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)).

Original publication

DOI

10.1111/resp.12608

Type

Journal article

Journal

Respirology

Publication Date

11/2015

Volume

20

Pages

1285 - 1287

Keywords

F2R promoter, proteinase-activated receptor-1, sarcoidosis, single nucleotide polymorphism, Adult, Alleles, Case-Control Studies, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Protective Factors, Receptor, PAR-1, Sarcoidosis