Noelia Marquez Pete
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Cristina Perez Ramirez
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Maria del Mar Maldonado Montoro
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Fernando Martinez Martinez
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Fernando Fernández-Llimos
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...
IntroductionRheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration
of the joints, leading to severe pain and functional disability. Vitamin D and
its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association
between VDR gene polymorphisms and risk of developing RA.Material and methodsA retrospective study was performed, including
214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI
(rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene
polymorphisms were analyzed by TaqManResultsThe recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58;
95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that
the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04–2.53) and GTGCA
(p < 0.01; OR = 2.77; 95% CI: 1.53–4.98) for BsmI, Cdx2, FokI, ApaI and TaqI
were associated with higher risk of RA.ConclusionsVDR FokI gene polymorphism showed a trend for risk of RA,
taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR
BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype
analysis indicated that the haplotypes ACGAG and GTGCA were associated
with higher risk of RA.
Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis
