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

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.

Vitamin D receptor (VDR) gene polymorphisms and susceptibility to systemic lupus erythematosus clinical manifestations

Lupus ◽  
2013 ◽  
Vol 22 (11) ◽  
pp. 1110-1117 ◽  
Author(s):  
J de Azevêdo Silva ◽  
K Monteiro Fernandes ◽  
JA Trés Pancotto ◽  
T Sotero Fragoso ◽  
EA Donadi ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Lupus Erythematosus ◽  
Gene Polymorphisms ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

scholarly journals Serum vitamin D and vitamin D receptor gene FokI polymorphisms in children with tuberculosis

2015 ◽  
Vol 55 (5) ◽  
pp. 263 ◽  
Author(s):  
Ariesta Karmila ◽  
Muhammad Nazir ◽  
Kiagus Yangtjik ◽  
Yuwono Yuwono
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Serum Vitamin ◽  
Control Group ◽  
Case Group ◽  
Vdr Gene ◽  
Foki Polymorphism ◽  
Serum Vitamin D ◽  
Vdr Gene Polymorphisms ◽  
Control Serum

Background Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms are strongly associated with tuberculosis (TB) susceptibility in countries with four seasons. As a country with sufficient sunlight for vitamin D production in skin, the incidence of TB in Indonesia remains high. Objective To assess for possible associations between the incidence of tuberculosis and serum vitamin D level, as well as VDR FokI polymorphisms in children. Methods A case-control study was conducted at the Department of Child Health, Dr. Mohammad Hoesin Hospital, Palembang from November 2011 to April 2012. Subjects were children with TB (the case) and children without TB who had been exposed to TB in the home (the control). Serum vitamin D [1,25(OH)2D3 or calcitriol] level was measured by immunodiagnostic system (IDS) 1,25-dihydroxy vitamin D enzyme immunoassay (EIA) kit. The VDR FokI polymorphisms were identified by polymerase chain reaction (PCR) and restriction-fragment length polymorphism (RFLP) analysis. Results Sixty subjects was divided equally into the case and control groups. The mean serum calcitriol level in the case group was significantly lower than that of the control group [105.5 (SD 66.9) pmol/L vs. 162.9 (SD 52.9) pmol/L, respectively; (P=0.001)]. We found 9 subjects with calcitriol deficiency, 8 in the TB group and 1 in the healthy contact group (OR 10.5; 95%CI 1.2 to 90.7) The VDR FokI polymorphism was seen in 28 subjects in the case group and 22 in the control group (OR 5.0; 95%CI 0.9 to 26.4). Conclusion Vitamin D (calcitriol) deficiency and lower serum levels are associated with higher risk of TB in children. The VDR gene FokI polymorphism also contributes to susceptibility for TB.

scholarly journals BsmI polymorphism in the vitamin D receptor gene is associated with 25-hydroxy vitamin D levels in individuals with cognitive decline

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 ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cognitive Decline ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Bsmi Polymorphism ◽  
Vitamin D Levels ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
25 Hydroxy Vitamin D

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.

Association between vitamin D receptor (VDR) gene polymorphisms and systemic lupus erythematosus in Portuguese patients

Lupus ◽  
2015 ◽  
Vol 24 (8) ◽  
pp. 846-853 ◽  
Author(s):  
C Carvalho ◽  
A Marinho ◽  
B Leal ◽  
A Bettencourt ◽  
D Boleixa ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Lupus Erythematosus ◽  
Gene Polymorphisms ◽  
Systemic Lupus ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

scholarly journals Significant association between Taq1 gene polymorphism in vitamin D receptor and chronic spontaneous urticaria in the Northeast of Iran

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Maryam Khoshkhui ◽  
Farzaneh Iravani ◽  
Farahzad Jabbari-Azad ◽  
Hadi Zare Marzouni ◽  
Jalil Tavakkol-Afshari ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Odds Ratio ◽  
Serum Vitamin ◽  
Chronic Spontaneous Urticaria ◽  
Unknown Etiology ◽  
Control Group ◽  
Vdr Gene ◽  
Serum Vitamin D

