Genetic reasons behind Raynaud’s phenomenon discovered

Published

2 years ago

August 4, 2023

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Reviewed by Danielle Ellis, B.Sc. Aug 4 2023

Researchers at Queen Mary University of London's Precision Healthcare Research Institute (PHURI) and the Berlin Institute of Health (BIH) at Charité – Universitätsmedizin Berlin have identified the genetic causes of Raynaud's phenomenon. Their findings, published today in Nature Communications, could lead to the first effective treatments for people with Raynaud's.

Raynaud's phenomenon (RP) is a heritable condition that affects blood circulation. It's a vasopastic condition, which means that small blood vessels near the surface of the skin have spasms that can limit blood flow. People with Raynaud's often experience pain in their fingers and toes, often alongside changes of colour in their skin, due a lack of blood flow during attacks when they're cold or emotionally stressed. In more serious cases, it can cause severe pain or ulcers.

Around 2-5% of the population are affected by Raynaud's. Despite it being a common condition, it's under-investigated and little is understood about the genetic cause of the condition.

There are limited treatments available for RP. Doctors usually advise that the patient use 'self-management' strategies such as keeping warm and avoiding triggers of attacks. In severe cases medications can be prescribed, these are 'repurposed drugs', usually medicines to lower high blood pressure. These often cause severe side effects in patients. A better understanding of the underlying genetic mechanisms that cause RD is needed to develop safe and effective treatments.

Researchers led by Professor Claudia Langenberg and Professor Maik Pietzner, working across PHURI and the BIH, carried out the largest genome-wide association study (GWAS) for Raynaud's phenomenon. The team used electronic health records from the UK Biobank, a large-scale biomedical database and research resource containing genetic and health information from half a million UK participants, to identify more than 9,000 people affected by Raynaud's. The team also used electronic health records from Queen Mary's Genes & Health study. The findings

The researchers discovered variation in two genes that predisposed participants to Raynaud's phenomenon: One was the alpha-2A-adrenergic receptor for adrenaline, ADRA2A, a classic stress receptor that causes the small blood vessels to contract.

"This makes sense when it's cold or dangerous, because the body has to supply the inside of the body with blood," explains Maik Pietzner, Health Data Chair of PHURI and co-lead of the Computational Medicine Group at BIH.

"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 suppling enough blood for a longer period of time, which leads to the observed white fingers and toes."

The researchers were also able to replicate parts of their findings using data from participants of British Bangladeshi and Pakistani origin from Queen Mary's Genes & Health study.

The researchers' findings also help to understand for the first time why the small vessels react so strongly in patients, even apparently without external stimuli, such as exposure to cold. Raynaud's is a painful, chronic condition that affects around one in ten people in the UK. We know that attacks can be brought on by certain triggers like cold and stress, but relatively little is known about why some people experience Raynaud's and others don't. For the millions of people living with this condition, simple everyday tasks can be a challenge, so research like this, which significantly advances our understanding of Raynaud's and the role that genetics may play in causing it, is crucial."

Dr Emma Blamont, Head of Research for Scleroderma and Raynaud's UK, Queen Mary University of London Related StoriesResearch illuminates the genetic basis of human skeletal proportionsDiagnosis of rare inherited metabolic condition in a Sumatran orangutanStudy identifies specific genetic variants that affect the skeletal form and ties a major evolutionary facet of human anatomical change to pathogenesis

"The next step is to confirm these important findings in more diverse population groups and validate the results through functional studies. If successful, these findings could help us unlock more new therapeutic avenues for Raynaud's leading to better, more targeted and kinder treatments."

The findings could lead to recommendations for patients to help manage the condition. For example, the researchers showed that people with a genetic predisposition to low blood sugar levels have an increased risk of Raynaud's phenomenon and therefore patients should possibly avoid longer episodes of low blood sugar. Their findings may even point to novel treatment options as Claudia Langenberg explained "For example, already approved drugs that more or less specifically inhibit the function of ADRA2A could be an alternative, such as the antidepressant mirtazapine.

"I am convinced that our findings provide a path to novel effective medications." Source:

Queen Mary University of London

Politics

Starmer ran the gauntlet with Trump but just about emerged intact

Published

1 hour ago

July 28, 2025

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Starmer ran the gauntlet with Trump but just about emerged intact

When TV cameras are let in to film world leaders meeting in person, the resulting footage is usually incredibly boring for journalists and incredibly safe for politicians.

Not with Donald Trump.

Sir Keir Starmer ran the gauntlet on Monday.

Trump latest: President treats PM to a ride on Air Force One

Put through a total of almost 90 minutes of televised questioning alongside the American leader, it was his diciest encounter with the president yet.

But he still just about emerged intact.

For a start, he can claim substantive policy wins after Trump announced extra pressure on Vladimir Putin to negotiate a ceasefire and dialled up the concern over the devastating scenes coming from Gaza.

There were awkward moments aplenty though.

Top of the list is Mr Trump’s trashing of the prime minister’s Labour colleague, London mayor Sir Sadiq Khan.

