Abstract
IntroductionVitamin D and vitaminD receptor (VDR) polymorphisms are associated with autoimmune diseases including systemic lupus erythematosus (SLE). The aim of this study is to assess the genetic association between VDR polymorphisms: TaqI, ApaI, BsmI and FokI, and SLE with serum levels of vitaminD in the Colombian Caribbean population. MethodsCase and control study. One hundred and thirty-three patients with SLE and 100 healthy individuals were included. VDR polymorphism were genotyped by RT-PCR and Taqman® probes. Allelic, genotypic and haplotype associations were estimated. Serum vitaminD concentrations were quantified by Elisa. Values of 30 to 100ng/ml were established as a normal reference range. P values <.05 were considered statistically significant. ResultsA high prevalence of SLE was observed in women (94%) and was associated with a higher risk of SLE (OR: 10.8; 95%CI: 4.7-24.6; P<.05). Moreover, higher risk of SLE was observed in individuals with FokIVDR [rs2228570] (OR: 1.58; 95%CI: 1.05-2.36) in allelic models. The ACCA Haplotype of TaqI/ApaI/BsmI/FokI polymorphisms was associated with higher risk of SLE (OR: 2.28; 95%CI: 1.12-4.66; psim<.01). Vitamin D deficiency was evidenced in 11.3% of the patients. ConclusionIn this study, the VDR rs2228570 polymorphism and ACCA haplotype were associated with higher SLE risk in an adolescent population.
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