How scientists find hidden heart disease risk genes

Heart disease is a leading cause of illness around the world, but did you know that our DNA holds many secrets about who might be at risk? Scientists are always on the lookout for clues in our genes that explain why some people get heart disease while others stay healthy. A recent study, published in Nature Cardiovascular Research, uses some of the most powerful genetic tools ever created to find these clues in a new way (Barbera et al., 2025).

What are genetic variants and why do they matter?

Our bodies are built from instructions in our DNA, like a recipe book. Sometimes, there are small changes in this recipe, called genetic variants. Some variants have little effect, but others can make it more likely for someone to get certain diseases—including coronary artery disease, which is when the blood vessels that feed your heart get blocked or damaged. Scientists want to find out which of these variants really matter for heart disease so they can help people stay healthier.

Massively parallel reporter assays: a new tool for discovery

To solve this mystery, researchers used a technology called massively parallel reporter assays (MPRAs). Imagine trying to test thousands of different recipes all at once to see which ones make the best cake. That’s what MPRAs do, but with DNA. They allow scientists to test more than 25,000 genetic variants in special cells called vascular smooth muscle cells, which are important for keeping blood vessels healthy. This high-speed method helps find which variants actually change how genes work in the cells that matter for heart disease.

Uncovering hidden risk: more variants matter than we thought

Before, scientists believed only certain variants close to known disease genes were important. But the new research discovered that many more variants—some farther away from the main genes—can also play a role in heart disease. These are called regulatory variants because they control how genes turn on or off, a bit like a light switch. Some of these switches were thought to be too far to matter, but the study found they can still have an effect by changing how cells behave in the blood vessels. This means there’s a bigger range of genetic risk factors than we realized (Tewhey et al., 2016).

Why this matters for your heart health

Understanding which genetic variants are risky can help doctors and scientists develop better tests to predict heart disease. In the future, with more knowledge about these hidden risk factors, health AI tools like SlothMD could offer more personalized advice about your heart health. For example, if we know which variants you carry, a health AI might suggest helpful lifestyle changes or early check-ups to keep your heart strong. Of course, it’s always important to use health AI safely and protect your privacy; you can learn more about the smart ways to keep your health data private in this helpful SlothMD article.

The future of genetic research and health AI

This research is just the beginning. As scientists continue to discover more about how our genes affect heart disease, health AI tools can use this information to help more people. For those using AI health assistants, it’s important to stay informed about their safety and how they handle your information. If you’re curious about how safe it is to use AI health assistants and what risks you should watch out for, you can read this SlothMD article for more tips.

New studies are coming out all the time. For example, recent work is exploring new ways to map out these genetic changes and their effects on health (Toropainen et al., 2022), and looking deeper into how non-coding parts of our DNA—parts that don’t make proteins but still control genes—might influence disease risk (Kellman et al., 2025).

What it means for patients

All these discoveries mean that in the future, doctors and patients may have better ways to understand and manage heart health. By finding more of these risk genes and understanding how they work, we can develop better ways to predict, prevent, and treat coronary artery disease. With tools like SlothMD and other health AI systems, more people can get the information they need to make healthy choices, while also keeping their personal data safe. Science is making big strides, and that’s good news for everyone’s heart.