Role of a functional polymorphism in the F2R gene promoter in sarcoidosis.
Sarcoidosis is a multisystem granulomatous disease of unknown aetiology characterized by increased inflammation, and results from gene-environment interactions. Proteinase-activated receptor-1 mediates the interplay between coagulation and inflammation. The rs2227744G > A promoter single nucleotide polymorphism has been linked to inflammation, cardiovascular disease and chronic obstructive pulmonary disease exacerbations. Using a case-control study (184 cases with sarcoidosis and 368 controls), we show that the rs2227744A allele significantly associates with protection from sarcoidosis (P = 0.003, OR = 0.68 (0.52-0.88)).
Centre for Inflammation and Tissue Repair, University College London, London, UK.
Manuela
http://orcid.org/0000-0002-9957-0681
M
Platé
Centre for Inflammation and Tissue Repair, University College London, London, UK.
Phillippa J
PJ
Lawson
Centre for Inflammation and Tissue Repair, University College London, London, UK.
Michael R
MR
Hill
Centre for Inflammation and Tissue Repair, University College London, London, UK.
Richard P
RP
Marshall
Department of Thoracic Medicine, University College Hospital, London, UK.
Helen L
HL
Booth
Faculty of Population Health Sciences, University College London, London, UK.
Meena
M
Kumari
Centre for Inflammation and Tissue Repair, University College London, London, UK.
Geoffrey J
GJ
Laurent
Centre for Inflammation and Tissue Repair, University College London, London, UK.
John R
JR
Hurst
Centre for Inflammation and Tissue Repair, University College London, London, UK.
Rachel C
RC
Chambers
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D065840:Protective Factors; D044463:Receptor, PAR-1 / Q000235:genetics*; D012507:Sarcoidosis / Q000235:genetics*
D044463:Receptor, PAR-1
F2R promoter; proteinase-activated receptor-1; sarcoidosis; single nucleotide polymorphism