Genomics

Retinal examination may predict heart attack risk

Routine eye screening combined with genetic data could provide insight into an individual's heart health and disease risk.

Glasses

Assessing blood vessel patterns in a person's retina combined with details of their genetic data can accurately predict their risk for coronary heart disease and heart attacks, according to a Roslin research.

The discovery could contribute to the development of a simple screening procedure that could calculate heart attack risk during a routine eye exam, according to research presented at the annual conference of the European Society of Human Genetics.

The scientists examined the branching patterns of blood vessels in the retina by calculating a measure called fractal dimension (Df). To do this, they used data from the UK Biobank, a health study that includes demographic, epidemiological, clinical, imaging and genotyping data from more than 500,000 participants across the United Kingdom.

The researchers developed a model that was able to predict heart attack risk by examining data from Biobank participants who had suffered a heart attack after their retinal images were recorded.

The model took into account fractal dimensions in addition to traditional clinical factors such as age, gender, blood pressure, body mass index and smoking status to calculate an individual risk of heart attack.

We already knew that variations in the vasculature of the retina might offer insights into our health. We found that simplified vessel branching patterns is related to coronary disease and hence heart attack. Our work once more shows the importance of comprehensive analysis of data that is routinely collected and its value in the further development of personalised medicine.

Anna Villaplana-Velasco, PhD student, Usher Institute and Roslin Institute

Improved accuracy

The resulting model was able to better classify Biobank participants at low or high risk of heart attack than established models that consider only demographic data. The researchers found that the model was further improved by including a score for genetic propensity to have a heart attack.

Investigation of the genetics of Df revealed nine genetic regions that were discovered to be driving retinal blood vessel patterns four of which are known to be involved in cardiovascular disease genetics, including processes related to heart attack severity and recovery.

These findings could also be useful in determining propensity for other diseases. Variations in retinal vessel patterns also reflect the development of other eye and systemic diseases, such as vision loss associated with diabetes and stroke. The researchers believe it is possible that each disease has a unique retinal variation profile and hope to investigate this further, including a sex-specific analysis.

The results suggest that a simple retinal examination in people over age 50 may provide enough information to identify people at risk for heart attack.

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