Role of a functional polymorphism in the F2R gene promoter in sarcoidosis

Respirology. 2015 Nov;20(8):1285-7. doi: 10.1111/resp.12608. Epub 2015 Aug 17.

Abstract

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)).

Keywords: F2R promoter; proteinase-activated receptor-1; sarcoidosis; single nucleotide polymorphism.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Case-Control Studies
  • Female
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Protective Factors
  • Receptor, PAR-1 / genetics*
  • Sarcoidosis / genetics*

Substances

  • Receptor, PAR-1