FGF 23, PTH and vitamin D status in end stage renal disease patients affected by VDR  Fok I and  Bsm I variants

Bouksila, Mouna; Kaabachi, Wajih; Mrad, Mehdi; Smaoui, Wided; Kateb, Elhem Cheour El; Zouaghi, M.K.; Hamzaoui, Kamel; Bahlous, Afef

doi:10.1016/j.clinbiochem.2018.02.009

Cited by 10 publications

(12 citation statements)

References 43 publications

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“…Interestingly, in patients with chronic renal failure, the VDR genetic profile seems to perturb the FGF23 expression and consequently the physiological action of FGF23 mediated by FGF receptor and co-receptor Klotho [37].…”

Section: Discussionmentioning

confidence: 99%

Vitamin D Receptor Polymorphisms in Sex-Frailty Paradox

et al. 2020

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The “male-female health-survival paradox” evidences that the survival advantage observed in women is linked to higher rates of disability and poor health status compared to men, a phenomenon also called the “sex-frailty paradox”. The depletion of vitamin D seems to play a role in the fragilization of old persons, and genetic polymorphisms of the vitamin D receptor (VDR) gene seem to be involved in regulating the vitamin D pathway. This study correlated the VDR gene polymorphisms (FokI, ApaI, BsmiI, and TaqI) with frailty, computed by frailty index (FI), in 202 persons (127 women and 75 men, aged from 60 to 116 years), aiming to capture the involvement of vitamin D in the sex-frailty paradox. The results showed slightly higher FI (p = 0.05), lower levels of 25(OH)D (p = 0.04), and higher levels of parathyroid hormone PTH (p = 0.002) and phosphorus (p < 0.001) in women than in men. Interestingly, the ApaI minor allele (Aa + aa) showed a significant positive association with FI (p = 0.03) and a negative association with inorganic phosphorus values (p = 0.04) compared to AA genotype only in women, regardless of age. The exact mechanism and the causal role that, in old women, links ApaI polymorphism with frailty are still unclear. However, we could speculate that a specific genetic profiling, other than 25(OH)D levels, play a role in the sex-frailty paradox.

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Section: Discussionmentioning

confidence: 99%

Vitamin D Receptor Polymorphisms in Sex-Frailty Paradox

et al. 2020

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“…The length of the amino acid sequence changes, and the first initiation codon loses its translation function when the mutation occurs. The translation of VDR begins in the second codon, resulting in the lack of 3 amino acids during the activation domain of VDR protein positions, and the VDR protein that lacks the 3 amino acids easily activates its effector genes [30, 31]. These indicate that the VDR receptor is more active in C allele carriers versus TT homozygotes.…”

Section: Discussionmentioning

confidence: 99%

Impact of Vitamin D and Vitamin D Receptor on Risk of Cardiovascular Diseases in Children and Adolescents with Obesity in Sichuan, China: A Cross-Sectional Study

Xie

Min²,

Guo

et al. 2020

Ann Nutr Metab

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Background: Previous studies have demonstrated the close relationship between vitamin D, vitamin D receptor (VDR), and obesity. Nevertheless, few studies have reported wherther the relationship among these is associated with the risk of cardiovascular diseases (CVDs) in Chinese children and adolescents. Objective: The present study aimed to reveal the effects of obesity, serum vitamin D levels, and VDR FokI genotype on the risk of CVDs in children and adolescents in Sichuan, China. Methods: Children and adolescents were recruited into a cross-sectional study. Serum vitamin D levels, serum lipid levels, and VDR FokI gene polymorphisms were measured in the laboratory. The selected lipid factors were used as biomarkers of CVD risk. The impact of obesity, vitamin D levels and VDR FokI genotype on CVD risk factors were investigated. Results: Higher lipid levels were observed in children and adolescents in the obese group, when compared to the nonobese group. In the obese group, the C allele carriers had significantly lower concentrations of lipids, when compared to the TT genotype. C allele carriers who were vitamin D deficient had lower levels of total cholesterol (TC), triglycerides (TG), apolipoprotein B (Apo-B), total cholesterol/high-density lipoprotein cholesterol (TC/HDL-C), low-density lipoprotein cholesterol/high-density lipoprotein cholesterol (LDL-C/HDL-C), and triglycerides/high-density lipoprotein cholesterol (TG/HDL-C), when compared to those with the TT genotype in obese children and adolescents. For vitamin D-insufficient obese children and adolescents, the TC, Apo-B, and TC/HDL-C in the C allele carriers were significantly lower, when compared to those in the TT genotype in obese children and adolescents. Conclusion: Obese children with low vitamin D levels, who are carriers of the C allele of the FokI gene, have lower levels of several biochemical markers of CVD risk, when compared to those who were TT homozygous. Obese children and adolescents may benefit from vitamin D supplementation, terms of lowering their CVD risk, particularly when they are carriers of the C allele of the FokI gene.

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“…The biomarker used also represents a methodological bias that may affect study results: 25(OH)D and 1,25(OH) 2 D have been associated with different findings (Engelman et al, ). Regarding the regulation of CYP27B1 expression (genes METTL21B , METTL1 , FGF23 , and PTH ), which is thought to influence VDR (Bouksila et al, ), METTL21B variant rs141172155 was observed only in two patients with MS from type‐B families. We did not detect any METTL1 variant associated with MS (Alcina et al, ).…”

Section: Discussionmentioning

confidence: 99%

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing

et al. 2019

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Introduction Vitamin D (VD) deficiency has been associated with multiple sclerosis (MS) and other autoimmune diseases (AIDs). However, the effect of the genetics of VD on the risk of MS is subject to debate. This study focuses on genes linked to the VD signaling pathway in families with MS. The evaluation of gene variants in all the members of families could contribute to an additional knowledge on the information obtained from case‐control studies that use nonrelated healthy people. Material and Methods We studied 94 individuals from 15 families including at least two patients with MS. We performed whole‐exome next generation sequencing on all individuals and analyzed variants of the DHCR7, CYP2R1, CYP3A4, CYP27A1, GC, CYP27B1, LRP2, CUBN, DAB2, FCGR, RXR, VDR, CYP24A1, and PDIA3 genes. We also studied PTH, FGF23, METTL1, METTL21B, and the role of the linkage disequilibrium block on the long arm of chromosome 12, through analysis of the CDK4, TSFM, AGAP2, and AVIL genes. We compared patients with MS, other AIDs and unaffected members from different family types. Results The study described the variants in the VD signaling pathway that appear in families with at least two patients with MS. Some infrequent variants were detected in these families, but no significant difference was observed between patients with MS and/or other AIDs and unaffected family members in the frequency of these variants. Variants previously associated with MS in the literature were not observed in these families or were distributed similarly in patients and unaffected family members. Conclusion The study of genes involved in the VD signaling pathway in families that include more than one patient with MS did not identify any variants that could explain the presence of the disease, suggesting that VD metabolism could probably play a role in MS more as an environmental factor rather than as a genetic factor. Our study also supports the analysis of cases and unaffected individuals within families in order to determine the influence of genetic factors.

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FGF 23, PTH and vitamin D status in end stage renal disease patients affected by VDR Fok I and Bsm I variants

Cited by 10 publications

References 43 publications

Vitamin D Receptor Polymorphisms in Sex-Frailty Paradox

Vitamin D Receptor Polymorphisms in Sex-Frailty Paradox

Impact of Vitamin D and Vitamin D Receptor on Risk of Cardiovascular Diseases in Children and Adolescents with Obesity in Sichuan, China: A Cross-Sectional Study

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing

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