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Joint Bone Spine
Volume 79, n° 2
pages 144-148 (mars 2012)
Doi : 10.1016/j.jbspin.2011.06.003
accepted : 27 April 2011
Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet’s disease in Tunisians

Emna Fakhfakh Karray a, b, , Imen Ben Dhifallah a, , Kawther Ben Abdelghani b, Imed Ben Ghorbel c, Monia Khanfir c, Habib Houman c, Kamel Hamzaoui a, Leith Zakraoui b
a School of Medicine, Tunis El Manar University, Homeostasis and Cell Dysfunction Unit Research 99/UR/08-40, Tunis, Tunisia 
b Rheumatology Department, Mongi Slim Hospital, La Marsa, Tunisia 
c Department of Internal Medicine, La Rabta Hospital, Tunis, Tunisia 

Corresponding author. Tunis University of Medicine, 15, rue Djebel Lakdar, 1007 Tunis, Tunisia.Co-corresponding author.

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.


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.


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.


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

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Keywords : Vitamin D receptor, Behçet’s disease, Rheumatoid arthritis, Gene polymorphism

© 2011  Société française de rhumatologie@@#104156@@