Vitamin D Levels, Frequency of Vitamin D Receptor Gene Polymorphisms, and Associations with Overweight and Asthma in Brazilian Schoolchildren

2019 ◽  
Vol 75 (4) ◽  
pp. 238-245 ◽  
Author(s):  
Tania Mara Rodrigues Simões ◽  
Rosangela da Silva ◽  
Bianca Bianco ◽  
Fernando Luiz Affonso Fonseca ◽  
Dirceu Solé ◽  
...  

Background: In children, nutritional status of vitamin D (vitD), frequency of vitD receptor (VDR) gene polymorphisms and their associations with overweight and asthma remain controversial. Objectives: To evaluate the nutritional status of vitD and the frequency of VDR gene polymorphisms, as well as identify their associations with nutritional status and asthma. Methods: A cross-sectional study was conducted with schoolchildren (n = 262; mean age = 8.7 ± 1.3 years). Clinical history, anthropometric measurements, and serum 25-hydroxy vitD were evaluated. Four VDR gene polymorphisms were identified and genotypes, alleles, and haplotypes were calculated. Results: The serum vitD levels were found at 85.1%, within normal range. The FokI AA genotype was more frequent in asthmatics compared to healthy controls (10 vs. 1%, p < 0.05), while the GG genotype was less frequent (45.0 vs. 55.2%, p < 0.05). The frequency of the TT allele for the ApaI was higher among asthmatic eutrophic children (60.9 vs. 29.4%, p < 0.05) and that of the TT allele for the BsmI was higher among asthmatic overweight children (35.3 vs. 4.4%, p < 0.05). Conclusions: Insufficiency in vitD was low. Two wild-type alleles (AA) of FokI were identified as risk factor for the development of asthma, while GG alleles appears to be a protective factor. To have polymorphic alleles (TT) of ApaI seems to be a risk factor for asthma in children with normal weight, while that of BsmI seems to be a risk factor for asthma in overweight condition. Serum vitD was not different among analyzed genotypes.

Author(s):  
Noelia Marquez Pete ◽  
Cristina Perez Ramirez ◽  
Maria del Mar Maldonado Montoro ◽  
Fernando Martinez Martinez ◽  
Fernando Fernández-Llimos ◽  
...  

IntroductionRheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration of the joints, leading to severe pain and functional disability. Vitamin D and its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association between VDR gene polymorphisms and risk of developing RA.Material and methodsA retrospective study was performed, including 214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqManResultsThe recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04–2.53) and GTGCA (p < 0.01; OR = 2.77; 95% CI: 1.53–4.98) for BsmI, Cdx2, FokI, ApaI and TaqI were associated with higher risk of RA.ConclusionsVDR FokI gene polymorphism showed a trend for risk of RA, taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.


2018 ◽  
Vol 76 (11) ◽  
pp. 760-766 ◽  
Author(s):  
Ana Carolina R. de Oliveira ◽  
Carolina A. Magalhães ◽  
Cristina M. G. Loures ◽  
Vanessa G. Fraga ◽  
Leonardo C. de Souza ◽  
...  

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.


Author(s):  
Ayse Kaman ◽  
Fatma Nur Öz ◽  
Gülseren Sahin ◽  
Özge Metin Akcan

Abstract Objective The vitamin D receptor gene (VDR) polymorphisms and the risk of various infections have been studied. An association with brucellosis and vitamin D levels has been investigated but not yet with VDR gene polymorphisms. We aimed to examine the association between VDR gene polymorphisms and susceptibility to childhood brucellosis. Methods This case–control study included patients with brucellosis and healthy controls. After extracting genomic DNA using a Qiagen blood DNA isolation kit, five VDR single nucleotide polymorphisms (SNPs), including Cdx-2, FokI, BsmI, ApaI, and TaqI gene, were amplified. Genetic distribution of these SNPs of VDR gene in patient and control groups were compared. Results A total of 38 patients with brucellosis and 89 healthy controls were evaluated. The genotype distribution of Cdx2, FokI, BsmI, and ApaI polymorphisms were similar between patients and healthy controls. However, the CC homozygous genotype for VDR gene TaqI was significantly overexpressed in patients compared with controls (23.7 vs. 7.9%; p = 0.042). The frequency of the C allele of the TaqI genotype was significantly different between patients and controls (p = 0.018). On the other hand, presence of the A allele in the BsmI was associated considerably with an increased risk of brucellosis (p = 0.037). VDR polymorphism distribution was similar according to age, presence of complicated disease, and presence of bacteremia. The heterozygote TaqI polymorphism was more common in patients presented as subacute and chronic symptoms (p = 0.036). Conclusion Our results indicated the possible role in TaqI polymorphism of the VDR gene for the risk of brucellosis at the time of exposure to infection.


