CARD15 gene mutations in sarcoidosis

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Updated: Aug 30, 2026

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification
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M Schürmann1, R Valentonyte, J Hampe

  • 1Institute of Human Genetics, University of Lübeck, Lübeck, Germany. schuerma@medinf.mu-luebeck.de

The European Respiratory Journal
|November 19, 2003
PubMed

Insights

CARD15 gene mutations are significant in Blau syndrome and Crohn's disease but play no major role in sarcoidosis. Further research may explore limited importance in specific sarcoidosis patient groups.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Sarcoidosis, Blau syndrome, and Crohn's disease are granulomatous inflammatory conditions.
  • CARD15 gene mutations are linked to Crohn's disease and Blau syndrome.
  • The role of CARD15 mutations in sarcoidosis requires investigation.

Purpose of the Study:

  • To investigate the association between CARD15 gene mutations and sarcoidosis.
  • To determine if CARD15 polymorphisms contribute to sarcoidosis development.
  • To compare CARD15 mutation frequencies in sarcoidosis patients with those in Crohn's disease and Blau syndrome.

Main Methods:

  • Genotyping of 138 families (302 sarcoidosis patients, 127 controls) for four CARD15 polymorphisms.
  • Sequencing of the Blau syndrome mutation region in 39 selected sarcoidosis patients.
  • Analysis of CARD15 transmission disequilibrium in families with affected siblings.

Main Results:

  • No known Blau syndrome mutations or novel sequence alterations were identified in sarcoidosis patients.
  • Increased transmission of rare alleles at CARD15 polymorphic sites 802C>T (SNP5) and 2722G>C (SNP12) was observed in some sarcoidosis groups.
  • CARD15 mutations did not appear to be a major factor in the studied sarcoidosis population.

Conclusions:

  • CARD15 mutations are not a primary cause of sarcoidosis in this population.
  • The genetic contribution of CARD15 mutations to sarcoidosis may be limited, particularly in patients without a family history.
  • Further studies are warranted to elucidate the precise role of CARD15 in specific sarcoidosis subgroups.

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