Role of a functional polymorphism in the F2R gene promoter in sarcoidosis.
Manuela PlatéPhillippa J LawsonMichael R HillRichard P MarshallHelen L BoothMeena KumariGeoffrey J LaurentJohn R HurstRachel C ChambersPublished in: Respirology (Carlton, Vic.) (2015)
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)).
Keyphrases
- chronic obstructive pulmonary disease
- oxidative stress
- cardiovascular disease
- dna methylation
- genome wide
- gene expression
- copy number
- transcription factor
- type diabetes
- lung function
- genome wide identification
- metabolic syndrome
- coronary artery disease
- binding protein
- cardiovascular risk factors
- cardiovascular events