Genetic tool created to identify risk of heart disease

To identify individuals at risk of coronary heart disease (CHD) much earlier and improve its prevention, a new genetic risk tool has been developed by an Indian-origin researcher.

Genetic factors have long been known to make a significant contribution to CHD risk. Recent advances in genetics have led to the identification of many Single Nucleotide Polymorphisms, or SNPs - very small differences in our DNA that vary from person to person.

The research, published in the European Heart Journal, shows how using this new knowledge could pave the way for earlier and more personalised preventative interventions.

By looking at over 49,000 SNPs the researchers created a score, known as a genomic risk score (GRS), and showed that the higher the GRS the higher the future risk of CHD. People with a GRS in the top 20 percent had an over five-fold higher lifetime risk of CHD.

The clinical risk scores are based on known risk factors for CHD such as cholesterol level, having high blood pressure or diabetes and smoking. But such scores are imprecise and unable to identify a large proportion of people who develop CHD.

The researchers showed that the GRS was independent of the clinical risk scores and by combining the two risk score tools they were better able to predict people who were at risk of developing CHD in the next 10-years.

“This study shows the potential benefits of using a genetic risk score over and above current methods to identify people at increased risk of coronary heart disease.

We already know that CHD starts at an early age, several decades before symptoms develop, and preventative measures should ideally be applied much earlier, especially to those who are at increased risk,” said Nilesh Samani, Professor at the University of Leicester, England.

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