scholarly journals ANALYSIS OF THE VITAMIN D RECEPTOR BSMI GENE POLYMORPHISM IN CHILDREN WITH GROWTH HORMONE DEFICIENCY

2021 ◽  
Vol 74 (3) ◽  
pp. 498-503
Author(s):  
Elena V. Bolshova ◽  
Mariana A. Ryznychuk ◽  
Dmitry A. Kvacheniuk

The aim: The objective of the study was to investigate the polymorphism of the vitamin D receptor (VDR) BsmI gene in children with growth hormone deficiency and the level of their vitamin D supply. Materials and methods: Sixteen children diagnosed with of growth hormone deficiency who were treated at the State Institution «V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine» were examined. The patient’s gender and age, the anthropometric data, the vitamin D level in the blood, the bone age, the GH level, the IGF-1 levels, the level of calcium in the blood and VDR gene polymorphism were taken into account. Results: It was shown that in the presence of the G/A genotype, the risk of growth hormone deficiency development was increased OR = 1,096 (95% CI 0.39-3.02; p = 0.86). For BsmI, mean values of height, body mass, height SDS, serum 25(OH)D, in the studied population (16 children) were 123.49 ± 19.62 cm, 26.96 ± 11.11 kg, -2.25 ± 0.85, 48.86 ± 16.71 nmol/l, respectively; total calcium level consisted of 2.40 ± 0.12 mmol/l, serum phosphorus – 1.43 ± 0.11 mmol/l. Conclusions: The allele frequency of the VDR BsmI polymorphism was 62.5% for the G allele (n = 20) and 37.5% for the allele A (n = 12). The G allele carrier of the polymorphic locus BsmI rs1544410 of the VDR gene (rs11568820) is associated with an increased risk of growth hormone deficiency development OR = 1.31 (95% CI 0.62-2.75; p = 0.47).

2019 ◽  
Author(s):  
Danyal Imani ◽  
Bahman Razi ◽  
Morteza Motallebnezhad ◽  
Ramazan rezaei

Abstract Background The association between the vitamin D receptor ( VDR ) gene polymorphism and the risk of Multiple sclerosis (MS) has been evaluated in several studiese. However, the findings were inconsistent and inconclusive.Methods All relevant studies reporting the association between the FokI (rs2228570) or/and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232) polymorphisms of the VDR and susceptibility to multiple sclerosis published up to September 2019 were identified by comprehensive systematic database search in web of science, Scopus, and PubMed.Results A total of 30 case–control studies were included in this meta-analysis. The overall results suggested a significant association between TaqI gene polymorphism and MS risk under heterozygote contrast (OR = 1.27, 95%CI = 1.01–1.59, REM). Moreover, the pooled results of subgroup analysis decline presence of significant association under all defined genotype model. In subgroup analysis, BsmI gene polymorphism was associated with increased risk of MS under the recessive model in Asian population. In other hand, ApaI gene polymorphism was associated with decreased risk of MS under recessive and homozygote contrast (aa vs AA) models in Asian population.Conclusions This meta-analysis suggested a significant association between TaqI gene polymorphism and MS susceptibility. Furthermore, BsmI gene polymorphism was associated with an increased risk of MS in Asian population. In contrast, ApaI gene polymorphism was associated with a decreased risk of MS in Asian population. Future large scale studies on gene–environment and gene– gene interactions are required to estimate related risk factors and assist early diagnosis of patients at high risk for MS.


2009 ◽  
Vol 15 (5) ◽  
pp. 563-570 ◽  
Author(s):  
JL Dickinson ◽  
DI Perera ◽  
AF van der Mei ◽  
A-L Ponsonby ◽  
AM Polanowski ◽  
...  

Multiple studies have provided evidence for an association between reduced sun exposure and increased risk of multiple sclerosis (MS), an association likely to be mediated, at least in part, by the vitamin D hormonal pathway. Herein, we examine whether the vitamin D receptor ( VDR), an integral component of this pathway, influences MS risk in a population-based sample where winter sun exposure in early childhood has been found to be an important determinant of MS risk. Three polymorphisms within the VDR gene were genotyped in 136 MS cases and 235 controls, and associations with MS and past sun exposure were examined by logistic regression. No significant univariate associations between the polymorphisms, rs11574010 ( Cdx-2A > G), rs10735810 ( Fok1T >  C), or rs731236 ( Taq1C > T) and MS risk were observed. However, a significant interaction was observed between winter sun exposure during childhood, genotype at rs11574010, and MS risk ( P = 0.012), with the ‘G’ allele conferring an increased risk of MS in the low sun exposure group (≤2 h/day). No significant interactions were observed for either rs10735810 or rs731236, after stratification by sun exposure. These data provide support for the involvement of the VDR gene in determining MS risk, an interaction likely to be dependent on past sun exposure.


2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Bahar Toptaş ◽  
Ali Metin Kafadar ◽  
Canan Cacina ◽  
Saime Turan ◽  
Leman Melis Yurdum ◽  
...  

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP).Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles.Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.


