scholarly journals Vitamin D receptor gene polymorphisms and risk of hepatocellular carcinoma in hepatitis C-related liver cirrhosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ghada M. Galal ◽  
Ahmad Abudeif ◽  
Nagwa Sayed Ahmed ◽  
Nahed Fathallah Fahmy ◽  
Abeer Sheneef ◽  
...  
Keyword(s):  
Vitamin D ◽  
Liver Cirrhosis ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Experimental Studies ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Abdominal Ultrasonography ◽  
Increased Risk ◽  
Significant Difference

Abstract Background HCV is a major risk factor for HCC; however, the exact mechanism of hepatocarcinogenesis is still not fully understood. Host genetic factors have been reported to play a significant role. Experimental studies support the tumor inhibitory effect of vitamin D on HCC cells. Several single nucleotide polymorphisms (SNPs) have been depicted in the vitamin D receptor (VDR) gene. We aimed to assess whether any of these polymorphisms could be significantly associated with increased risk of HCC. Results This study was conducted on 76 patients with HCV-related liver cirrhosis (48 patients had HCC on top of cirrhosis, and the other 28 had liver cirrhosis only). All patients underwent full medical history assessment, clinical examination, laboratory investigations, abdominal ultrasonography, and genotyping of the VDR gene. HCC patients had a significantly higher frequency of ApaI CC genotype compared with those patients without HCC. There is no statistically significant difference between the studied groups at any TaqI genotypes, but the carriage of the ApaI CC genotype had a significant association with liver disease severity in both patients groups compared with ApaI CA/AA genotypes. The carriage of the ApaI CC genotype was an independent predictor for HCC in HCV-related liver cirrhosis. Conclusions VDR ApaI polymorphism is significantly associated with the development of HCC; thus, ApaI CC genotype could be used as an important molecular marker to predict the risk of HCC in patients with HCV-related liver cirrhosis.

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.

scholarly journals Association of the polymorphism of the vitamin D receptor gene (VDR) with the risk of leprosy in the Brazilian Amazon

2021 ◽  
Author(s):  
Jasna Letícia Pinto Paz ◽  
Maria do Perpétuo Socorro Corrêa Amador Silvestre ◽  
Letícia Siqueira Moura ◽  
Ismari Perini Furlaneto ◽  
Yan Corrêa Rodrigues ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Mycobacterium Leprae ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Single Nucleotide ◽  
The Relationship

The transmission and evolution of leprosy depends on several aspects, including immunological and genetic factors of the host, as well as genetic factors of Mycobacterium leprae. This study evaluated the association of single nucleotide polymorphisms (SNPs) on the FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232) regions of the vitamin D receptor (VDR) gene with leprosy. A total of 405 individuals were evaluated, composed by groups of 100 multibacillary and 57 paucibacillary patients, and 248 healthy contacts. Blood samples were collected from patients and contacts. The genotyping was performed by sequencing of the interest regions. The alleles of the studied SNPs, and of SNP FokI genotypes, were not associated with leprosy. For the SNP on TaqI region, the relationship between the tt genotype, and for the SNP ApaI, the AA genotype, revealed an association with susceptibility to MB form, while Aa genotype with protection. The extended genotypes AaTT and AaTt of ApaI and TaqI were associated with protection to against MB form. Futher studies analyzing the expression of the VDR gene and the correlation with its SNPs might help to clarify the role of polymorphisms on the immune response in leprosy.

scholarly journals Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset

2001 ◽  
pp. 181-186 ◽  
Author(s):  
WZ Ye ◽  
AF Reis ◽  
D Dubois-Laforgue ◽  
C Bellanne-Chantelot ◽  
J Timsit ◽  
...  
Keyword(s):  
Vitamin D ◽  
Insulin Secretion ◽  
Vitamin D Receptor ◽  
Age Of Onset ◽  
Major Gene ◽  
Receptor Gene ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Receptor Gene Polymorphisms