But more important than that, Monday’s meeting was the clearest representation of the political gulf that separates the two leaders.

“He’s slightly more liberal than me,” Mr Trump said of Sir Keir when he arrived in Scotland.

What an understatement.

On green energy, immigration, taxation and online regulation, the differences were clear to see.

Sir Keir just about managed to paper over the cracks by chuckling at times, choosing his interventions carefully and always attempting to sound eminently reasonable.

At times, it had the energy of a man being forced to grin and bear inappropriate comments from his in-laws at an important family dinner.

But hey, it stopped a full Trump implosion – so I suppose that’s a win.

My main takeaway from this Scotland visit though is not so much the political gulf present between the two men, but the gulf in power.

Sir Keir flew the length of the country he leads to be the guest at the visiting president’s resort.

He was then forced to sit through more than an hour of uncontrolled, freewheeling questioning from a man most of his party and voters despise, during which he was offered unsolicited advice on how to beat Nigel Farage and criticised (albeit indirectly) on key planks of his government’s policy platform.

In return he got warm words about him (and his wife) and relatively incremental announcements on two foreign policy priorities.

So why does he do it?

Because, to borrow a quote from a popular American political TV series: “Air Force One is a big plane and it makes a hell of a noise when it lands on your head.”

World

Israeli human rights organisations accuse country of genocide

Published

1 hour ago

July 28, 2025

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Israeli human rights organisations accuse country of genocide

Two Israeli human rights organisations have said the country is committing genocide against Palestinians in Gaza.

In reports published on Monday, B’Tselem and Physicians for Human Rights (PHR) said Israel was carrying out “coordinated, deliberate action to destroy Palestinian society in the Gaza Strip”.

The two groups are the first major voices within Israeli society to make such accusations against the state during nearly 22 months of war against Hamas.

Israel has vehemently denied claims of genocide. David Mencer, a spokesperson for the government, called the allegation by the rights groups “baseless”.

He said: “There is no intent, (which is) key for the charge of genocide… it simply doesn’t make sense for a country to send in 1.9 million tonnes of aid, most of that being food, if there is an intent of genocide.”

B’Tselem director Yuli Novak called for urgent action, saying: “What we see is a clear, intentional attack on civilians in order to destroy a group.”

The organisation’s report “is one we never imagined we would have to write,” Ms Novak said. “The people of Gaza have been displaced, bombed, and starved, left completely stripped of their humanity and rights.”

PHR said Israel’s military campaign shows evidence of a “deliberate and systemic dismantling of Gaza’s health and life-sustaining systems”.

Both organisations said Israel’s Western allies were enabling the genocidal campaign, and shared responsibility for suffering in Gaza.

“It couldn’t happen without the support of the Western world,” Ms Novak said. “Any leader that is not doing whatever they can to stop it is part of this horror.”

Hamas said the reports by the two groups were a “clear and unambiguous testimony from within Israeli society itself regarding the grave crimes perpetrated by the occupation regime against our people”.

Dire humanitarian conditions

Since Israel launched its offensive in Gaza following the deadly Hamas attack on 7 October 2023, nearly 60,000 people – mostly civilians – have been killed, according to Gaza health officials.

Much of the infrastructure has been destroyed, and nearly the whole population of more than two million has been displaced.

An increasing number of people in Gaza are also dying from starvation and malnutrition, according to Gaza health authorities.

On Monday, the Gaza health ministry reported that at least 14 people had died from starvation and malnutrition in the past 24 hours, raising the total number of hunger-related deaths during the war to 147.

Among the victims were 88 children, with most of the deaths occurring in recent weeks.

UN agencies say the territory is running out of food for its people and accuse Israel of not allowing enough aid deliveries to the enclave. Israel denies those claims.

Israeli Prime Minister Benjamin Netanyahu on Sunday said “there is no starvation in Gaza” and vowed to fight on against Hamas.

US President Donald Trump said on Monday that many in Gaza are facing starvation and implied that Israel could take further steps to improve humanitarian access.

Israel has repeatedly said its actions in Gaza are in self-defence, placing full responsibility for civilian casualties on Hamas. It cites the militant group’s refusal to release hostages, surrender, or stop operating within civilian areas – allegations that Hamas denies.

UK

Two killed in stabbing at business premises in London

Published

1 hour ago

July 28, 2025

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Two killed in stabbing at business premises in London

Two men have died after a stabbing in central London.

Police were called to a business premises in Long Lane, Southwark, at 1pm on Monday, where they found four people had been stabbed.

A 58-year-old man died at the scene while three others were taken to hospital, the Metropolitan Police said. These included a 27-year-old man who has since died.

A third man, who is in his thirties, remains in hospital with injuries described as non-life-threatening.

Another man in his thirties, who has been detained in connection with the incident, remains in a life-threatening condition in hospital.

Detective Chief Superintendent Emma Bond said: “Our investigation is in the early stages and we are working hard to understand the full circumstances of this shocking incident.

“At this point, we do not believe it to be terrorism-related and there is no further risk to the public.”