Lack of association of vitamin D receptor gene BsmI polymorphisms in patients with systemic lupus erythematosus

Abbasi, Moslem; Rezaieyazdi, Zahra; Afshari, Jalil Tavakol; Hatef, Mohammadreza; Sahebari, Maryam; Saadati, Nayyereh

doi:10.1007/s00296-010-1504-4

Cited by 42 publications

(24 citation statements)

References 9 publications

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“…By contrast, Abbasi et al [33] reported that the distribution of the VDR BsmI genotypes and alleles did not differ significantly between patients with SLE and healthy subjects living in northeastern Iran. This research added that no association was detected between the VDR BsmI genotype and organ involvement or laboratory profiles, SLE disease activity index, and SLE damage score.…”

Section: Discussionmentioning

confidence: 94%

Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus

et al. 2016

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Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. To date, only a few studies concerned the association of the VDR gene polymorphisms with childhood-onset SLE.In this study, we aimed to investigate the BsmI polymorphisms in the VDR gene, for the first time in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a marker of susceptibility to or severity of SLE and we also measured the serum level of 25-hydroxyvitamin D (25[OH] D) to assess its relation to such polymorphism.This was a case–control study including 100 patients with SLE and matched with age, sex, and ethnicity and 100 healthy controls. All subjects were genotyped for the VDR gene BsmI polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), whereas the serum 25(OH) D levels were measured by enzyme-linked immunosorbent assay method.Compared to the contros subjects, the VDR BsmI BB genotype and B allele were overrepresented among SLE patients (odda ratio [OR]: 5.5; 95% confidence interval [CI]: 1.9–15.9; P = 0.002 and OR: 1.84; 95% CI: 1.21–2.80; P = 0.003; respectively). We found a significant association between VDR BsmI BB genotype with lupus nephritis (OR: 6.8; 95% CI: 1.18–50.5; P = 0.001). However, we did not observe any significant association of studied polymorphisms with other clinical manifestations, laboratory profiles of SLE, or disease activity score. Our data revealed no association between VDR BsmI genotypes or alleles and serum 25-hydroxyvitamin D levels among studied patients with SLE (all P > 0.05).We demonstrate for the first time, to the best of our knowledge, that the VDR BsmI gene polymorphisms may contribute to susceptibility to SLE in Egyptian children and adolescents. Moreover, we found that the BB genotype constituted a risk factor for the development of nephropathy among studied patients with SLE. However, we did not find any significant association of the VDR BsmI gene variants with other clinical manifestations, laboratory profiles of SLE, disease activity index score, or serum 25-hydroxyvitamin D levels.

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Section: Discussionmentioning

confidence: 94%

Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus

et al. 2016

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“…Our observations are consistent with the findings of Monticielo et al [18], who demonstrated no association of the BsmI and FokI polymorphisms with the development of SLE in a Brazilian-European cohort. There was also no association of the FokI VDR polymorphism with Chinese SLE patients in Taiwan, or of the BsmI VDR polymorphism with SLE in Iranian and Thai populations [15–17]. However, the BB genotype of the BsmI VDR SNP was found to be a risk factor of SLE in Taiwanese and Japanese populations [13, 14].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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Recently, several studies have demonstrated the role of vitamin D receptor (VDR) polymorphisms in the development of systemic lupus erythematosus (SLE); however, these results are inconsistent between different cohorts. Therefore, we studied the prevalence of the VDR FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236) genotypes and alleles in SLE patients (n = 258) and healthy individuals (n = 545) in a Polish population. We did not observe significant differences for either the VDR FokI, BsmI, ApaI and TaqI genotype and allele frequencies in patients with SLE and healthy individuals. However, the frequency of the VDR F/F and F/f genotypes of FokI was statistically different between patients with renal disease and patients without this symptom OR = 3.228 (1.534–6.792, p = 0.0014), pcorr = 0.0476)]. There was no association of the studied VDR BsmI, ApaI and TaqI polymorphisms with clinical manifestations and laboratory profiles in patients with SLE. Our study indicates that the studied VDR FokI variant might increase the risk of some clinical presentations in patients with SLE.Electronic supplementary materialThe online version of this article (doi:10.1007/s11033-012-2118-6) contains supplementary material, which is available to authorized users.

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“…Besides, studies on vitamin D receptor gene polymorphisms were not selected. Most of the aforementioned studies lacked emphasis on and were not powered to investigate the correlation between measured vitamin D levels (25[OH]D) and its clinical significance [6], [7], [8]. Stringent selection criteria were applied in order to achieve a high level of homogeneity in the studies included in this systematic review.…”

Section: Methodsmentioning

confidence: 99%

The Clinical Significance of Vitamin D in Systemic Lupus Erythematosus: A Systematic Review

Sakthiswary

Ali

2013

PLoS ONE

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BackgroundVitamin D deficiency is more prevalent among SLE patients than the general population. Over the past decade, many studies across the globe have been carried out to investigate the role of vitamin D in SLE from various clinical angles. Therefore, the aim of this systematic review is to summarise and evaluate the evidence from the published literature; focusing on the clinical significance of vitamin D in SLE.MethodsThe following databases were searched: MEDLINE, Scopus, Web of Knowledge and CINAHL, using the terms “lupus”, “systemic lupus erythematosus”, “SLE and “vitamin D”. We included only adult human studies published in the English language between 2000 and 2012.The reference lists of included studies were thoroughly reviewed in search for other relevant studies.ResultsA total of 22 studies met the selection criteria. The majority of the studies were observational (95.5%) and cross sectional (90.9%). Out of the 15 studies which looked into the association between vitamin D and SLE disease activity, 10 studies (including the 3 largest studies in this series) revealed a statistically significant inverse relationship. For disease damage, on the other hand, 5 out of 6 studies failed to demonstrate any association with vitamin D levels. Cardiovascular risk factors such as insulin resistance, hypertension and hypercholesterolaemia were related to vitamin D deficiency, according to 3 of the studies.ConclusionThere is convincing evidence to support the association between vitamin D levels and SLE disease activity. There is paucity of data in other clinical aspects to make firm conclusions.

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Lack of association of vitamin D receptor gene BsmI polymorphisms in patients with systemic lupus erythematosus

Cited by 42 publications

References 9 publications

Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus

Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus

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

The Clinical Significance of Vitamin D in Systemic Lupus Erythematosus: A Systematic Review

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