Sarcoidosis and Crohn’s disease are heterogeneous systemic diseases characterised by granulomatous inflammation. Caspase recruitment domain (CARD)15 is a major susceptibility gene for Crohn’s disease, and specifically for ileal and fibrostenotic subtypes. The C-C chemokine receptor (CCR)5 gene has been associated with both parenchymal pulmonary sarcoidosis and perianal Crohn’s disease. This study explored associations between CARD15 polymorphisms, CCR5 haplotype and distinct pulmonary sarcoidosis subtypes. 185 Caucasian sarcoidosis patients were genotyped for CARD15 and CCR5 polymorphisms. The genetic data were compared with 347 healthy controls and were examined for associations with serial pulmonary function tests and chest radiographs. CARD15 genotypes did not differ between the unselected sarcoidosis cohort and controls.However, patients carrying the functional 2104T (702W) polymorphism were more likely to have radiographic stage IV disease at 4-yr follow-up. All patients possessing both CARD15 2104T and CCR5 HHC haplotype had stage IV disease at presentation. Carriage of 2104T was associated with worse forced expiratory volume in 1 s, whereas carriage of the CARD15 1761G (587R) polymorphism was associated with better lung function. For the first time, an association between two CARD15 polymorphisms and specific sarcoidosis phenotypes has been demonstrated, as well as an additive effect of possessing CARD15 2104T and CCR5 HHC haplotype.

CARD15/NOD2 polymorphisms are associated with severe pulmonary sarcoidosis / Sato, H; Williams, Hr; Spagnolo, Paolo; Abdallah, A; Ahmad, T; Orchard, Tr; Copley, Sj; Desai, Sr; Wells, Au; du Bois, Rm; Welsh, Ki. - In: EUROPEAN RESPIRATORY JOURNAL. - ISSN 0903-1936. - STAMPA. - 35:2(2010), pp. 324-330. [10.1183/09031936.00010209]

CARD15/NOD2 polymorphisms are associated with severe pulmonary sarcoidosis

SPAGNOLO, Paolo;
2010

Abstract

Sarcoidosis and Crohn’s disease are heterogeneous systemic diseases characterised by granulomatous inflammation. Caspase recruitment domain (CARD)15 is a major susceptibility gene for Crohn’s disease, and specifically for ileal and fibrostenotic subtypes. The C-C chemokine receptor (CCR)5 gene has been associated with both parenchymal pulmonary sarcoidosis and perianal Crohn’s disease. This study explored associations between CARD15 polymorphisms, CCR5 haplotype and distinct pulmonary sarcoidosis subtypes. 185 Caucasian sarcoidosis patients were genotyped for CARD15 and CCR5 polymorphisms. The genetic data were compared with 347 healthy controls and were examined for associations with serial pulmonary function tests and chest radiographs. CARD15 genotypes did not differ between the unselected sarcoidosis cohort and controls.However, patients carrying the functional 2104T (702W) polymorphism were more likely to have radiographic stage IV disease at 4-yr follow-up. All patients possessing both CARD15 2104T and CCR5 HHC haplotype had stage IV disease at presentation. Carriage of 2104T was associated with worse forced expiratory volume in 1 s, whereas carriage of the CARD15 1761G (587R) polymorphism was associated with better lung function. For the first time, an association between two CARD15 polymorphisms and specific sarcoidosis phenotypes has been demonstrated, as well as an additive effect of possessing CARD15 2104T and CCR5 HHC haplotype.
2010
35
2
324
330
CARD15/NOD2 polymorphisms are associated with severe pulmonary sarcoidosis / Sato, H; Williams, Hr; Spagnolo, Paolo; Abdallah, A; Ahmad, T; Orchard, Tr; Copley, Sj; Desai, Sr; Wells, Au; du Bois, Rm; Welsh, Ki. - In: EUROPEAN RESPIRATORY JOURNAL. - ISSN 0903-1936. - STAMPA. - 35:2(2010), pp. 324-330. [10.1183/09031936.00010209]
Sato, H; Williams, Hr; Spagnolo, Paolo; Abdallah, A; Ahmad, T; Orchard, Tr; Copley, Sj; Desai, Sr; Wells, Au; du Bois, Rm; Welsh, Ki
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/983383
Citazioni
  • ???jsp.display-item.citation.pmc??? 26
  • Scopus 60
  • ???jsp.display-item.citation.isi??? 59
social impact