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 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 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.

scholarly journals Phenotypic manifestations of arterial hypertension according to polymorphism of vitamin D receptor gene

2021 ◽  
Vol 25 (1(97)) ◽  
pp. 89-94
Author(s):  
Yu. Repchuk ◽  
L. Sydorchuk
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Arterial Hypertension ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Control Group ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Qualitative Polymerase Chain Reaction ◽  
Vdr Gene Polymorphism

Objective. To determine the phenotypic manifestations of essential arterial hypertension (EAH) according to the vitamin D receptor gene polymorphism (VDR rs10735810, rs2228570).Material and methods. The case-control study involved 100 patients with EAH stage II, 1-3 degrees of blood pressure (BP), high and very high cardiovascular risk, 21% (21) men, 79% (79) women. The mean age of patients was 59.86 ± 6.22 y.o. The control group consisted of 60 healthy individuals, comparable in age and gender. To study the VDR gene polymorphism (rs10735810, rs2228570) performed a qualitative polymerase chain reaction in real-time. Results. Almost half of the patients with elevated normal BP (44.4%) and 34% of patients with EAH 2-3 d. there is concomitant diabetes mellitus (DM) type 2, while for EAH 1 d. it is only 19%. Obesity of 1-3 degrees was shown in 53% of patients with EAH: average EAH of 1 d. - 21%, among the EAH 2-3 d. - 25%. In the control group, 16% suffered from obesity. The distribution of VDR gene polymorphism genotypes according to the presence of DM showed that it was present in 35% of patients with AA-genotype, which is 1.6 times more often than in patients with GG-genotype (22%). Most smokers among patients with GG-genotype (26%), which is twice as common as those with AA- and AG-genotype (13% and 14%, respectively). Obesity of 1-3 degrees most often met among carriers of GG-genotype - 74%, and in the control group 14%. An elevated level of waist-hip ratio (WHR) among women with EAH was in 80% of the AA-genotype carriers, in the control group, all women had normal values. In 76% of the AG-genotype carriers and in 81% of the GG-genotype carriers, the WHR was increased by 2.3 and 2.8 times, respectively, that in the control group. Deviations of systolic and diastolic BP according to the VDR gene polymorphic variants have not been established.Conclusions. The AA-genotype is associated with DM 2 and with elevated WHR in women; GG-genotype - with elevated BMI, especially in men.

Vitamin D Receptor Gene Polymorphism as a Risk Factor for Chronic Periodontitis

2021 ◽  
Author(s):  
Nurlindah Hamrun ◽  
Muhammad Ruslin ◽  
Erni Marlina ◽  
Sri Oktawati ◽  
Takashi Saito ◽  
...  
Keyword(s):  
Vitamin D ◽  
Risk Factor ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Chronic Periodontitis ◽  
Control Group ◽  
Case Group ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism ◽  
Vdr Gene Polymorphisms

Abstract Background: The aim of this study was to investigate vitamin D receptor (VDR) gene polymorphism as a risk factor associated with chronic periodontitis (CP) and to determine the effect of VDR gene polymorphism on phenotypic CP.Methods: This study is a case-control design that included 162 adults divided into two groups: patients with CP (case group) and patients without CP (control group). Venous blood and DNA were obtained from individual samples. The gene polymorphism was determined using Restricted Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR) and DNA sequencing to identify endonuclease restrictions in exon 9 (TaqI). The data were analyzed using an independent t-test and Fisher’s exact test. The odds ratio (OR) was used to calculate the risk of VDR gene polymorphism in CP. Results: VDR gene polymorphism was detected in patients with CP and a TT genotype (86.4%), Tt genotype (12.4%), and tt genotype (1.2%). The case group with TT and Tt genotypes had an OR of 12.5 (95% CI:1.6–99.8) of having CP compared to the control group (P<0.05).Conclusions: VDR gene polymorphisms (the TT and Tt genotypes) are risk factors associated with individual susceptibility to CP.

scholarly journals Association of Vitamin D with the TaqI Polymorphism of the VDR Gene in Older Women Attending the Basic Health Unit of the Federal District, DF (Brazil)

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Renata de Souza Freitas ◽  
Caroline Ferreira Fratelli ◽  
Calliandra Maria de Souza Silva ◽  
Luciano Ramos de Lima ◽  
Marina Morato Stival ◽  
...  
Keyword(s):  
Vitamin D ◽  
Elderly Population ◽  
Serum Vitamin ◽  
Federal District ◽  
Hypovitaminosis D ◽  
Control Group ◽  
Case Group ◽  
Vdr Gene ◽  
Serum Vitamin D ◽  
Taqi Polymorphism

