Scientists at deCODE genetics have uncovered a rare genetic variant in the STAT6 gene that protects against asthma, a breakthrough published in the Journal of Allergy and Clinical Immunology.
This finding could open doors to better treatments for severe asthma patients.
Asthma is a long-term disease that causes inflammation in the airways, making it hard to breathe.
It affects around 300 million people globally, with 5–10% of patients experiencing severe asthma that doesn’t respond well to common treatments like steroids.
Severe asthma can be life-limiting and hard to manage.
The researchers identified a rare missense variant in the STAT6 gene, which is important for immune responses.
This variant reduces the levels of STAT6 protein in immune cells, weakening a type of inflammation known as T2-mediated response. This inflammation plays a key role in many asthma cases.
People carrying this variant are 73% less likely to develop moderate to severe asthma compared to those without it.
The variant also lowers the levels of molecules and cells linked to T2 inflammation, such as IgE (a molecule involved in allergic reactions), eosinophils, and basophils (both types of white blood cells).
The variant is extremely rare outside of Iceland, where the study was conducted, making it difficult to replicate the exact results in other populations. However, researchers found similar protective effects for asthma and eosinophil counts when analyzing groups from Iceland, Denmark, and the UK by looking at other rare variants in STAT6.
The STAT6 pathway is already a target for asthma medications, with many drugs focusing on specific molecules in the T2 inflammatory response. This discovery suggests that directly targeting STAT6 could have a more powerful effect by combining the benefits of several existing drugs.
“By reducing STAT6 activity, we might be able to treat severe asthma more effectively,” the researchers say. This could be particularly beneficial for people with uncontrolled asthma who don’t respond to current therapies.
While the variant itself is rare, its discovery highlights the potential of STAT6 as a target for developing new asthma treatments. This research brings new hope for those living with severe asthma, offering the possibility of better control and improved quality of life in the future.
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