Page URL:

Gene variant decreases stroke risk in younger people

8 December 2014
Appeared in BioNews 783

A gene variant has been linked to a lower risk of the most common cause of stroke in people under 50.

People with a mutation in the gene PHACTR1 were found to be less susceptible to cervical artery dissection: a tear in the lining of an artery in the neck. This can cause small blood clots, which could lead to a stroke.

This same variant has previously been shown to be associated with lower risk of migraine but increased risk of heart attacks, reports the study in Nature Genetics.

Study author Professor Pankaj Sharma, professor of clinical neurology at Royal Holloway, University of London, said: 'This is an important breakthrough. Our findings provide us with a greater understanding of how this region of the genome appears to influence key vascular functions, which could have major implications for the treatment of these severe and disabling conditions.'

The researchers conducted a genome-wide association study, looking at 1,393 people with cervical artery dissection and 14,416 controls. They then verified their findings in follow-up tests on more than 3,000 people.

This is the first gene to be linked to cervical artery dissection. Previous studies have found that people who have infections, migraines and high blood pressure are more likely to experience cervical artery dissection.

Professor Sharma added: 'Further genetic analyses and worldwide collaborations of this kind provide hope of pinpointing the underlying mechanisms that cause stroke.'

Roughly 150,000 people suffer a stroke in the UK every year; around a quarter of these are under 65. Cervical artery dissection is uncommon and affects 2.6 people in every 100,000 each year.

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
Nature Genetics |  24 November 2014
Gene which protects people under 50 from suffering a stroke is identified by scientists
MailOnline |  25 November 2014
New research discovers gene that reduces risk of stroke
EurekAlert! (press release) |  24 November 2014
Scientists discover 'stroke protection gene' – that also guards against heart attack and migraine
The Independent |  25 November 2014
Stroke risk gene identified
WebMD UK |  25 November 2014
17 August 2020 - by Dr Laura Riggall 
The gene HNF1A critical for the growth and development of the liver and pancreas is linked to an increased risk of stroke in people of African descent, according to new research...
11 April 2016 - by Dr Barbara Kramarz 
A gene called FOXF2 has been linked to small vessel disease in the brain, a condition associated with a higher risk of stroke and dementia...
19 January 2015 - by Dr Nicoletta Charolidi 
Scientists have narrowed down the harmful mutations that cause dilated cardiomyopathy, the leading cause of inherited heart failure, which could lead the way to better screening and more accurate diagnosis.
15 December 2014 - by Dr Molly Godfrey 
Scientists have identified a set of rare gene mutations that may increase the risk of early heart attacks...
18 August 2014 - by Dr Barbara Kramarz 
Five stroke patients have begun to recover after being treated with their own stem cells, and have reported no side effects six months after treatment...
7 July 2014 - by Matthew Thomas 
Tibetan people inherited a genetic variant from an extinct subspecies of humans that helps them survive on the 'roof of the world'...
11 February 2013 - by Nina Chohan 
A mutation in the gene for lipoprotein(a), a type of cholesterol, is linked to aortic valve disease, according to a large international study...
26 November 2012 - by Dr Lucy Spain 
Mutations in the genes for aldosterone and cortisol, hormones that regulate the circulatory system, have been identified as risk factors for hypertension, or high blood pressure...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.