Abstract
Recently, several studies have demonstrated the role of vitamin D receptor (VDR) polymorphisms in the development of systemic lupus erythematosus (SLE); however, these results are inconsistent between different cohorts. Therefore, we studied the prevalence of the VDR FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236) genotypes and alleles in SLE patients (n = 258) and healthy individuals (n = 545) in a Polish population. We did not observe significant differences for either the VDR FokI, BsmI, ApaI and TaqI genotype and allele frequencies in patients with SLE and healthy individuals. However, the frequency of the VDR F/F and F/f genotypes of FokI was statistically different between patients with renal disease and patients without this symptom OR = 3.228 (1.534–6.792, p = 0.0014), p corr = 0.0476)]. There was no association of the studied VDR BsmI, ApaI and TaqI polymorphisms with clinical manifestations and laboratory profiles in patients with SLE. Our study indicates that the studied VDR FokI variant might increase the risk of some clinical presentations in patients with SLE.Electronic supplementary materialThe online version of this article (doi:10.1007/s11033-012-2118-6) contains supplementary material, which is available to authorized users.
Highlights
Systemic lupus erythematosus (SLE) is an autoimmune disease for which the underlying cause remains unclear [1]
Since previous studies indicated the association of vitamin D receptor (VDR) polymorphisms to some clinical SLE manifestations [13,14,15,16,17,18,19], we evaluated their contribution to clinical manifestations present in the patient group we studied
The immune system in patients with SLE is characterized by an enhanced humoral response and decreased T cell cytotoxicity [22,23,24]
Summary
Systemic lupus erythematosus (SLE) is an autoimmune disease for which the underlying cause remains unclear [1]. Hyperactivation of the immune system results in the overproduction of autoantibodies and in the formation of immune complexes [1]. These immune complexes are deposited in various organs and tissues, causing the symptoms seen in the clinical manifestations of SLE [1]. The function of vitamin D has been further studied and determined to include this molecule as a pleiotropic regulator of human physiology, as having a role in cancer chemoprevention, and as playing a role in cardioprotection and immune system modulation [7, 8]
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