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Role of a functional polymorphism in the F2R gene promoter in sarcoidosis
Author(s) -
Platé Manuela,
Lawson Phillippa J.,
Hill Michael R.,
Marshall Richard P.,
Booth Helen L.,
Kumari Meena,
Laurent Geoffrey J.,
Hurst John R.,
Chambers Rachel C.
Publication year - 2015
Publication title -
respirology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.857
H-Index - 85
eISSN - 1440-1843
pISSN - 1323-7799
DOI - 10.1111/resp.12608
Subject(s) - sarcoidosis , medicine , inflammation , single nucleotide polymorphism , allele , gene , immunology , disease , pathology , genotype , genetics , biology
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)).