Source: NIH
Source: NIH

An international collaboration led by researchers at the University of Leicester has developed a new genetic risk score that could help identify individuals at risk of coronary heart disease (CHD) much earlier, and potentially improve its prevention. The new study—“Genomic prediction of coronary heart disease”—was published recently in the European Heart Journal and provides new knowledge that could pave the way for earlier and more personalized preventative interventions.

Genetic factors have long been known to make a significant contribution to CHD risk and recent advances in genetics have led to the identification of many single nucleotide polymorphisms (SNPs) that vary from person to person and may be used as markers of disease. In this new study, the investigators looked at more than 49,000 SNPs, creating a grading system known as a genomic risk score (GRS) and showed that the higher the GRS, the higher the future risk of CHD.

“This is the first really large study showing the potential benefits of using a genetic risk score over and above current methods to identify people at increased risk of coronary heart disease,” explained co-senior study author Sir Nilesh Samani, M.D., professor of cardiology and director of the Leicester NIHR Biomedical Research Unit in Cardiovascular 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.”

Currently, 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.

“Unfortunately, current clinical risk scores are not good at evaluating risk until middle-age,” remarked Dr. Samani. “On the other hand the GRS, which is based on your DNA, can be applied at any age. Further studies are needed to demonstrate the precise clinical value of this approach in different populations. However, earlier identification of people who would most benefit from lifestyle changes and medication to reduce their risk of a heart attack could save countless lives.”

“This new tool could be invaluable in more accurately identifying people who are at an increased of developing heart disease,” added Mike Knapton, M.D., associate medical director at the British Heart Foundation, which helped fund the research. “However, it's important to remember that having a genetic predisposition to coronary heart disease does not guarantee that person will have a heart attack. Thanks to research, much of it funded by the BHF, people identified as being at increased risk can reduce their chances of having a heart attack by stopping smoking, exercising regularly, managing their weight and taking prescribed medication, such as a statin.”

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