scholarly journals Vitamin D Receptor Gene Polymorphism and Vitamin D Status in Population of Patients with Cardiovascular Disease—A Preliminary Study

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 3117
Author(s):  
Mohamed Abouzid ◽  
Marlena Kruszyna ◽  
Paweł Burchardt ◽  
Łukasz Kruszyna ◽  
Franciszek K. Główka ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Plasma Concentrations ◽  
Vitamin D Metabolites ◽  
Vdr Polymorphism ◽  
Hydroxyvitamin D ◽  
Increased Risk ◽  
25 Hydroxyvitamin D ◽  
The Difference

The association between vitamin D receptor (VDR) polymorphism and the risk of cardiovascular diseases (CVD) remains unclear. This study aimed to assess a relationship between the VDR genotypes, plasma concentrations of vitamin D metabolites, and the occurrence of cardiovascular and metabolic disorders. Fifty-eight patients treated for various cardiological afflictions were included. Identification of VDR polymorphisms: ApaI, TaqI, BsmI, and FokI were carried out using the PCR-RFLP method. Plasma concentrations of 25-hydroxyvitamin-D2, 25-hydroxyvitamin-D3, and 3-epi-25-hydroxyvitamin D3 were assessed by the UPLC-MS/MS method. Lower incidence of BsmI AA genotype in the studied patients was observed compared with healthy controls, but the difference was insignificant. Among patients with the TT genotype, frequency of hypertension was higher than among carriers of other ApaI genotypes (p < 0.01). In addition, carriers of the TT ApaI, TC TaqI, and GA BsmI genotypes had an increased risk of obesity, while the presence of the FokI TT genotype was associated with a higher incidence of heart failure and hypertension. In conclusion, the BsmI AA genotype can be protective against CVD, but this observation needs study on a larger group of patients. Particular VDR genotypes were associated with 25-hydroxyvitamin-D levels, and the mechanism of this association should be further investigated.

scholarly journals Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment

2016 ◽  
Vol 37 (5) ◽  
pp. 521-547 ◽  
Author(s):  
Peter J. Tebben ◽  
Ravinder J. Singh ◽  
Rajiv Kumar
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Active Form ◽  
Elevated Serum ◽  
Diagnosis And Treatment ◽  
Vitamin D Metabolites ◽  
Hydroxyvitamin D ◽  
Dihydroxyvitamin D ◽  
Stone Formers ◽  
25 Hydroxyvitamin D

AbstractHypercalcemia occurs in up to 4% of the population in association with malignancy, primary hyperparathyroidism, ingestion of excessive calcium and/or vitamin D, ectopic production of 1,25-dihydroxyvitamin D [1,25(OH)2D], and impaired degradation of 1,25(OH)2D. The ingestion of excessive amounts of vitamin D3 (or vitamin D2) results in hypercalcemia and hypercalciuria due to the formation of supraphysiological amounts of 25-hydroxyvitamin D [25(OH)D] that bind to the vitamin D receptor, albeit with lower affinity than the active form of the vitamin, 1,25(OH)2D, and the formation of 5,6-trans 25(OH)D, which binds to the vitamin D receptor more tightly than 25(OH)D. In patients with granulomatous disease such as sarcoidosis or tuberculosis and tumors such as lymphomas, hypercalcemia occurs as a result of the activity of ectopic 25(OH)D-1-hydroxylase (CYP27B1) expressed in macrophages or tumor cells and the formation of excessive amounts of 1,25(OH)2D. Recent work has identified a novel cause of non-PTH-mediated hypercalcemia that occurs when the degradation of 1,25(OH)2D is impaired as a result of mutations of the 1,25(OH)2D-24-hydroxylase cytochrome P450 (CYP24A1). Patients with biallelic and, in some instances, monoallelic mutations of the CYP24A1 gene have elevated serum calcium concentrations associated with elevated serum 1,25(OH)2D, suppressed PTH concentrations, hypercalciuria, nephrocalcinosis, nephrolithiasis, and on occasion, reduced bone density. Of interest, first-time calcium renal stone formers have elevated 1,25(OH)2D and evidence of impaired 24-hydroxylase-mediated 1,25(OH)2D degradation. We will describe the biochemical processes associated with the synthesis and degradation of various vitamin D metabolites, the clinical features of the vitamin D-mediated hypercalcemia, their biochemical diagnosis, and treatment.

scholarly journals Associations between vitamin D receptor genotypes and mortality in a cohort of older Dutch individuals

2011 ◽  
Vol 164 (1) ◽  
pp. 75-82 ◽  
Author(s):  
Renate T de Jongh ◽  
Paul Lips ◽  
Kelly J Rijs ◽  
Natasja M van Schoor ◽  
Mark H H Kramer ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Mortality Risk ◽  
Dna Analysis ◽  
Osteoporotic Fractures ◽  
Population Based ◽  
Vdr Polymorphism ◽  
Hydroxyvitamin D ◽  
Increased Risk ◽  
Haplotype 1

