BSMI POLYMORPHISM (283G>A) VDR GENE AND PHOSPHORUS-CALCIUM EXCHANGE PARAMETERS

ABSTRACT Elderly people are at a high risk of developing vitamin D (VitD) deficiency due to both decreased intake and cutaneous synthesis. Most of the biological actions of VitD are mediated by the vitamin D receptor (VDR), which is present in neurons and glial cells of the hippocampus, and in the cortex and subcortical nuclei, essential areas for cognition. It is known that VDR gene polymorphisms may decrease the VDR affinity for VitD. Objective: The present study aimed to investigate the influence of VitD levels on cognitive decline in patients with dementia due to Alzheimer's disease (AD, n = 32) and mild cognitive impairment (MCI, n = 15) compared to cognitively healthy elderly (n = 24). We also evaluated the association of VDR gene polymorphisms with cognitive disturbance. Methods: Four polymorphisms on the VDR gene were studied, namely, BsmI, ApaI, FokI and TaqI, by polymerase chain reaction-restriction fragment length polymorphism. Serum levels of 25-hydroxy vitamin D (25(OH)D) were determined by high performance liquid chromatography. Results: No significant difference in 25(OH)D levels or genotypic/allelic frequencies was observed between the groups. Deficiency of 25(OH)D was more frequently observed in women. The AA/AG genotypes of the BsmI polymorphism was associated with sufficient 25(OH)D levels, while the GG genotype of this same polymorphism was associated to insufficient levels in the cognitively-impaired group (individuals with AD or MCI). Conclusions: The data obtained do not confirm the relationship between reductions of VitD levels, polymorphisms in the VDR gene, and altered cognitive function in this sample. However, the data indicate that BsmI polymorphism in the VDR gene is associated with the VitD levels in individuals with cognitive decline.

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

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20170467 ◽

2017 ◽

Vol 5 (3) ◽

pp. 811

Author(s):

Naoual El Omri ◽

Fadwa Mekouar ◽

Youssef Sekkach ◽

Mohamed Jira ◽

Mohamed El Qatni ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Clinical Manifestations ◽

Serum Vitamin ◽

Systemic Lupus ◽

Vdr Gene ◽

Bsmi Polymorphism ◽

Serum Vitamin D ◽

Vdr Gene Polymorphisms ◽

Moroccan Patients

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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Relationship between BsmI polymorphism and VDR gene methylation profile, gender, metabolic profile, oxidative stress, and inflammation in adolescents

Nutrición Hospitalaria ◽

10.20960/nh.03383 ◽

2021 ◽

Author(s):

Maria Paula de Paiva ◽

Lavoisiana Lacerda de Lucena ◽

Alexandre Sérgio Silva ◽

Rayner Anderson Ferreira do Nascimento ◽

Darlene Camati Persuhn ◽

...

Keyword(s):

Oxidative Stress ◽

Metabolic Profile ◽

Methylation Profile ◽

Gene Methylation ◽

Vdr Gene ◽

Bsmi Polymorphism

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Relationship between cardiometabolic profile, vitamin D status and BsmI polymorphism of the VDR gene in non-institutionalized elderly subjects

Experimental Gerontology ◽

10.1016/j.exger.2016.04.020 ◽

2016 ◽

Vol 81 ◽

pp. 56-64 ◽

Cited By ~ 4

Author(s):

Chahira Taha Mahd Ibrahim Issa ◽

Alexandre Sérgio Silva ◽

Luciana Tavares Toscano ◽

Marcia Silva Medeiros ◽

Darlene Camati Persuhn ◽

...

Keyword(s):

Vitamin D ◽

Elderly Subjects ◽

Vitamin D Status ◽

Vdr Gene ◽

Institutionalized Elderly ◽

Bsmi Polymorphism ◽

Cardiometabolic Profile

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A reappraised meta-analysis of the genetic association between vitamin D receptor BsmI (rs1544410) polymorphism and pulmonary tuberculosis risk

Bioscience Reports ◽

10.1042/bsr20170247 ◽

2017 ◽

Vol 37 (3) ◽

Cited By ~ 4

Author(s):

Mohammed Y. Areeshi ◽

Raju K. Mandal ◽

Sajad A. Dar ◽

Abdulrahman M. Alshahrani ◽

Aqeel Ahmad ◽

...

