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The role and mechanism of CARD9 gene polymorphism in diseases

Changxue Ji1, Zhiwen Yang1, Xiaoming Zhong2

  • 1Songjiang Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (Preparatory Stage), Shanghai, China.

Biomedical Journal
|October 25, 2021
PubMed

Insights

Card9 (caspase recruitment domain-containing protein 9) polymorphisms increase the risk of fungal infections and inflammatory diseases by impairing immune cell function and altering gut microbiota. These genetic variations impact innate immunity and cytokine production.

Area of Science:

  • Immunology
  • Genetics
  • Microbiology

Background:

  • Card9 (caspase recruitment domain-containing protein 9) is a key cytosolic adaptor protein in myeloid cells.
  • It plays a crucial role in inflammatory responses and host defense against microbial pathogens, particularly fungi.
  • Recent research highlights the significance of Card9 genetic variations.

Purpose of the Study:

  • To review the latest findings on Card9 polymorphisms.
  • To explore the association between Card9 polymorphisms and inflammatory diseases.
  • To understand the functional consequences of Card9 variations in immunity.

Main Methods:

  • Literature review of recent studies on Card9 polymorphisms.
  • Analysis of the mechanistic links between Card9 variations and disease pathogenesis.
  • Examination of the impact on immune cell function and gut microbiome composition.

Main Results:

  • Card9 polymorphisms correlate with an increased risk of fungal infections, inflammatory bowel disease, and autoimmune diseases.
  • These polymorphisms impair the activation of RelB (a subunit of non-canonical NF-κB), reducing cytokine and chemokine production.
  • Defective neutrophil accumulation at infection sites and altered gut microbiome composition are observed with Card9 polymorphisms.

Conclusions:

  • Card9 plays a vital protective role against fungal infections and in regulating inflammatory responses.
  • Card9 polymorphisms represent a significant risk factor for various inflammatory and autoimmune conditions.
  • Understanding Card9's function is crucial for developing therapeutic strategies for related diseases.

Keywords:
Autoimmune diseasesCARD9 polymorphismsInfectionInflammatory

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