynaud syndrome. Among these people there was a raised rate of specific variations in two genes, one of which was ‘alpha-2A-adrenergic receptor for adrenaline’, or ADRA2A.

The team explain in Nature Communications recently that this gene is a classic stress receptor that causes the small blood vessels to contract. They hope the findings could pave the way for the first effective treatment.

Professor Pietzner said: “This makes sense when it’s cold or dangerous, because the body has to supply the inside of the body with blood.

“In Raynaud’s patients, however, this receptor seemed to be particularly active, which could explain the vasospasms, especially in combination with the second gene that we found – this gene is the transcription factor IRX1, which may regulate 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.”

Pietzner, M. et al. Nature Communications 4 August 2023

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