Combining information about retinal blood vessel pattern with genetic data can provide an accurate prediction of an individual’s risk of coronary artery disease (CAD) and its life-threatening outcome, heart attack. of myocardium (MI), commonly known as heart attack. The discovery could lead to a simple screening process where an IM risk could be calculated when a person undergoes a routine eye test, researchers say at the European Society of Human Genetics’ annual conference today (Monday).
We already knew that variations in the vasculature of the retina could provide information about our health. Since retinal imaging is a non-invasive technique, we decided to investigate the health benefits we might get from these images. First, we studied the branching patterns of the retinal vasculature by calculating a measure called the fractal dimension (Df) from data available at the UK Biobank (UKB). UKB includes demographic, epidemiological, clinical, imaging and genotyping data from over 500,000 participants across the UK. We found that the lower Df, the simplified vessel branching patterns, is related to CAD and therefore MI “.
Ms Ana Villaplana-Velasco, PhD student at Usher and Roslin Institutes, University of Edinburgh, Edinburgh, UK
The researchers then developed a model that was able to predict the prediction of MI risk by studying UKB participants who had experienced an MI event after collecting their retinal images. The model included Df and traditional clinical factors such as age, sex, systolic blood pressure, body mass index, and smoking status to calculate the risk of personalized MI. “Surprisingly, we found that our model was able to better classify participants with low or high risk of IM in the UKB compared to established models that only include demographics. The improvement in our model was even greater if we add a score. related to genetics. propensity to develop MI “, said Ms. Villaplana-Velasco.
“We wondered if the Df-MI association was influenced by shared biology, so we looked at Df genetics and found nine genetic regions that drive retinal vascular branching patterns. It is known that four of these regions are involved in the genetics of cardiovascular disease. In particular, we found that these common genetic regions are involved in processes related to the severity and recovery of MI. “
These findings may also be useful in identifying propensity for other diseases. Variations in the vascular pattern of the retina also reflect the development of other eye and systemic diseases, such as diabetic retinopathy and stroke. Researchers believe that each condition may have a unique retinal variation profile. “We would like to investigate this further, as well as conduct a gender-specific analysis. We know that women at higher risk for MI or CAD tend to have pronounced retinal vascular deviations compared to the male population. I would like to repeat our separate analysis on men and women to investigate whether a specific sex model for MI completes a better risk classification, “says Ms. Villaplana-Velasco.
Although the researchers knew that variations in the retinal vasculature were associated with an individual’s state of health, their convincing results were surprising. “There have been many attempts to improve the predictive risk models of CAD and MI taking into account the vascular features of the retina, but these did not show any significant improvement compared to the established models. In our case, we found that the clinical definition of MI, the diagnostic codes they describe Myocardial infarction events in medical records are critical to the successful development of predictive models, which support the need to develop definitions of solid disease in large studies such as UKB. Once we validated our definition of IM, we found that our model worked very well, “said Ms. said Villaplana-Velasco.
In the future, a simple retinal examination may provide enough information to identify people at risk. The average age of an MI is 60, and the researchers found that their model achieved its best predictive performance more than five years before the MI event. “Therefore, the calculation of an individualized IM risk for those over 50 would seem appropriate,” says Ms. Villaplan-Velasco. “This would allow doctors to suggest behaviors that could reduce the risk, such as quitting smoking and maintaining normal cholesterol and blood pressure. Our work once again shows the importance of thorough analysis of data that is routinely collected. and its value in the later development of personalized medicine “.
Professor Alexandre Reymond, chair of the conference, said: “This study demonstrates the importance of implementing prevention now and how personalized health provides us with the tools to do so.”
Source:
European Society of Human Genetics