OBJECTIVE: Allelic variations in the vitamin D receptor (VDR) gene were reported to modulate insulin secretion in response to glucose. VDR was investigated as a candidate gene for type 2 diabetes mellitus (T2DM). METHOD: Four single nucleotide polymorphisms (SNPs) in intron 8 (BsmI, Tru9I, ApaI) and exon 9 (TaqI) of the VDR gene were examined in 309 unrelated French subjects with T2DM and 143 controls. RESULTS: The distribution of alleles and genotypes of the four SNPs was similar in patients and controls. However, in patients whose age at diagnosis of diabetes was < or =45 years, homozygous subjects for the T-allele of the TaqI SNP had a higher body mass index (BMI) (31.7+/-6.7 kg/m2, P=0.0058) and an increased prevalence of obesity (81%, P=0.005) with respect to heterozygous subjects (27.9+/-5.0 kg/m2; 46%) or homozygous subjects for the t-allele (27.7+/-5.0 kg/m2; 52%). Similar results were observed for homozygous subjects for the b-allele of the BsmI SNP. Logistic regression analysis demonstrated that TT homozygosity was independently associated with obesity in these subjects (odds ratio, 4.64; 95% confidence interval (CI), 1.64-14.76; P=0.0056). CONCLUSION: VDR is not a major gene for T2DM in French Caucasians. However, polymorphisms in the VDR gene are associated with the susceptibility to obesity in subjects with early-onset T2DM. The pathophysiological mechanisms of these associations remain unexplained, but they could be related to a direct effect of vitamin D in adypocyte differentiation and metabolism, or to an indirect effect by modulation of insulin secretion.

scholarly journals P028 The Apa I polymorphism in the Vitamin D receptor gene is associated with a stricturing behaviour in Crohn′s disease patients

2021 ◽  
Vol 15 (Supplement_1) ◽  
pp. S143-S145
Author(s):  
L Gisbert-Ferrandiz ◽  
J Llau ◽  
J Cosin-Roger ◽  
S Coll ◽  
C Bauset ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Risk Allele ◽  
Statistical Significance ◽  
Receptor Gene ◽  
Strong Linkage Disequilibrium ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Chi Squared ◽  
Nuclear Receptor Family

Abstract Background Vitamin D receptor (VDR) is a member of the nuclear receptor family of transcription factors that plays an immunomodulatory role in the gastrointestinal tract through binding Vitamin D. Single-nucleotide polymorphisms (SNPs) in the VDR gene have been related to inflammatory bowel disease. Indeed, Crohn′s disease (CD) patients carrying the Taq I polymorphism in VDR gene run a higher risk of developing a penetrating behaviour. We analyse here the association between the VDR SNPs Taq I, Bsm I, Apa I and Fok I and the clinical characteristics of CD. Methods DNA was extracted from blood samples from 80 patients diagnosed with CD from the Hospital of Manises (Valencia). Four polymorphisms identified in the VDR gene (Bsm I, Fok I, Apa I and Taq I) were genotyped using PCR-RFLP. Clinical data for each patient, including the Montreal classification was collected. Statistical significance was done using contingency tables and measured by Chi-squared or Fisher test. Results Results reveal a strong linkage disequilibrium between Apa I, Bsm I and Taq I polymorphisms. Apa I appears next to Bsm I and it is negatively associated with Taq I. The presence of at least a risk allele for Apa I is significantly associated with a stricturing behaviour in CD patients (P=0.014, Table 1), while the ancestral genotype (WT) of Apa I was significantly associated with a penetrating behaviour (P=0.062, Table 2). Finally, the presence of the risk genotype of Apa I is associated with a non-colonic location of the disease (P=0.059, Table 3). Fok I was not significantly associated with any of the parameters analysed. Conclusion Our results in CD patients reveal that the presence of the risk allele of Apa I in the VDR genotype is associated with a stricturing behaviour and tends towards a non-colonic location of the disease. This suggests that the analysis of this polymorphism may be useful for clinicians as a prognostic factor.

scholarly journals Polymorphisms at the Ligand Binding Site of the Vitamin D Receptor Gene and Osteomalacia

2005 ◽  
Vol 21 (4) ◽  
pp. 191-197 ◽  
Author(s):  
Duygu Gezen Ak ◽  
Hakkí Kahraman ◽  
Erdinç Dursun ◽  
Belgin Süsleyici Duman ◽  
Nevin Erensoy ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Mineral Density ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
Calcium Phosphorus

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.

