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

Summary

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.

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