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Genetic Variation Linked to Stroke Risk

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Frequently referred to as the silent killer because frequently there is little if any advanced warning, stroke is responsible for more deaths worldwide than any other condition except heart disease.

According to the World Health Organization, approximately six million people die annually from stroke. That figure equates to approximately one stroke-related death for every ten deaths that occur. Many survivors are frequently left disabled as a result of the stroke.

While there are several types of stroke, one of the most common types is an ischemic stroke. Ischemic strokes occur when a blood clot forms resulting in a blocked artery that cuts off the blood supply.

One of the most common types of ischemic strokes is a large artery ischemic stroke or thrombotic stroke. The arteries that supply blood to the brain become blocked, cutting off blood supply to the brain. The result is a stroke. Approximately one-third of all strokes are large artery ischemic strokes.

In a study funded by the Wellcome Trust, researchers identified a variation on the HDAC9 gene that appears to double the risk of large artery ischemic stroke.

Led by co-authors Professor Peter Donnelly, Director of the Wellcome Trust Centre for Human Genetics in the University of Oxford, and Professor Hugh Markus from St. George’s University of London, researchers examined the genetic makeup of more than 10,000 stroke patients. The results were then compared with the genetic makeup of 40,000 persons who were stroke-free.

Researchers found that the risk of large artery ischemic stroke is increased when an alteration or variation occurs on the HDAC9 gene. The HDAC9 gene is linked to the development of heart and muscle tissue. The variation on the HDAC9 gene occurs in approximately 10 percent of the population.

According to study findings, those with the HDAC9 variation are more likely to suffer a large artery ischemic stroke. For persons who inherit an altered HDAC9 gene from both parents, the risk of large artery ischemic stroke is double.

The variation on the HDAC9 gene appears limited to an increased risk of large artery ischemic stroke only. While researchers are not certain how the variation on the HDAC9 gene works to increase the risk of stroke, they are hopeful that the discovery will lead to new treatments to prevent stroke and possibly treat patients after strokes occur.


Types of Stroke. National Stroke Association. 2012. http://www.stroke.org/site/PageServer?pagename=TYPE

Wellcome Trust (2012, February 5). Genetic variant increases risk of common type stroke. ScienceDaily. Retrieved February 7, 2012, from http://www.sciencedaily.com/releases/2012/02/120205163756.htm

Claire Bates. Single genetic mutation can double your risk of stroke – but scientists hope discovery could lead to tailored treatments. The Daily Mail UK. 06 Feb 2012.

Reviewed February 9, 2012
by Michele Blacksberg RN
Edited by Jody Smith

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.



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