The Association of Vitamin D Receptor Gene Polymorphism with Lung Cancer Risk: An Update Meta-analysis

2019 ◽  
Vol 21 (10) ◽  
pp. 704-710 ◽  
Author(s):  
Zhi-Hong Yu ◽  
Miao Chen ◽  
Qing-Qian Zhang ◽  
Xun Hu
Keyword(s):  
Lung Cancer ◽  
Vitamin D ◽  
Genetic Polymorphism ◽  
Cancer Risk ◽  
Vitamin D Receptor ◽  
Lung Cancer Risk ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Increased Risk

The association between vitamin D receptor (VDR) genetic polymorphism and lung cancer risk has been evaluated by the previous meta-analyses. Due to the emergence of novel studies and inappropriate inclusion of overlapping populations, an updated meta-analysis on recent evidences is necessarily needed. We comprehensively searched databases of PubMed, Web of Science and Chinese National Knowledge Infrastructure and finally obtained 7 eligible studies according to the inclusion criteria. Four positions on VDR gene, namely ApaI (rs7975232), BsmI (rs1544410), FokI (rs10735810) and TaqI (rs731236), were considered in this investigation. Data pooling found no significant association of lung cancer risk with ApaI or FokI. In contrast, it was indicated that the BsmI A allele was negatively related to the lung cancer risk, compared with the G allele (OR = 0.51, 95% CI = 0.33-0.79). Individuals with BsmI AA (OR = 0.53, 95% CI = 0.26-1.11) and AG genotypes (OR = 0.46, 95% CI = 0.30−0.71) showed decreased risk of lung cancer, compared with those of GG genotype. Regarding the TaqI polymorphism, the T allele carriers were at increased risk of lung cancer (OR = 1.25, 95% CI = 1.04-1.50). Compared with the TaqI TC+CC genotype, the TT genotype was positively associated with lung cancer risk (OR = 1.42, 95% CI = 1.11-1.82). No publication bias was identified in any of the analysis. In conclusion, VDR genetic polymorphism may be correlated to lung cancer risk. Given limited number of the included studies, more observations are warranted to draw a safer conclusion.

scholarly journals Polymorphism of the vitamin D receptor gene in kazakh with bronchial asthma

2021 ◽  
pp. 240-245
Author(s):  
Zh. B. Dosimov ◽  
A. J. Dosimov ◽  
N. A. Gubai ◽  
W. M. Delyagin ◽  
S. V. Kim ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bronchial Asthma ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Venous Blood ◽  
Control Group ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Vdr Polymorphism ◽  
Significant Difference

Introduction. The polymorphism of the vitamin D receptor (VDR) gene is associated with bronchial asthma (BA). Based on this, studies on the prevalence of VDR polymorphism in representatives of different races and peoples with AD and in healthy people are timely.Aims. To determine the TaqI polymorphism of the vitamin D receptor gene (TT, TS and CC) in children and adolescents with a verified diagnosis of AD on the example of the Kazakh population of Western Kazakhstan.Materials and methods. The study involved 54 Kazakh children with BA (Me age 12.8 years, fluctuations range 5–17 years). The control group consisted of residents of the same region without BA: Kazakhs – 66 children, Russians – 40 children. In each of these groups, children were born in the third generation of families without mixed marriages. The examination was performed by collecting venous blood with the informed consent of the legal representative of the child/adolescent. The samples were stored at a temperature of -80 ºC until the start of the analysis with further DNA sequencing and PCR at the INVITRO laboratory.Results. In Kazakh children without BA TT alleles were recorded in 57.6%, TC – in 34.8%, CC – in 7.6%. In Russian children without BA, the TT allele was found in 35.0%, TC – 55.0%, CC – 10%. In children of Kazakhs with BA, the TT allele was in 74.0% of cases, TC in 26.0%, and CC was absent. The first stage of the study with a limited number of observations did not allow obtaining a statistically significant difference between the individual indicated groups. However, taking into account the probable protective effect of the CC allele, the differences in the frequency of the TT alleles and in total TC and CC and CC and in total TT and TC turned out to be significant: 0.000 and 0.030, respectively. When studying the distribution of alleles within the groups, it turned out that for Kazakhs in the control group and, especially, in AD, a decrease in the frequencies of TC alleles and, most clearly, CC alleles is typical.Conclusion. The protective value of the CC allele cannot be ruled out. But it is not yet possible to formulate a final opinion on the functional significance of polymorphism. Further research will help to understand the relationship between the structural features of the VDR and BA.