2005 ◽  
Vol 21 (4) ◽  
pp. 191-197 ◽  
Author(s):  
Duygu Gezen Ak ◽  
Hakkí Kahraman ◽  
Erdinç Dursun ◽  
Belgin Süsleyici Duman ◽  
Nevin Erensoy ◽  
...  

Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p= 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.


Medicina ◽  
2019 ◽  
Vol 55 (5) ◽  
pp. 188 ◽  
Author(s):  
Kathryna Fontana Rodrigues ◽  
Nathalia Teixeira Pietrani ◽  
Adriana Aparecida Bosco ◽  
Maira Cândida Rodrigues de Sousa ◽  
Ieda de Fátima Oliveira Silva ◽  
...  

Background and Objectives: Vitamin D levels have been associated with a diversity of diseases, including obesity. Vitamin D presents a pleiotropic action, and can regulate insulin secretion and inflammatory responses. Vitamin D receptor (VDR) gene polymorphisms are involved in the gene expression regulation and have been associated with type 2 diabetes mellitus (T2DM). This study aimed to evaluate the association between the polymorphisms ApaI (rs7975232), BsmI (rs1544410), FokI (rs10735810), and TaqI (rs731236) in the VDR gene in people diagnosed with T2DM, and plasma 25-hydroxivitamin D levels [25(OH)D]. Materials and Methods: A total of 101 T2DM patients and 62 gender, age, and body mass index (BMI) matched non-diabetic controls were included in this study. Molecular analyzes were performed by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). The plasma 25(OH)D levels were measured by high performance liquid chromatography. Results: The plasma 25(OH)D levels were lower in T2DM patients (17.2 (16.6) ng/mL) when compared with the control subjects (30.8 (16.2) ng/mL, p < 0.0001), independently of obesity status. We found no difference between genotypic and allelic frequencies of the VDR polymorphisms when comparing the T2DM group and control group (p > 0.05 for all), and did not show any association with plasma 25(OH)D levels. Conclusions: These results suggest that T2DM is associated with lower plasma 25(OH)D levels, which are not related to BMI and VDR gene polymorphisms.


2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Lukasz Laczmanski ◽  
Izabela Laczmanska ◽  
Felicja Lwow

Abstract The observed increase in morbidity and mortality due to tobacco-related cancers, especially those in the respiratory system and esophagus, is becoming a public health challenge. Smoking cigarettes is one of the main risk factors predisposing individuals to many types of cancers. The aim of this study was to determine the role of select vitamin D receptor (VDR) gene polymorphisms as risk factors in tobacco-related cancers. The MEDLINE and ResearchGate databases were used to search for articles up to June 2017, and 12 articles including 26 studies concerning FokI, ApaI, TaqI and BsmI polymorphisms and lung, neck, head, esophageal and oral cancers were chosen. In total, 5 113 cases and 5 657 controls were included in the pooled analysis. We found a significant relationship between tobacco-related cancers and the occurrence of the “t” allele in the TaqI polymorphism of VDR. The occurrence of the “t” allele reduced the risk of tobacco-related cancers by 17% (OR = 0.83, 0.72–0.96 95% CI, p-value = 0.0114). Our analysis revealed that there is a correlation between the TaqI polymorphism of VDR and the risk of tobacco-related cancers.


