RGD Reference Report - Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behcet's disease in Tunisians. - Rat Genome Database

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

Authors: Karray, EF  Ben Dhifallah, I  Ben Abdelghani, K  Ben Ghorbel, I  Khanfir, M  Houman, H  Hamzaoui, K  Zakraoui, L 
Citation: Karray EF, etal., Joint Bone Spine. 2012 Mar;79(2):144-8. doi: 10.1016/j.jbspin.2011.06.003. Epub 2011 Aug 5.
RGD ID: 8158077
Pubmed: PMID:21820934   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jbspin.2011.06.003   (Journal Full-text)

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 Behcet'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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease no_associationIAGP 8158077DNA:SNP: :rs1544410 (human)RGD 
Behcet's disease  IAGP 8158077DNA:SNP:exon:rs2228570 (human)RGD 
Behcet's disease no_associationISOVDR (Homo sapiens)8158077; 8158077DNA:SNP: :rs1544410 (human)RGD 
Behcet's disease  ISOVDR (Homo sapiens)8158077; 8158077DNA:SNP:exon:rs2228570 (human)RGD 
rheumatoid arthritis  IAGP 8158077DNA:SNP:exon:rs2228570 (human)RGD 
rheumatoid arthritis no_associationIAGP 8158077DNA:SNP: :rs1544410 (human)RGD 
rheumatoid arthritis no_associationISOVDR (Homo sapiens)8158077; 8158077DNA:SNP: :rs1544410 (human)RGD 
rheumatoid arthritis  ISOVDR (Homo sapiens)8158077; 8158077DNA:SNP:exon:rs2228570 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)


Additional Information