Background: SLE is a complex autoimmune disease whose severity is associated with different factors. Vitamin-D and polymorphisms in VDR have been associated with chronic inflammatory diseases included SLE in different ethnic groups around of the world.
Objectives: To analyze the genetic association of the Vitamin-D-Receptor (VDR) SNPs: TaqI, ApaI, Bsml and FokI with susceptibility to SLE as the association with Vitamin-D serum levels.
Methods: This case-control study included 133 SLE adult patients and 100 healthy controls. SNPs were genotyped by qPCR and Taqman® probes. Allelic, genotypic and haplotypic association were estimated. Serum levels vitamin-D were quantified by ELISA, normal reference values for this study: 30 to 100 ng/ml. p-values <0.05 was considered statistically significant.
Results: Our results showed that female gender had a higher prevalence of SLE (94%) unlike controls (59%) (pG] was associated with SLE (41%) compared to healthy controls (30.5%) behaving like a risk factor for SLE [OR:1.58; 95%IC: 1.05 - 2.36]. Haplotype A/C/C/A [TaqI / ApaI / Bsml / FokI] was found to be a risk factor for SLE [OR=2.28, 95%CI=1.12-4.66, psim<0.01]. Regarding serum levels of vitamin-D, 11.3% of patients showing insufficient levels. In addition, 88.7% of our SLE patients showed sufficient levels of vitamin D.
Conclusion: This study analyzed the association of the VDR SNPs with SLE conducted in Colombian adult patients. Our results demonstrate that FokI and haplotypes in VDR were associated with SLE. No deficiency of vitamin-D was observed.