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

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 (r = 0.438; P = 0.002). 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.

Association between vitamin D receptor polymorphisms and systemic lupus erythematosus in an Indian cohort

“…The studies on the association of VDR polymorphism with SLE or is clinical severity have been inconsistent . However, in the present study, heterozygous variants and minor alleles of Fok I and Taq polymorphism were significantly associated with SLE, but no such link was noticed between Apa I and Bsm I with disease susceptibility.…”

“…The studies on the association of VDR polymorphism with SLE or is clinical severity have been inconsistent. 22,[33][34][35][36][37][38][39][40][41][42][43][44] However, in the present study, heterozygous variants and minor alleles of FokI and Taq polymorphism were significantly associated with SLE, but no such link was noticed between ApaI and BsmI with disease susceptibility. A recent report on a Chinese cohort showed association of FokI variants (CT and TT) with susceptibility to SLE.…”

Influence of Serum Levels of Vitamins A, D, and E as well as Vitamin D Receptor Polymorphisms on Micronucleus Frequencies and Other Biomarkers of Genotoxicity in Workers Exposed to Formaldehyde

“…Studies corroborate the role of TT Bsm I genotype as a risk factor for a variety of pathologies, such as nephrolithiases, blood pressure [49], melanoma [50], higher levels of antinuclear antibodies related to systemic lupus erythematosus [51], severe coronary artery disease [52], lower levels of calcium, and type 2 diabetes mellitus [53]. Qin et al [54] reported in a subgroup analysis that the TC+TT genotypes were risk factors in ovarian cancer as compared to the CC genotype.…”

Estudo caso‐controle do polimorfismo do gene receptor da vitamina D em pacientes paquistaneses com artrite reumatoide

“…A vitamina D exerce vários efeitos imunomoduladores e, portanto, pode desempenhar algum papel no curso das doenças autoimunes. 6 Foi determinada considerável associação entre insuficiência de vitamina D e aumento da ocorrência de transtornos autoimunes. 7 Foi observado que, em pacientes com AR, os linfócitos expressam VDR.…”