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CARD15/NOD2 polymorphisms are associated with severe pulmonary sarcoidosis

H Sato1, H R T Williams, P Spagnolo

  • 1Clinical Genomics Group Royal Brompton Hospital and NHLI, Imperial College, 1B Manresa Road, London SW3 6LR, UK. h.sato@imperial.ac.uk

The European Respiratory Journal
|August 15, 2009
PubMed

Insights

Genetic variations in Caspase recruitment domain (CARD)15 influence sarcoidosis severity and lung function. Specific CARD15 polymorphisms, particularly 2104T, are linked to advanced disease stages and reduced lung capacity, with a combined effect with CCR5 haplotype.

Area of Science:

  • Immunogenetics
  • Pulmonary Medicine
  • Systemic Inflammatory Diseases

Background:

  • Sarcoidosis and Crohn's disease are granulomatous inflammatory conditions.
  • CARD15 is a known susceptibility gene for Crohn's disease.
  • CCR5 gene is associated with pulmonary sarcoidosis and perianal Crohn's disease.

Purpose of the Study:

  • To investigate the association between CARD15 polymorphisms, CCR5 haplotype, and sarcoidosis subtypes.
  • To correlate genetic findings with pulmonary function and radiographic outcomes.

Main Methods:

  • Genotyping of CARD15 and CCR5 polymorphisms in 185 Caucasian sarcoidosis patients and 347 controls.
  • Analysis of associations with serial pulmonary function tests and chest radiographs.

Main Results:

  • No overall difference in CARD15 genotypes between sarcoidosis patients and controls.
  • CARD15 2104T polymorphism associated with radiographic stage IV disease at 4-year follow-up.
  • Combined CARD15 2104T and CCR5 HHC haplotype linked to stage IV disease at presentation.
  • 2104T associated with worse FEV1; 1761G associated with better lung function.

Conclusions:

  • Demonstrates association between CARD15 polymorphisms and specific sarcoidosis phenotypes for the first time.
  • Highlights an additive effect of CARD15 2104T and CCR5 HHC haplotype on disease severity.
  • Suggests a genetic basis for distinct sarcoidosis manifestations and progression.

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