Keyword(s):

Vitamin D ◽

Pulmonary Tuberculosis ◽

Vitamin D Receptor ◽

Meta Analysis ◽

Genetic Models ◽

Wild Type ◽

Vdr Gene ◽

Bsmi Polymorphism ◽

Increased Risk ◽

Tuberculosis Risk

BsmI (rs1544410) polymorphism located in intron 8 at the 3′-end of the vitamin D receptor (VDR) gene is known to be involved in the regulation of mRNA stability. Many studies evaluated the possible correlation between VDR BsmI polymorphism and the risk of pulmonary tuberculosis (PTB), and reported conflicting results. In the present study, an updated meta-analysis was performed to evaluate the above-said association. PubMed, Embase, and Google Scholar web-databases were searched for the relevant studies and a meta-analysis was performed by calculating pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) for all the genetic models. A total of 19 studies comprising 3644 controls and 2635 cases were included in the present study. Overall no association of PTB in allelic contrast (b compared with B: P=0.285; OR =0.909, 95% CI =0.762–1.083), homozygous (bb compared with BB: P=0.881; OR =0.975, 95% CI =0.700–1.359), heterozygous (bB compared with BB: P=0.834; OR =1.017, 95% CI =0.872–1.185), dominant (bb compared with BB + Bb: P=0.451; OR =0.954, 95% CI =0.843–1.079) and recessive (bb + Bb compared with BB: P=0.983; OR =1.002, 95% CI =0.868–1.156) genetic models in comparison with wild-type allele and genotype BB were observed. However, variant allele (b compared with B: P=0.001; OR =2.289, 95% CI =1.661–3.154) showed increased risk of PTB in Asians. In conclusion, VDR BsmI polymorphism is not a risk factor for PTB in overall population. However, this polymorphism may be interrelated to an increased risk of PTB amongst Asians.

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Effect of vitamin D3 supplementation and influence of BsmI polymorphism of the VDR gene of the inflammatory profile and oxidative stress in elderly women with vitamin D insufficiency

Experimental Gerontology ◽

10.1016/j.exger.2015.03.011 ◽

2015 ◽

Vol 66 ◽

pp. 10-16 ◽

Cited By ~ 45

Author(s):

Isa Gabriela de Medeiros Cavalcante ◽

Alexandre Sérgio Silva ◽

Maria José Carvalho Costa ◽

Darlene Camati Persuhn ◽

ChariraTahaMad Ibraim Issa ◽

...

Keyword(s):

Oxidative Stress ◽

Vitamin D ◽

Vitamin D3 ◽

Elderly Women ◽

Vitamin D Insufficiency ◽

Vdr Gene ◽

Bsmi Polymorphism ◽

Vitamin D3 Supplementation ◽

Inflammatory Profile ◽

And Oxidative Stress

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Pseudoexfoliative glaucoma and molecular genetic characteristics of vitamin D metabolism

Ophthalmology journal ◽

10.17816/ov11219-28 ◽

2018 ◽

Vol 11 (2) ◽

pp. 19-28 ◽

Cited By ~ 1

Author(s):

Inessa S. Beletskaya ◽

Sergey Yu. Astakhov ◽

Tatiana L. Karonova ◽

Olga V. Galkina ◽

Evdokia O. Bogdanova ◽

...