2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Dorota Wójcik ◽  
Leszek Szalewski ◽  
Elżbieta Pietryka-Michałowska ◽  
Janusz Borowicz ◽  
Elżbieta Pels ◽  
...  

Vitamin D deficiency is a common risk factor for multifactorial diseases, and it seems to be associated with growth hormone deficiency (GHD). Vitamin D could prevent dental caries. The goal of this study was to identify whether there is an association between hormonal therapy with growth hormone (GH), vitamin D3 supplementation, vitamin D3 levels, and the occurrence of caries among children affected by GHD. The study group consisted of patients from the Department of Endocrinology and Diabetology of the University Paediatric Hospital at the Medical University of Lublin treated with recombinant human GH for pituitary GHD. It was conducted between October 2014 and June 2015. The study group included 121 children and adolescents aged 6 to 18 years, with 56 children from rural areas and 65 from urban areas. The study group was stratified by the area of residence. We found the statistically significant impact of vitamin D3 concentration on the average value of the DMFT (decayed, missed, and filled teeth) index and its component—DT (decayed teeth), which was noted in subjects from rural areas. Among patients from urban areas, we found a statistically significant correlation between duration of therapy and the DMFT index. An increase in duration of GH therapy by 10 months leads to a mean increase in DMFT index by 0.70. Based on multiple regression analysis, we developed the following model: value of DT = 3.10 − 0.73∗category of vitamin D3 concentration − 0.07∗duration of supplementation (in months). In this model, variables with a significant impact on the value of DT in the group of patients from rural areas include time of vitamin D3 supplementation and category of vitamin D3 concentration. Greater emphasis should be placed on promoting vitamin D3 as a potentially effective agent reducing the number of dental caries, especially among patients with GHD.


2020 ◽  
Vol 43 (10) ◽  
pp. 1485-1492
Author(s):  
T. Durá-Travé ◽  
F. Gallinas-Victoriano ◽  
P. Moreno-González ◽  
M. Urretavizcaya-Martinez ◽  
S. Berrade-Zubiri ◽  
...  

Endocrine ◽  
2015 ◽  
Vol 52 (1) ◽  
pp. 111-119 ◽  
Author(s):  
Maria Cristina Savanelli ◽  
Elisabetta Scarano ◽  
Giovanna Muscogiuri ◽  
Luigi Barrea ◽  
Laura Vuolo ◽  
...  

2020 ◽  
Vol 1 (4) ◽  
pp. 12-19
Author(s):  
Sergeeva E.G ◽  
Ionova Z.I

Purpose The goals of the present study were to assess the genotypic and allelic distribution of Bsm-I (rs1544410) and Apa-I (rs7975232) polymorphisms of the vitamin D receptor (VDR) gene in coronary artery disease (CAD) patients in comparison to control patients of the same age without CAD and to determine whether these gene variants are associated with dyslipidemia. Materials and Methods Based on a case-control design, 302 hospitalized patients with CAD and 194 people of comparable age without CAD were enrolled in the study. The BsmI and ApaI polymorphisms of VDR gene were studied using polymerase chain reaction followed by restriction analysis. The allele digested by the restriction enzyme was denoted by a lower letter, whereas that not digested was indicated by a capital letter. Determination of the level of vitamin D and immunoreactive insulin in the blood serum was carried out using the immuno-enzyme method. Results The bb genotype of Bsm-I VDR gene polymorphism was detected more often in patients with CAD than in the comparison group with an increased risk of CAD by 1.52 times (p=0.006, OR=1.52(1.05÷2.2). The level of HDL cholesterol was higher in CAD patients − carriers of BB genotype compared to its level in Bb genotype carriers and bb genotype carriers (1,13±0,05 mmol/l, 1,01±0,03 mmol/l, 1,02±0,03 mmol/l respectively, p<0,05). The level of vitamin D was higher in patients with BB genotype compared to its level in bb genotype carriers (45.12±3.73 nmol / l and 34.16±1.95 nmol/l respectively, p=0.008). The occurrence of a allele of Apa-I VDR gene polymorphism was higher in patients with CAD than in the control group (p=0.02, OR=1.21(0.93÷1.57). HDL cholesterol level was higher in CAD patients - AA genotype carriers compared with carriers of Aa and aa genotypes (1.18±0.08 mmol / l, 1,02±0.02 mmol / l and 1.01±0.03 mmol/l respectively, p<0,05). Immunoreactive insulin level was significantly higher in CAD patients – aa genotype carriers. No differences in LDL cholesterol and triglycerides were found. Vitamin D level was lower in CAD patients - Aa and aa genotype carriers (33,8±33,9 nmol/l ,p=0,02 and 24,7±4,9 nmol/l, p=0,05 respectively in comparison to vitamin D level = 43,3 ±4,2 nmol/l in AA genotype carriers). Conclusion The bb genotype of Bsm-I VDR gene polymorphism is associated with an increased risk of CAD. A carriage of b allele in CAD patients is associated with lower level of vitamin D and HDL cholesterol. A carriage of a allele of Apa-I VDR gene polymorphism in CAD patients is associated with lower level of vitamin D and HDL cholesterol.


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