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

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• 作者：Emna Fakhfakh Karray^a ; ^b ; ^{emna2fakh@yahoo.fr} ; Imen Ben Dhifallah^a ; ^{bendhifallahimene@gmail.com} ; Kawther Ben Abdelghani^b ; Imed Ben Ghorbel^c ; Monia Khanfir^c ; Habib Houman^c ; Kamel Hamzaoui^a ; Leith Zakraoui^b
• 关键词：Vitamin D receptor ; Beh&ccedil ; et's disease ; Rheumatoid arthritis ; Gene polymorphism
• 刊名：Joint Bone Spine
• 出版年：2012
• 期刊代码：138_1297319x
• 类别：med
• 出版时间：March, 2012
• 卷：79
• 期：2
• 页码：144-148
• 文件大小：194 K

摘要

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 Beh莽et'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.