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Related Experiment Video

Updated: Jun 10, 2025

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A partial loss-of-function variant in STAT6 protects against type 2 asthma.

Katla Kristjansdottir1, Gudmundur L Norddahl1, Erna V Ivarsdottir1

  • 1deCODE genetics/Amgen, Inc, University of Iceland, Reykjavik, Iceland.

The Journal of Allergy and Clinical Immunology
|October 18, 2024
PubMed
Summary

A rare STAT6 gene variant, p.L406P, reduces type 2 inflammation and protects against asthma. This finding highlights STAT6 as a potential therapeutic target for T2-high asthma.

Keywords:
CD4(+) T cellsRNA sequencingSTAT6T2 endotypeasthmapartial loss of functionprotectivevariant

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Signal transducer and activator of transcription 6 (STAT6) is crucial for type 2 (T2) inflammation.
  • STAT6 pathway dysregulation is implicated in allergic diseases and asthma.
  • Noncoding variants in STAT6 are linked to T2 inflammatory traits.

Purpose of the Study:

  • To investigate the association of the rare STAT6 missense variant, p.L406P, with T2 inflammatory traits.
  • To determine the effect of p.L406P on asthma and allergic disease risk.
  • To functionally characterize the impact of p.L406P on STAT6 activity in cellular models.

Main Methods:

  • Association analysis of p.L406P with clinical phenotypes (plasma protein levels, blood cell counts, disease risk).
  • Functional studies in cell lines to assess STAT6 protein activity.
  • Analysis of CD4+ T-cell responses in variant carriers versus non-carriers.

Main Results:

  • p.L406P was associated with reduced STAT6 and IgE levels, and lower eosinophil/basophil counts.
  • The variant conferred protection against asthma, particularly severe T2-high asthma.
  • Functional assays demonstrated impaired IL-4-induced STAT6 activation and downstream gene expression changes in carriers.

Conclusions:

  • The p.L406P variant acts as a partial loss-of-function allele for STAT6.
  • Dampened IL-4 signaling due to p.L406P contributes to protection from T2-high asthma.
  • STAT6 represents a promising therapeutic target for T2-high inflammatory conditions.