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

The hormonally active form of vitamin D(3), 1,25(OH)(2)D(3) (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 affect...

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Autores principales: Kaleta, Beata, Bogaczewicz, Jarosław, Robak, Ewa, Sysa-Jędrzejowska, Anna, Wrzosek, Małgorzata, Szubierajska, Weronika, Mróz, Piotr, Łukaszkiewicz, Jacek, Woźniacka, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703334/
https://www.ncbi.nlm.nih.gov/pubmed/23853726
http://dx.doi.org/10.1155/2013/427818
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author Kaleta, Beata
Bogaczewicz, Jarosław
Robak, Ewa
Sysa-Jędrzejowska, Anna
Wrzosek, Małgorzata
Szubierajska, Weronika
Mróz, Piotr
Łukaszkiewicz, Jacek
Woźniacka, Anna
author_facet Kaleta, Beata
Bogaczewicz, Jarosław
Robak, Ewa
Sysa-Jędrzejowska, Anna
Wrzosek, Małgorzata
Szubierajska, Weronika
Mróz, Piotr
Łukaszkiewicz, Jacek
Woźniacka, Anna
author_sort Kaleta, Beata
collection PubMed
description The hormonally active form of vitamin D(3), 1,25(OH)(2)D(3) (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.
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spelling pubmed-37033342013-07-12 Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus Kaleta, Beata Bogaczewicz, Jarosław Robak, Ewa Sysa-Jędrzejowska, Anna Wrzosek, Małgorzata Szubierajska, Weronika Mróz, Piotr Łukaszkiewicz, Jacek Woźniacka, Anna ISRN Endocrinol Clinical Study The hormonally active form of vitamin D(3), 1,25(OH)(2)D(3) (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. Hindawi Publishing Corporation 2013-06-18 /pmc/articles/PMC3703334/ /pubmed/23853726 http://dx.doi.org/10.1155/2013/427818 Text en Copyright © 2013 Beata Kaleta et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Clinical Study
Kaleta, Beata
Bogaczewicz, Jarosław
Robak, Ewa
Sysa-Jędrzejowska, Anna
Wrzosek, Małgorzata
Szubierajska, Weronika
Mróz, Piotr
Łukaszkiewicz, Jacek
Woźniacka, Anna
Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
title Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
title_full Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
title_fullStr Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
title_full_unstemmed Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
title_short Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus
title_sort vitamin d receptor gene bsmi polymorphism in polish patients with systemic lupus erythematosus
topic Clinical Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703334/
https://www.ncbi.nlm.nih.gov/pubmed/23853726
http://dx.doi.org/10.1155/2013/427818
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