Table of Contents
ISRN Endocrinology
Volume 2013 (2013), Article ID 427818, 5 pages
http://dx.doi.org/10.1155/2013/427818
Clinical Study

Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus

1Department of Biochemistry and Clinical Chemistry, Medical University of Warsaw, 02-097 Warsaw, Poland
2Department of Dermatology and Venereology, Medical University of Lodz, 94-017 Lodz, Poland
3Department of Pharmacogenomics, Medical University of Warsaw, 02-097 Warsaw, Poland

Received 13 May 2013; Accepted 7 June 2013

Academic Editors: J. Pachucki, J. A. Rillema, and H. Tamemoto

Copyright © 2013 Beata Kaleta et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.