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Mutation linked to 42% rise in stroke risk

NHS Choices Behind the Headlines, 2012

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A “single genetic mutation can double your risk of stroke”, the Daily Mail has reported.
The newspaper added that scientists hope the discovery could lead to tailored treatments for the condition.
The news is based on research which looked for genetic variations that were more common in people who had had an ischaemic stroke than in people who had not had one.
By testing the DNA of several thousand participants, the researchers identified a new genetic variant that was associated with increased risk of a type of ischaemic stroke called a “large vessel stroke”.
People can carry up to two copies of the variant, and the study’s authors estimated that each copy of the variant a person carried was associated with about a 42% increase in the odds of a large vessel stroke.
However, it is not yet known whether this genetic variant raises the risk of a stroke, or if it is found near to another variant that is responsible for the increased risk.
However, the study cannot confirm whether the variation itself causes the increased risk of a stroke.
This key issue will need to clarified before these findings can contribute to the development of the new treatments that many newspapers optimistically predicted.
The study was carried out by researchers from the University of Oxford, St George’s, University of London, and a number of other UK and international universities and research institutes.
In general, the coverage of the research was good, although many news stories focused on its potential to lead to the development of screening tests and new treatments.