Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus

Mostowska, Adrianna; Lianeri, Margarita; Wudarski, Mariusz; Olesińska, Marzena; Jagodzińśki, Paweł P.

doi:10.1007/s11033-012-2118-6

Cited by 52 publications

(48 citation statements)

References 45 publications

(58 reference statements)

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“…The known influence of VDR on the immune response [6,7,8] may have contributed to or even accounted for the impact of the VDR rs2228570 polymorphism on allergy. Previous observations revealed an influence of the FokI VDR polymorphism on prevalance and/or clinical course of asthma [27,28], immune type 1 diabetes [77], multiple sclerosis [31], systemic lupus erythematosus [78], graft rejection [79], ulcerative colitis [40], aggressive periodontitis [30] and dengue hemorrhagic fever [80]. …”

Section: Discussionmentioning

confidence: 99%

Impact of Vitamin D Receptor VDR rs2228570 Polymorphism in Oldest Old

Glocke

Läng

Schaeffeler

et al. 2013

Kidney Blood Press Res

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Background: Calcitriol, a key player in the regulation of mineral metabolism, influences, directly or by increasing plasma Ca²⁺ and phosphate levels, a multitude of physiological functions, such as bone mineralization, cell proliferation, immune response, carbohydrate metabolism, blood pressure, platelet reactivity, gastric acid secretion, cognitive function and mood. Calcitriol is mainly effective by stimulation of the Vitamin D receptor VDR. The responsiveness of VDR may be affected by gene variants, such as the FokI polymorphism (rs2228570). The GG gene variant is expected to be more active than the GA or AA gene variant. The present study explored the impact of VDR rs2228570 on survival and health of oldest old individuals (> 90 years). Methods: 101 individuals > 90 years were examined and genotyped. As a result, the prevalence of GG, GA & AA was 36 (10 ♂, 26♀), 52 (24 ♂, 28♀) and 13 (4 ♂, 9♀), respectively, a prevalence not significantly different from the frequency in public available dbSNP and a population (n = 208) of young volunteers (average age 49 years). Results: As compared to carriers of GG, carriers of AA and/or GA displayed significantly (p<0.05) lower diastolic blood pressure (significant only in ♂), higher instrumental activity of daily life (IADL) score and more frequent hospital visits (significant only in ♂), significantly lower prevalence of depression (significant in ♀+♂), renal disease (significant only in ♀), allergy, peptic ulcer and urolithiasis (significant only in ♂), as well as significantly higher prevalence of transitoric ischemic attacks. In a younger population a German version of the NEO-FFI, allowing reliable and valid assessment of personality, revealed decreased neuroticism (significant only in ♂) and increased extraversion in AA carriers. Conclusion: The Vitamin D receptor gene variant VDR rs2228570 has only little impact on life span but may affect a variety of pathophysiologically relevant functions including mood.

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Section: Discussionmentioning

confidence: 99%

Impact of Vitamin D Receptor VDR rs2228570 Polymorphism in Oldest Old

Glocke

Läng

Schaeffeler

et al. 2013

Kidney Blood Press Res

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“…The identification of vitamin D receptors (VDR) in macrophages, keratinocytes, endothelial and neoplasmatic cells has revealed new extra-bony mechanisms of vitamin D activity, including immunomodulating and antiproliferative functions (Jurutka et al 2007;Myszka and Klinger 2014). The results of the most recent studies indicate that vitamin D deficiency greatly increases the risk of developing and modifying the course of several autoimmunologically related diseases, including: lupus erythematosus, rheumatoid arthritis, asthma, inflammatory bowel diseases, multiple sclerosis and type I diabetes (Cantorna et al 2004;Cantorna 2006;Kamen et al 2006;Mok et al 2012;Mostowska et al 2013;Pelajo et al 2010;Petri et al 2013).…”

Section: Introductionmentioning

confidence: 99%

Vitamin D and Its Relevance in the Etiopathogenesis of Oral Cavity Diseases

Ślebioda

Szponar

Dorocka‐Bobkowska

2016

Arch. Immunol. Ther. Exp.

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Vitamin D belongs to a group of fat-soluble secosteroids which assume many roles in the human organism. In humans the most important forms are vitamin D3 and vitamin D2. Their primary function is the regulation of the calcium and phosphorus balance, which promote the growth of healthy bony tissue. Studies over the past few years have revealed a much wider role of vitamin D involving the aging processes, carcinogenesis, the carbohydrate balance as well as the effects on the course of various infections. In this paper we discuss the basic functions of vitamin D in the human body and the mechanisms of its activity and we summarize recent reports on the impact of vitamin D on the oral cavity with a special emphasis on autoimmunologic diseases, including: recurrent aphthous stomatitis, Behçet syndrome and Sjögren syndrome.

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“…Present results are consistent with the findings of previous published studies, who reported no association of the BsmI polymorphism with the development of SLE in the Brazilian, Iranian, Thai, and European populations. 9,20,21 It is difficult to explain the divergence of these results, but it is may be due to group size, gene-gene interactions, and environmental factors.…”

Section: Resultsmentioning

confidence: 99%

“…More than 63 polymorphisms have been described; among the most studied polymorphisms, BsmI, FokI, TaqI and ApaI may be responsible in part for variations in the immune balance. 9,10 The purpose of this study is to test, for the first time in Morocco, for the presence of an association between VDR gene BsmI (rs1544410) polymorphism and susceptibility to SLE patients. We also measured the serum level of 25 (OH)D3 to assess its relation to such polymorphism.…”

Section: Introductionmentioning

confidence: 99%

Serum vitamin D and vitamin D receptor gene polymorphism in Moroccan patients with systemic lupus erythematosus

et al. 2017

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Background: Vitamin D plays an important role in the immunomodulation and could be involved in the development of autoimmune diseases such as systemic lupus erythematous (SLE). The study of the polymorphism of the Vitamin D Receptor (VDR) gene may be of interest in explaining the pathophysiology of SLE.Methods: In this study, we aimed to examine the characteristics of VDR gene BsmI polymorphism for the first time in Moroccan patients with SLE and their relationship with clinical manifestations of the disease. We also measured the serum level of 25-hyroxyvitamin D3 to assess its relation to such polymorphism.Results: The study included 66 SLE patients and 91 healthy controls. Our results showed that there were no differences observed in VDR genotypes and allelic distribution within the two groups. Both groups were in Hardy-Weinberg equilibrium, with no significant P values for the observed and expected genotype frequencies. 25-hyroxyvitamin D3 serum levels were the same in the two groups.Conclusions: Based on the results of the present study. We cannot verify any association between VDR gene BsmI polymorphism and SLE. This polymorphism could not be regarded as a genetic marker of the SLE. A larger study examining BsmI and other VDR gene polymorphisms is needed.

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Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus

Cited by 52 publications

References 45 publications

Impact of Vitamin D Receptor VDR rs2228570 Polymorphism in Oldest Old

Impact of Vitamin D Receptor VDR rs2228570 Polymorphism in Oldest Old

Vitamin D and Its Relevance in the Etiopathogenesis of Oral Cavity Diseases

Serum vitamin D and vitamin D receptor gene polymorphism in Moroccan patients with systemic lupus erythematosus

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