Aging is accompanied by various functional modifications determined by their environment, lifestyle, nutrition, and genetics. Based on these factors, it is essential to verify the vitamin deficiency in the elderly population. Hypovitaminosis D is commonly present in human aging, increasing the chances of developing noncommunicable chronic diseases. The VDR gene TaqI polymorphism may modify the vitamin D metabolic pathway by altering the interaction between the vitamin D receptor and the active circulating vitamin D. Therefore, this study aimed to investigate the association between serum vitamin D and biochemical and genetic factors, considering the TaqI polymorphism of the VDR gene, in an elderly population of the Federal District. The study was a descriptive, case-control, quantitative, and cross-sectional type and was conducted in two basic health units in the administrative region of Ceilândia, Federal District, DF, Brazil, with women aged 60 years or older. Anthropometric, biochemical, and genetic parameters (VDR TaqI polymorphism) were evaluated. The adopted significance level was 5%, and statistical analyses were performed using the SPSS version 20.0 program. The study consisted of 128 participants. The most prevalent age was from 60 to 65 years (N = 53; 41.4%). 66 elderly (51.6%) were part of the case group (hypovitaminosis D), while 62 were in the control group. In the case group, 30.2% had grade I obesity, 77.3% were hypertensive, and 51.5% were diabetic. The TT genotype was present in 47% of the case group and 54.8% in the control group (p=0.667). There was no association between serum vitamin D levels and the VDR gene variant TaqI polymorphism in an elderly Brazilian population.

scholarly journals Clinical significance of vitamin d receptor gene polymorphism in children with bronchial asthma

2021 ◽  
pp. 51-56
Author(s):  
N. L. Potapova ◽  
A. I. Markovskaya ◽  
I. N. Gaymolenko
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Bronchial Asthma ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Pulmonary Ventilation ◽  
Control Group ◽  
Genotype Distribution ◽  
Vdr Gene ◽  
Asthma In Children

Introduction. The development of chronic allergic inflammation of the respiratory tract is determined by various genes. It is assumed that the clinical features of the course of bronchial asthma may be associated with singlet polymorphism of the vitamin D receptor.Аim. To analyze the frequency of occurrence of polymorphic variants of the VDR-63980G>A gene and evaluate their association with the features of the development and course of bronchial asthma in children.Materials and methods. To study the association of the VDR-63980G>A gene polymorphism with bronchial asthma in children, 154 patients with bronchial asthma aged 1 to 18 years and 116 healthy subjects were selected. The objective status of the patients was assessed with the clarification of the anamnesis, standard laboratory and instrumental examination. Single nucleotide substitutions were typed by polymerase chain reaction with real-time detection of the results. The genotype distribution was evaluated using the “Gen-Expert” program.Results. As a result of the association analysis, the relationship of VDR-63980G>A with bronchial asthma in children was established. The presence of genotype -63980AA of the VDR gene increases the risk of developing bronchial asthma in a child by 1.85 times (OR=1.85, [CI 1.02-3.38]; χ 2=4.22, p=0.04). The homozygous genotype -63980GG was more common in the control group – in 49.5% versus 45.4% against the sick children. The genotype of the minor homozygote -63980AA is associated with the early onset of the disease, pronounced obstructive pulmonary ventilation disorders.Conclusion. The association of genotype -63980AA of the VDR gene with the risk of asthma development in preschool children was revealed. 

scholarly journals Role of Vitamin D Receptor in Prediabetes

2020 ◽  
Vol 10 (1) ◽  
pp. 20-25
Author(s):  
Simmi Kharb ◽  
Kanika Goel ◽  
Rajesh Rajput
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Serum Vitamin ◽  
Receptor Protein ◽  
Control Group ◽  
Vitamin D Receptors ◽  
Serum Vitamin D ◽  
Protein Levels ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D

Background: Recent epidemiological evidence points towards the potential association of vitamin D insufficiency with adverse metabolic risk and in the pathogenesis of cancer, cardiovascular diseases, type 2 diabetes and other diseases. Vitamin D exerts its action in a variety of cell types through vitamin D receptors. No reports are available in the literature regarding vitamin D and vitamin D receptor status in prediabetics. The present study was planned to compare serum 25-hydroxy vitamin D [25(OH)D] and vitamin D receptor (VDR) protein levels in prediabetic cases and normoglycemic controls. Methods: The present study was conducted in 80 persons who were divided into two groups, Study group (n= 40) comprised of diagnosed cases of prediabetes and control group (n=40) comprised of healthy normoglycemic controls. Serum 25-hydroxy vitamin D [25(OH)D] was analyzed by radioimmunoassay (RIA). Serum vitamin D receptor (VDR) protein was analyzed by sandwich enzyme immunoassay (ELISA). Results: Serum 25(OH) vitamin D levels were significantly decreased in prediabetic cases as compared to normoglycemic controls [p<0.001]. Serum Vitamin D receptor protein levels were highly significantly decreased in prediabetic cases as compared to normoglycemic controls [p<0.00]. Serum 25(OH)D levels showed a highly significant positive correlation with serum VDR levels in both the groups [p<0.001 at both levels]. Conclusion: The findings of the present study indicate that vitamin D and VDR can serve as a possible screening marker and target for modulation of the management and alleviating the progress and complications of diabetes.

