Copy number variation of FCGR genes in etiopathogenesis of sarcoidosis

PLoS One. 2017 May 4;12(5):e0177194. doi: 10.1371/journal.pone.0177194. eCollection 2017.

Abstract

We have previously revealed that, in contrast to polymorphism of FCGR2B and FCGR3B, polymorphism of FCGR2A, FCGR2C and FCGR3A genes, encoding receptors for Fc fragment of immunoglobulin G (Fcγ receptors), play a role in increased level of circulating immune complexes with occurrence of Mycobacterium tuberculosis heat shock proteins in patients with sarcoidosis. However, this immunocomplexemia might also be caused by decreased clearance by immune cells due to a changed copy number of FCGR genes. Thus, the next step of our study was to evaluate copy number variation of FCGR2A, FCGR2B, FCGR2C, FCGR3A and FCGR3B in this disease. The analysis was carried out by real-time quantitative PCR on 104 patients and 110 healthy volunteers. Despite previously detected variation in allele/genotype frequencies of FCGR in sarcoidosis and its particular stages, there was no copy number variation of the tested genes between sarcoidosis or its stages and healthy control, as well as between stages themselves. A relevant increase in copy number of FCGR2C and FCGR3B in Stage IV of sarcoidosis vs. other stages and controls was detected, but this observation was based on a limited number of Stage IV patients. Hence, polymorphism of FCGR genes seems to be more important than their copy number variation in etiopathogenesis of sarcoidosis in patients from the Polish population.

MeSH terms

  • Adult
  • Aged
  • DNA Copy Number Variations*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Receptors, IgG / genetics*
  • Sarcoidosis / genetics*
  • Young Adult

Substances

  • Receptors, IgG

Grants and funding

The study was funded by the Ministry of Science and Higher Education and the National Science Centre in Poland, and Medical University of Gdansk (grants number 5160/B/P01/2010/39 and ST-02-0127/07/232). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.