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Gene variant decreases stroke risk in younger people

08 December 2014

By Sean Byrne

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.


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15 December 2014 - by Dr Molly Godfrey 
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18 August 2014 - by Dr Barbara Kramarz 
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07 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...

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