scholarly journals Vitamin D Receptor Gene Polymorphism: An Important Predictor of Arthritis Development

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Maryam Mukhtar ◽  
Nadeem Sheikh ◽  
Saira Kainat Suqaina ◽  
Andleeb Batool ◽  
Naz Fatima ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Active Form ◽  
Disease Onset ◽  
Serum Vitamin ◽  
Biologically Active ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism ◽  
Anti Inflammatory

Vitamin D is an anti-inflammatory molecule and has a role in prevention of arthritis development. Biologically active form 1, 25(OH)2D3 of vitamin D can only exert its action after binding its definite vitamin D receptor encoded by VDR gene. VDR gene polymorphism leads to dysfunctioning of 1, 25(OH)2D3 ultimately disease onset. The purpose of current study was to evaluate the effect of vitamin D level and VDR gene polymorphism on rheumatoid arthritis and osteoarthritis. Blood samples were collected from case and control after taking written consent. Serum was separated and vitamin D level as determined from each sample by ELISA. DNA was extracted from each blood sample and amplified by using gene specific primers. Genotyping was performed by Sangers sequencing and PCR-RFLP technique. It was found that vitamin D level was not significantly different among patients and controls. The rs10735810, rs1544410, rs7975232, and rs731236 were associated with the onset of arthritis at both allelic and genotypic level (p < 0.01). Nucleotide change on rs10735810 site leads to change of tryptophan with arginine. The frequencies of haplotype CGAT, CGGA, CGGT, CTAA, CTAT, TGAA, TGAT, TGGA, and TTGA were higher in patients and act as risk factors of RA onset, whereas haplotypes CGAT, CGAT, CGGT, CTGA, TGAT, TGGA, TTAA, and TTGA were associated with OA onset. In conclusion, serum vitamin D level may be normal among arthritis patients but polymorphism on VDR gene restricts vitamin D to perform its anti-inflammatory function by altering the 1, 25(OH)2 D3 binding sites.

scholarly journals Vitamin D and vitamin D receptor in patients with ophthalmic pterygium

2017 ◽  
Vol 61 (4) ◽  
Author(s):  
Cristina Maxia ◽  
Daniela Murtas ◽  
Michela Corrias ◽  
Ignazio Zucca ◽  
Luigi Minerba ◽  
...  
Keyword(s):  
Vitamin D ◽  
Epithelial Cells ◽  
Vitamin D Receptor ◽  
Regulation Of Gene Expression ◽  
Serum Vitamin ◽  
Control Group ◽  
Serum Vitamin D ◽  
Inhibition Of Angiogenesis ◽  
Benign Process ◽  
Apoptotic Pathways

Pterygium, an ultraviolet radiation (UV)-related disease, is a relatively benign process, but since it displays tumor-like features, it has been proposed to be a neoplastic- like growth disorder. Vitamin D performs a number of functions in addition to calcium homeostasis, as inhibition of cell proliferation, activation of apoptotic pathways, and inhibition of angiogenesis. Since the antitumor actions of vitamin D are mediated primarily through the nuclear vitamin D receptor (VDR), the aim of the present study was to investigate vitamin D status in patients with pterygium and in control subjects, and VDR immunohistochemical expression in samples of pterygium and normal conjunctiva in order to evaluate a possible role of vitamin D pathway in the pathogenesis of the disease. Serum vitamin D concentration was measured among 41 patients with pterygium and 47 volunteers by an automated chemiluminescence immunoassay. Moreover, 23 formalin- fixed and paraffin-embedded pterygium biopsy samples and 24 conjunctiva specimens were treated for the immunohistochemical demonstration of VDR using the streptavidin-biotin alkaline phosphatase method. No differences were observed about vitamin D level between patient with pterygium and control group, but significant differences between VDR immunolocalization in pterygium and normal conjunctiva were observed (P=0.00001). In conjunctiva, the immunoreactivity, localized mainly in cytoplasm of epithelial cells, may probably demonstrate VDR regulation of cell growth, differentiation, and apoptosis, while in pterygium VDR co-localization in the nucleus and cytoplasm of epithelial cells may indicate alternative nuclear pathways by which vitamin D might exert its antiinflammatory and anti-proliferative effects by the regulation of gene expression.

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