Author(s):  
Ebtesam Mohamed Fahmy ◽  
Mohamed Elsayed Elawady ◽  
Sahar Sharaf ◽  
Sarah Heneidy ◽  
Rania Shehata Ismail

Abstract Background Accumulating data have suggested that vitamin D receptor (VDR) gene is a pretender gene for vulnerability to Parkinson disease (PD). This study aimed to assess the relationship of VDR gene polymorphisms (FokI and ApaI) with PD. Fifty patients suffering from PD and 50 age- and sex-matched healthy controls were included. Unified Parkinson Disease Rating Scale (UPDRS) was done to assess disease severity. Genetic testing for VDR gene single nucleotide polymorphisms (FokI and ApaI) was done using real time polymerase chain reaction (PCR) technique. Results Concerning frequency of genes and alleles for vitamin D receptor gene polymorphisms (FokI and ApaI), no statistically significant difference was found between PD patients and controls. AC genotype was associated with younger age and younger age at onset of disease compared to CC and AA genotypes of ApaI gene polymorphisms. CC genotype was significantly positively correlated with fatigue and urine incontinence. VDR gene polymorphisms were not found to be independent predictors for severity of PD after adjustment for possible confounders. Conclusion VDR gene polymorphisms are related to the clinical manifestations rather than etiology or severity of idiopathic PD.


Author(s):  
Bhettina Vieira Lopes ◽  
Vitor Linhares Ribeiro ◽  
Larissa de Oliveira Rosa Marques ◽  
Liliane Emilly dos Santos Sousa ◽  
Jacqueline Andréia Bernardes Leão-Cordeiro ◽  
...  

Abstract Introduction Crohn disease (CD) and ulcerative colitis (UC) are chronic inflammatory conditions of the gastrointestinal tract. Studies have shown that polymorphisms of the vitamin D receptor (VDR) gene may help elucidate the pathogenesis of CD. Objectives To analyze the role of VDR gene polymorphisms (ApaI, BsmI, FokI, and TaqI) in the development of CD. Methods The present study is a systematic review with meta-analysis. a total of 50 articles in English and Portuguese published from 2000 to 2020 were selected from 3 databases. The relationship between CD and the VDR gene was addressed in 16 articles. Results The TaqI polymorphism was analyzed in 3,689 patients and 4,645 control subjects (odds ratio [OR] = 0.948; 95% confidence interval [95%CI] = 0.851–1.056; p = 0.3467). The ApaI polymorphism was studied in 3,406 patients and 4,415 control subjects (OR = 1,033; 95%CI = 0.854–1.250; p = 0.7356). For FokI polymorphism, there were 2,998 patients and 4,146 control subjects (OR = 0.965; 95%CI = 0.734–1.267; p = 0.7958). Lastly, the BsmI polymorphism was analyzed in 2,981 patients and 4,477 control subjects (OR = 1,272; 95%CI = 0.748–2.161; p = 0.3743). Conclusion These four VDR gene polymorphisms were not associated with CD. Therefore, further studies with larger samples are required to corroborate or rectify the conclusions from the present meta-analysis.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
I.S Tatarnikova ◽  
L.A Shpagina ◽  
O.N Gerasimenko

Abstract   The study of the effects of vitamin D today has a high interest in the scientific community. We determined the plasma level of vitamin D and the polymorphisms of the vitamin D receptor gene (VDR rs1544410, VDR rs2228570) in patients with non-dipper hypertension. In our clinic, we examined 160 patients aged 30–60, among which a group of hypertensive patients with dipper status included 52 people, a group of hypertensive patients with non-dipper status - 53 people, a control group of 55 people without hypertention, correlating in gender and age with study groups. The 25 OH vitamin D level was lower in the hypertension groups, both dipper status - 20.5 (14.0; 23.3) ng / ml and non-dipper status 15.0 (12.0; 18.0) ng / ml compared with the control group - 26.0 (19.5; 30.5) ng / ml, p=0.003 and p&lt;0.001. The results of genotyping showed the presence of genetic features in hypertensive patients with non-dipper status compared with the hypertensive patients with dipper status and the control group at the rs2228570 locus of the VDR gene, p&lt;0.001. The total frequency of genotypes in the following groups: in the non-dipper group the G / A genotype accounts for 49.1% (26), A/A – 41.5% (22), G/G – 9.4% (5); in the dipper group the G/A genotype was 65.4% (34), A/A – 19.2% (10), G/G – 15.4% (8); in the control group G/A – 47.3% (26), A/A – 10.9% (6), G/G – 41.8% (23) for rs2228570 of the VDR gene. Statistical differences from the dipper group and the control group were not obtained in rs1544410 of the VDR gene. Further studies are needed to clarify the association between rs2228570 of the VDR gene, vitamin D levels and non-dipper status in hypertension. Funding Acknowledgement Type of funding source: None


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