Abstract Objective Chronic spontaneous urticaria (CSU) is defined as urticaria with an unknown etiology which persists for more than 6 weeks. CSU is an uncomfortable cutaneous condition that occurs due to an immune-mediated inflammatory reaction. Many studies have demonstrated that vitamin D deficiency and single-nucleotide polymorphisms in the vitamin D receptor (VDR) impact the immune response. In the current study, the frequency of the Taq1 polymorphism in the VDR gene were compared between patients with CSU and individuals without CSU. Methods In a case–control study, a group of CSU patients (n = 100) was compared with a group of healthy age- and gender-matched individuals as a control group (n =100) who visited our center between 2015 and 2017. After DNA extraction from EDTA-containing blood, polymerase chain reaction (PCR–RFLP) was used to determine the presence of the Taq1 polymorphism. Serum vitamin D levels were measured using ELISA method (Abcam, Cambridge, USA). Results Genotyping for Taq1 polymorphism showed that TT, Tt and tt genes frequency in the CSU group were 36%, 54%, and 10% respectively. The TT, Tt and tt genotypes had a distribution of 50%, 47% and 3% respectively in the control group. The mean serum vitamin D level in the CSU group was 19.88 ± 8.14 ng/ml, which was not significantly correlated with the Taq1 polymorphism (P = 0.841). There was a significant relationship between Taq1 gene polymorphism (tt genotype) and CSU (P = 0.038). Tt genotype increased the risk of CSU (odds ratio = 1.596), and inheritance of tt genotype increased the risk even further (odds ratio = 4.630). Conclusion The frequency of Taq1 genotype polymorphism in the VDR gene was significantly higher in patients with CSU compared to the control group. The tt genotype polymorphism may be a risk factor for CSU.

scholarly journals Study of vitamin D receptor gene polymorphisms in a cohort of myocardial infarction patients with coronary artery disease

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Damir Raljević ◽  
Viktor Peršić ◽  
Elitza Markova-Car ◽  
Leon Cindrić ◽  
Rajko Miškulin ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Vitamin D ◽  
Coronary Artery ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Vdr Polymorphism ◽  
Vdr Gene Polymorphisms ◽  
Vdr Polymorphisms

Abstract Background Vitamin D deficiency is associated with cardiovascular diseases, including coronary artery diseases (CAD). As vitamin D manifests its biological function through its vitamin D receptor (VDR), VDR gene polymorphisms potentially affect VDR functionality and vitamin D activity. Therefore, the objective of this study was to analyze three well-studied VDR gene polymorphisms—Fok1 (rs2228570), BsmI (rs1544410) and Taq1 (rs731236)—in a cohort of CAD patients after acute myocardial infarction. Methods In the presented cross-sectional study, 155 participants with CAD after acute myocardial infarction and 104 participants in a control group without CAD were enrolled. The participants in both groups were Caucasians of European origin. The genotyping of VDR polymorphisms rs2228570, rs1544410 and rs731236 was assessed by RT-PCR. Results The results show an association between the T/T genotype of the BsmI (rs1544410) and the G/G genotype of the Taq1 (rs731236) VDR polymorphism and CAD patients after acute myocardial infarction. There was no association between the Fok1 (rs2228570) VDR polymorphism and CAD patients after acute myocardial infarction. Conclusion The presented results suggest a potential association of the BsmI (rs1544410) and Taq1 (rs731236) VDR polymorphisms with CAD patients after myocardial infarction.

scholarly journals The Vitamin D Receptor (VDR) Gene Polymorphisms in Turkish Brain Cancer Patients

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Bahar Toptaş ◽  
Ali Metin Kafadar ◽  
Canan Cacina ◽  
Saime Turan ◽  
Leman Melis Yurdum ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cancer Patients ◽  
Vitamin D Receptor ◽  
Brain Cancer ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Increased Risk ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
Healthy Control

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.

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