Keyword(s):

Vitamin D ◽

Gene Polymorphisms ◽

Healthy Subjects ◽

Serum Levels ◽

Control Group ◽

Vdr Gene ◽

Foki Polymorphism ◽

Bsmi Polymorphism ◽

Pseudoexfoliative Glaucoma ◽

Vdr Gene Polymorphisms

Purpose. To study the possible association of 25-hydroxyvitamin D level, and vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, TaqI, FokI) with pseudoexfoliative glaucoma (PEG) clinical manifestations. Methods. We examined 160 subjects (72 males (45%), and 88 females (55%)) aged from 55 to 75 years, residents of St. Petersburg and Leningrad region. 122 patients with PEG were enrolled in the main study group, the control group comprised 38 subjects without PEG, primary open angle glaucoma (POUG) and pseudoexfoliation syndrome (PES). 25(OH)D serum levels were assessed by chemiluminescent immunoassay (CLIA) method. Detection of VDR gene allele polymorphisms (ApaI, BsmI, FokI, and TaqI) was carried out using polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) technique. Results. Patients with PEG had lower 25(OH)D serum levels compared to patients in the control group (39.3 ± 1.2 and 52.7 ± 2.1 nMol/l, respectively, p < 0.01). The prevalence of vitamin D deficiency was found to be higher among PEG patients than among healthy subjects (86.4% and 59.5%, respectively, p < 0.01). The prevalence of b allele (p < 0.001) and bb genotype (p < 0.001) (BsmI polymorphism), as well as of f allele and ff genotype (p < 0.05) (FokI polymorphism) in PEG patients were higher compared to healthy subjects. We found that the Fallele carriers (FokI polymorphism) had greater corneal thickness than the ff genotype carriers (547.3 ± 4.1 μm and 502.1 ± 25.8 μm, respectively, p < 0.01). It was revealed, that bb genotype, Bb genotype (BsmI polymorphism), and ff genotype (FokI polymorphism) were associated with the increased risk of PEG (OR = 8.2, CI 95%: 3.4-19.9; OR = 3.9, CI 95%: 1.7-9.0; OR = 2.3, CI 95%: 1.2-4.5, respectively). Conclusions. Results of this study for the first time ever showed the association between BsmI and FokI VDR gene polymorphisms and pseudoexfoliative glaucoma.

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The Significance of VDR Genetic Polymorphisms in the Etiology of Preeclampsia in Pregnant Polish Women

Diagnostics ◽

10.3390/diagnostics11091698 ◽

2021 ◽

Vol 11 (9) ◽

pp. 1698

Author(s):

Justyna Magiełda-Stola ◽

Grażyna Kurzawińska ◽

Marcin Ożarowski ◽

Tomasz M. Karpiński ◽

Krzysztof Drews ◽

...

Keyword(s):

Control Group ◽

Nucleotide Polymorphisms ◽

Vdr Gene ◽

Single Nucleotide ◽

Marker Haplotype ◽

Bsmi Polymorphism ◽

Homozygous Genotype ◽

Increased Risk ◽

Pcr Rflp ◽

First Time

For the first time in the Polish population, we aimed to investigate associations between the VDR gene single-nucleotide polymorphisms (SNPs) BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) and the development of preeclampsia (PE). A case–control study surveyed 122 preeclamptic and 184 normotensive pregnant women. The polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method was performed to examine the maternal VDR FokI, BsmI, TaqI, and ApaI polymorphisms. The VDR BsmIAA homozygous genotype was statistically significantly more frequent in preeclamptic women compared to the control group (p = 0.0263), which was also associated with a 2-fold increased risk of PE (OR = 2.06, p = 0.012). A correlation between the VDR BsmI polymorphism with systolic and diastolic blood hypertension was noted. Furthermore, 3-marker haplotype CTA (TaqI/ApaI/BsmI) was associated with significantly higher systolic (p = 0.0075) and diastolic (p = 0.0072) blood pressure. Association and haplotype analysis indicated that the VDR BsmI A allele could play a significant role in the PE pathomechanism and hence could be a risk factor for PE development in pregnant Polish women. These results indicate the importance of the VDR BsmI polymorphism and reveal that this variant is closely associated with a higher predisposition to hypertension.

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