Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet's disease in Tunisians

Joint Bone Spine. 2012 Mar;79(2):144-8. doi: 10.1016/j.jbspin.2011.06.003. Epub 2011 Aug 5.

Abstract

Objectives: Reports of immunomodulating effects of vitamin D suggest a need for examining allele and genotype frequencies of the vitamin D nuclear receptor gene (VDR) in patients with autoimmune diseases. T-helper-1 (Th1) counts in peripheral blood are increased in both rheumatoid arthritis (RA) and Behçet's disease (BD). We studied VDR polymorphisms in patients with these two diseases in Tunisia.

Methods: In 108 patients with RA, 131 patients with BD, and 152 controls, we studied FokI and BsmI VDR polymorphisms, using the restriction fragment length polymorphism technique.

Results: The FokI polymorphism alleles and genotype were significantly more common in the RA group than in the controls (P=0.001 and P=0.005, respectively). The FokI F allele and F/F genotype were significantly associated with BD (P=0.0003 and P=0.002, respectively). Furthermore, in the group with BD, the FokI polymorphism was significantly associated with the presence of vascular manifestations (P=0.006). In patients with RA, the FokI polymorphism was significantly associated with female gender (P=0.003). No significant associations were found between the Bsm1 polymorphism and RA or BD.

Conclusion: The VDR F allele is associated with RA and BD in Tunisians.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Arthritis, Rheumatoid / ethnology*
  • Arthritis, Rheumatoid / genetics*
  • Behcet Syndrome / ethnology*
  • Behcet Syndrome / genetics*
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Calcitriol / genetics*
  • Sex Characteristics
  • Tunisia

Substances

  • Receptors, Calcitriol