How genes can influence keloid scar formation

Have you ever noticed that some people get big, thick scars after a cut or surgery, while others barely have a mark? These thick scars are called keloids, and they can sometimes be itchy, painful, or make people feel self-conscious. But why do some people get keloids and others do not? A recent study published in the Journal of Human Genetics (read the original study here) helps answer this question by looking at the role of our genes. This discovery could help doctors find new ways to help people who are prone to keloids.

What are keloids and why do they form?

Keloids are extra-large scars that keep growing even after a wound has healed. They are different from regular scars because they spread beyond the place where the skin was injured. Scientists call them "fibroproliferative scars" because they involve too much growth of special skin cells called fibroblasts. Keloids can happen to anyone, but some people are more likely to get them—especially people with darker skin tones or those with a family history of keloids. Doctors and scientists have suspected for a long time that genes play a big part in who gets keloids.

The search for a keloid gene: What did scientists find?

In the new study, researchers wanted to see if rare changes in a gene called ASAH1 might make people more likely to get keloids. ASAH1 is important because it helps break down certain fats in our cells, which is needed for healthy skin and healing wounds. Scientists studied 291 Black patients with keloids and compared their genes to 718 similar people who did not have keloids. They were looking for new differences in the ASAH1 gene that might be linked to keloid scars.

They did not find a previously known ASAH1 gene change that had been seen in a Yoruba family in Nigeria, but they did find four new, rare changes in the ASAH1 gene that were not present in people without keloids. To predict if these changes could cause problems, scientists used computer tools called SIFT and PolyPhen, which help guess whether a gene change might harm how a protein works. Some of the new changes looked like they could be damaging, but more research is needed to know for sure.

How does ASAH1 affect wound healing?

ASAH1 is not just important for scars. When this gene does not work right, it can cause a rare condition called Farber disease, which affects how the body handles certain fats and can slow down wound healing. There is also evidence that the way our bodies process fats is important for all kinds of wound healing. A review in Mechanisms of Ageing and Development (see the review here) explains how signals made from fats help wounds heal and keep our skin healthy. This means that if ASAH1 does not work properly, it might not just cause rare diseases—it could also make scars like keloids worse.

Why does this matter for people with keloids?

Knowing about these rare ASAH1 gene changes is helpful because it gives doctors and scientists clues about why some people get keloids. In the future, doctors might use this knowledge to create better treatments or even personalized medicine based on a person's genes. For example, if someone has a gene change that makes keloids more likely, special therapies could be designed just for them. This idea of using genetic information to personalize care is already being explored for other diseases using health AI, as discussed in SlothMD's article on AI-powered risk scores for type 1 diabetes and in how AI helps personalize ovarian cancer treatment. While these examples focus on other conditions, they show how combining genetic research with health AI tools, like those used by SlothMD, could change the way doctors help people with scars in the future.

What is next for keloid research?

This study is a step forward in understanding the genetic reasons behind keloid scars, but there is still a lot to learn. Scientists want to do more tests to see exactly how these rare ASAH1 gene changes affect wound healing and scar growth. They also hope to study people from different backgrounds, since keloids are common in many parts of the world. The more we learn about the genes involved, the closer we get to helping everyone heal with fewer scars.

If you or someone you know struggles with keloids, remember that doctors and scientists are working hard to understand this condition better. One day, thanks to research like this and the power of health AI, there may be new ways to treat or even prevent keloid scars.