New stroke gene discovery could lead to tailored treatments

February 1, 2013

An international study led by King's College London has identified a new genetic variant associated with stroke. By exploring the genetic variants linked with blood clotting – a process that can lead to a stroke – scientists have discovered a gene which is associated with large vessel and cardioembolic stroke but has no connection to small vessel stroke.

Published in the journal , the study provides a potential new target for treatment and highlights genetic differences between different types of stroke, demonstrating the need for tailored treatments.

About 15 million people worldwide suffer a stroke each year. Of these, five million die and another five million are left permanently disabled, according to numbers from the (WHO). Risk factors for a stroke are high blood pressure, a , , tobacco use, unhealthy diet, , diabetes and advancing age.

A stroke occurs when the blood supply to the brain is cut off, often due to a blood clot blocking an artery that carries blood to the brain, which then leads to . Coagulation (blood clotting) abnormalities, particularly easy clotting of the blood, are therefore common contributing factors in the development of stroke.

Dr Frances Williams, Senior Lecturer from the Department of Twin Research and at King's and lead author of the paper, said: 'Previous studies have demonstrated the influence of genetic factors on the components of coagulation. The goal of this study was to extend these observations to determine if they were further associated with different types of stroke.'

The research was carried out in three stages. The first consisted of a genome-wide association study (GWAS) in 2100 healthy volunteers which identified 23 independent genetic variants that were involved in coagulation. The second stage examined the 23 variants in 4200 stroke and non-stroke cases from centres across Europe (Wellcome Trust Case Control Consortium 2 and MORGAM collections) and found that a particular mutation on the ABO gene was significantly associated with stroke.

Stage three of the study used the MetaStroke cohort, a project of the International Stroke Genetics Consortium which comprises 8900 stroke cases recruited from centres in the Europe, USA and Australia, whose DNA has been collected and undergone GWA scan. It was confirmed that a variant in the ABO blood type gene was associated with stroke, a finding specific to large vessel and cardioembolic stroke.

Dr Williams said: 'The discovery of the association between this genetic variant and stroke identifies a new target for potential treatments, which could help to reduce the risk of stroke in the future. It is also significant that no association was found with small vessel disease, as this suggests that stroke subtypes involve different genetic mechanisms which emphasises the need for individualised treatment.'

Explore further: Do-it-yourself brain repair following stroke

More information: onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8249

Related Stories

Do-it-yourself brain repair following stroke

July 11, 2011

Stroke is a leading cause of long-term disability and death in the United States. A team of researchers — led by Gregory Bix, at Texas A&M College of Medicine, College Station — has identified a way to exploit one ...

Genetic variant increases risk of common type stroke

February 5, 2012

A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date to be associated ...

Stroke risk considerably higher if sibling had stroke

April 10, 2012

If your brother or sister had a stroke, you may be at least 60 percent more likely to have one too, according to research reported in the American Heart Association journal Circulation: Cardiovascular Genetics.

Diabetes drug may reduce brain damage after stroke

December 3, 2012

In a study in mice, scientists at Karolinska Institutet in Sweden have discovered a new potential therapy that may reduce brain damage following stroke in type 2 diabetic patients. The suggested drug is already approved for ...

Recommended for you

Scientists show how memories are linked in the brain

July 22, 2016

Some memories just seem to go together. Think about an important experience in your life. You may also closely remember another experience that happened around that time too, like exchanging vows at your wedding, and then ...

Novel compounds arrested epilepsy development in mice

July 22, 2016

A team led by Nicolas Bazan, MD, PhD, Boyd Professor and Director of LSU Health New Orleans' Neuroscience Center of Excellence, has developed neuroprotective compounds that may prevent the development of epilepsy. The findings ...

Scientists apply new imaging tool to common brain disorders

July 20, 2016

A Yale-led team of researchers developed a new approach to scanning the brain for changes in synapses that are associated with common brain disorders. The technique may provide insights into the diagnosis and treatment of ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.