%0 Journal Article
%T Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
%A Beata Kaleta
%A Jaros£¿aw Bogaczewicz
%A Ewa Robak
%A Anna Sysa-J£¿drzejowska
%A Ma£¿gorzata Wrzosek
%A Weronika Szubierajska
%A Piotr Mr¨®z
%A Jacek £¿ukaszkiewicz
%A Anna Wo£¿niacka
%J ISRN Endocrinology
%D 2013
%R 10.1155/2013/427818
%X The hormonally active form of vitamin D3, 1,25(OH)2D3 (calcitriol), exerts actions through VDR receptor, which acts as a transcriptional factor. Calcitriol is an immunomodulator that affects various immune cells, and several studies link it to many autoimmune diseases. BsmI polymorphism affects the level of VDR gene transcription, transcript stability, and posttranscriptional modifications. It seems to be related to the systemic lupus erythematosus (SLE). Our study examined the characteristics of VDR gene BsmI polymorphism in Polish SLE patients and their relationship with clinical manifestations of the disease. We genotyped 62 patients with SLE and 100 healthy controls using the real-time PCR. There were no differences observed in the frequency of BsmI genotypes in SLE patients and in the control group. There was no significant correlation between BsmI genotypes and clinical symptoms of SLE, but the AA genotype correlates with higher levels of antinuclear antibodies (ANA) in this group ( ; ). A larger study examining BsmI and other VDR gene polymorphisms is needed. It may allow explaining differences in the clinical picture of the disease and choosing a personalized therapy. 1. Introduction Systemic lupus erythematosus is a chronic antibody-mediated autoimmune disorder. The etiology of SLE is still unknown, but many studies demonstrate association between the disease and genes which are crucial to immunological response [1, 2]. Active form of vitamin D, 1,25(OH)2D3, exerts action by binding to the VDR (vitamin D receptor) which acts as a ligand-dependent transcriptional factor. VDR are present not only in tissues related to calcium-phosphorus homeostasis (bone, skin, kidneys, and intestine) but also in nonclassical tissues, among others immune cells [3, 4]. The VDR protein is synthesized from a gene known as VDR which is highly polymorphic. The most significant polymorphisms for VDR activity are FokI (rs2228570) and BsmI (rs1544410). BsmI polymorphism is located in intron 8 and affects the level of VDR gene transcription, transcript stability, and posttranscriptional modifications [5¨C10]. VDR are present in nearly all immune cells. 1,25(OH)2D3 blocks B cell differentiation and proliferation, enhances chemotactic and phagocytotic capacity of macrophages, inhibits DC maturation, and modulates DC-derived cytokine and chemokine expression, by inhibiting production of IL-12, IL-23 and enhancing release of IL-10. In addition vitamin D inhibits the surface expression of MHC-II-complexed antigen and costimulatory molecules, affects T cells response, inhibits
%U http://www.hindawi.com/journals/isrn.endocrinology/2013/427818/