ContextVitamin D receptor (VDR) polymorphisms are associated with a variety of diseases, which may translate into an effect on mortality.ObjectiveTo investigate the associations betweenVDRgene variants and mortality among older people.DesignThe analyses were conducted in a population-based, prospective cohort of the Longitudinal Aging Study Amsterdam. Adequate DNA analysis was performed in 923 men and women (≥65 years). We aimed to assess the associations between mortality and the VDR polymorphismFokI, three haplotypes of theCdx2andGATApolymorphisms, and three haplotypes of theBsmI,ApaI, andTaqIpolymorphisms.ResultsDuring the median follow-up of 10.7 years, 480 participants deceased (51%). Homozygosity for theCdx2–GATAhaplotype 1 allele was associated with a 30% higher mortality risk compared to the absence of alleles (hazard ratios (HR) 1.30, 95% confidence intervals (CI) 1.01–1.68). Adjustment for cardiovascular risk factors and 25-hydroxyvitamin D levels did not affect this HR. The number of copies of theCdx2–GATAhaplotype 1 allele was associated, although not significantly, with an increased risk of osteoporotic fractures (0 copies=reference, HR, 95% CI: 1 copy 2.01, 0.99–4.07 and 2 copies 1.81, 0.87–4.18). After adjustment for osteoporotic fractures, homozygosity for theCdx2–GATAhaplotype 1 allele was no longer associated with higher mortality risk (HR 1.08, 95% CI 0.83–1.41).ConclusionsTheCdx2–GATAhaplotype 1 allele was related to increased mortality risk, which may be partly explained by osteoporotic fractures. As the biological mechanism is uncertain and this study size is limited, our results should be interpreted as hypothesis generating.

scholarly journals Coronary artery vitamin D receptor expression and plasma concentrations of 25-hydroxyvitamin D

2012 ◽  
Vol 19 (9) ◽  
pp. 967-973 ◽  
Author(s):  
Peter F. Schnatz ◽  
Matthew Nudy ◽  
David M. O’Sullivan ◽  
Xuezhi Jiang ◽  
J. Mark Cline ◽  
...  
Keyword(s):  
Vitamin D ◽  
Coronary Artery ◽  
Vitamin D Receptor ◽  
Plasma Concentrations ◽  
Receptor Expression ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D

scholarly journals Prediagnostic Plasma 25-Hydroxyvitamin D and Pancreatic Cancer Survival

2016 ◽  
Vol 34 (24) ◽  
pp. 2899-2905 ◽  
Author(s):  
Chen Yuan ◽  
Zhi Rong Qian ◽  
Ana Babic ◽  
Vicente Morales-Oyarvide ◽  
Douglas A. Rubinson ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Vitamin D ◽  
Plasma Level ◽  
Vitamin D Receptor ◽  
Statistical Significance ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Single Nucleotide ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D

Purpose Although vitamin D inhibits pancreatic cancer proliferation in laboratory models, the association of plasma 25-hydroxyvitamin D [25(OH)D] with patient survival is largely unexplored. Patients and Methods We analyzed survival among 493 patients from five prospective US cohorts who were diagnosed with pancreatic cancer from 1984 to 2008. We estimated hazard ratios (HRs) for death by plasma level of 25(OH)D (insufficient, < 20 ng/mL; relative insufficiency, 20 to < 30 ng/mL; sufficient ≥ 30 ng/mL) by using Cox proportional hazards regression models adjusted for age, cohort, race and ethnicity, smoking, diagnosis year, stage, and blood collection month. We also evaluated 30 tagging single-nucleotide polymorphisms in the vitamin D receptor gene, requiring P < .002 (0.05 divided by 30 genotyped variants) for statistical significance. Results Mean prediagnostic plasma level of 25(OH)D was 24.6 ng/mL, and 165 patients (33%) were vitamin D insufficient. Compared with patients with insufficient levels, multivariable-adjusted HRs for death were 0.79 (95% CI, 0.48 to 1.29) for patients with relative insufficiency and 0.66 (95% CI, 0.49 to 0.90) for patients with sufficient levels (P trend = .01). These results were unchanged after further adjustment for body mass index and history of diabetes (P trend = .02). The association was strongest among patients with blood collected within 5 years of diagnosis, with an HR of 0.58 (95% CI, 0.35 to 0.98) comparing patients with sufficient to patients with insufficient 25(OH)D levels. No single-nucleotide polymorphism at the vitamin D receptor gene met our corrected significance threshold of P < .002; rs7299460 was most strongly associated with survival (HR per minor allele, 0.80; 95% CI, 0.68 to 0.95; P = .01). Conclusion We observed longer overall survival in patients with pancreatic cancer who had sufficient prediagnostic plasma levels of 25(OH)D.

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