Vitamin D Receptor Gene Polymorphisms and the Risk of Metabolic Syndrome (MetS): A Meta-Analysis

2020 ◽  
Vol 20 ◽  
Author(s):  
Hamidreza Totonchi ◽  
Ramazan Rezaei ◽  
Shokoofe Noori ◽  
Negar Azarpira ◽  
Pooneh Mokarram ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Protective Factor ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Fixed Effect Model ◽  
Fixed Effect ◽  
Vdr Gene ◽  
Effect Model

Introduction: Several studies have assessed the association between the vitamin D receptor (VDR) polymorphism and risk of metabolic syndrome (MetS). However, the results were inconsistent and inconclusive. Therefore, we conducted a meta-analysis to clarify the exact association between the vitamin D receptor (VDR) polymorphisms and the risk of MetS. Methods: All accessible studies reporting the association between the FokI (rs2228570) or / and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232 polymorphisms of the Vitamin D Receptor and susceptibility to MetS published prior to February 2019 were systematically searched in Web of Science, Scopus, and PubMed. After that, Odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were estimated to evaluate the strength of the association in five genetic models. Results: A total of 9 articles based on four gene variations, and comprising 3348 participants with 1779 metabolic syndrome patients were included. The overall results suggested a significant association between BsmI (rs1544410) polymorphism and MetS susceptibility in recessive model (OR, 0.72, 95% CI, 0.55-0.95, fixed effect model), allelic model (OR, 0.83, 95% CI, 0.72-0.95, fixed effect model), and bb vs BB (OR, 0.65, 95% CI, 0.46-0.93, fixed effect). However, no significant association was identified between TaqI (rs731236) polymorphism, ApaI (rs7975232) polymorphism, and FokI (rs2228570) polymorphism and MetS. Conclusion: This meta-analysis suggested an association between the BsmI (rs1544410) polymorphism and MetS. Indeed, BsmI (rs1544410) acts as a protective factor in the MetS. As a result, the VDR gene could be regarded as a promising pharmacological and physiological target in prevention or treatment of the MetS.

Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction

2009 ◽  
Vol 15 (5) ◽  
pp. 563-570 ◽  
Author(s):  
JL Dickinson ◽  
DI Perera ◽  
AF van der Mei ◽  
A-L Ponsonby ◽  
AM Polanowski ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Significant Interaction ◽  
Important Determinant ◽  
Sun Exposure ◽  
Population Based ◽  
Vdr Gene ◽  
Increased Risk ◽  
Group 2

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.

FokI polymorphism of the vitamin D receptor (VDR) gene and susceptibility to tuberculosis: evidence through a meta-analysis

2021 ◽  
Author(s):  
Upendra Yadav ◽  
Pradeep Kumar ◽  
Vandana Rai
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Asian Population ◽  
Recessive Model ◽  
Dominant Model ◽  
Vdr Gene ◽  
Exact Relation ◽  
Significance Level

Abstract Background: Tuberculosis is one of the top ten causes of deaths worldwide. The deficiency of vitamin D was reported to be associated with the increased susceptibility of tuberculosis. Various previous reports were published to check the association of FokI polymorphism of the vitamin D receptor gene with tuberculosis risk. But their results were inconsistent so, we performed a meta-analysis to know the exact relation of the two.Methods: Different databases were screened up to November, 2020 with the keywords “Vitamin D receptor”, “VDR”, and “FokI”, along with “Tuberculosis” and “TB” to find the suitable articles. All the statistical analyses were performed by the Open Meta-Analyst program and all p-values were two-tailed with a significance level of 0.05.Results: No statistically significant association was observed in the allele contrast model (ORfvs.F= 1.11, 95%CI= 0.99-1.24, p= 0.05, I2= 73.46%), in the dominant model (ORff+Ffvs.FF= 1.11, 95%CI= 0.96-1.28, p= 0.14, I2= 71.39%), and in the co-dominant model (ORFfvs.FF= 1.05, 95%CI= 0.92-1.21, p= 0.41, I2= 65.97%). However, a significant association was found in the homozygote model (ORffvs.FF= 1.32, 95%CI= 1.03-1.69, p= 0.02, I2= 67.02%) and in the recessive model (ORFF+Ff vs.ff= 1.26, 95%CI= 1.03-1.54, p= 0.02, I2= 58.01%). Further analysis was performed on the bases of the ethnicity. In Asian population a significant association was found in the homozygote model (ORffvs.FF= 1.57, 95%CI= 1.12-2.21, p= 0.008, I2= 70.37%) and in the recessive model (ORFF+Ff vs.ff= 1.43, 95%CI= 1.08-1.89, p= 0.01, I2= 63.13%).Conclusion: In conclusion, a significant association of FokI with tuberculosis susceptibility was found in the overall analysis and in the Asian population.

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