scholarly journals Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis

2021 ◽  
Author(s):  
Noelia Marquez Pete ◽  
Cristina Perez Ramirez ◽  
Maria del Mar Maldonado Montoro ◽  
Fernando Martinez Martinez ◽  
Fernando Fernández-Llimos ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Gene Polymorphisms ◽  
Haplotype Analysis ◽  
Functional Disability ◽  
Receptor Gene ◽  
Unknown Etiology ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms ◽  
Receptor Gene Polymorphisms

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.

scholarly journals Vitamin D receptor gene polymorphisms and idiopathic Parkinson disease: an Egyptian study

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Ebtesam Mohamed Fahmy ◽  
Mohamed Elsayed Elawady ◽  
Sahar Sharaf ◽  
Sarah Heneidy ◽  
Rania Shehata Ismail
Keyword(s):  
Vitamin D ◽  
Parkinson Disease ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Younger Age ◽  
Vdr Gene Polymorphisms ◽  
Receptor Gene Polymorphisms

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.

scholarly journals Immunological analysis of vitamin D receptor gene expression in Egyptian patients with rheumatoid arthritis: relation to disease activity and functional disability

2020 ◽  
Vol 47 (1) ◽  
Author(s):  
Nevine Mohannad ◽  
Eman Saad Nassar ◽  
Mai Moaaz ◽  
Rehab Elnemr ◽  
Eman Anwar Sultan
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Expression ◽  
Vitamin D ◽  
Disease Activity ◽  
Vitamin D Receptor ◽  
Functional Disability ◽  
Receptor Gene ◽  
Roc Curve Analysis ◽  
Vdr Gene ◽  
Egyptian Patients

Abstract Background Vitamin D (vit D) deficiency has recently been associated with risk of development of rheumatoid arthritis (RA). The aim of this research was to assess vitamin D receptor (VDR) gene expression in Egyptian patients with RA and its relation with the inflammatory state, disease activity, and functional disability. Results RA patients had significantly lower vit D level and VDR gene expression compared to controls (mean ± 17.0 ± 6.65, 20.73 ± 8.42 ng/ml, p < 0.05 and 3.29 ± 5.47, 14.22 ± 12.60, p < 0.001 respectively). Receiver operating characteristic (ROC) curve analysis for VDR gene expression in RA patients revealed (area under the curve 0.826, cutoff value for low VDR expression 1.05 ng/ml). Patients with low VDR expression had significantly higher ESR, CRP, double positive RF+ anti-CCP+, DAS28, and MHAQ (p < 0.001, p = 0.001, p < 0.05, p < 0.001, p < 0.001) respectively. Conclusion Vitamin D and VDR expression are significantly lower in RA patients than controls. Patients with low VDR gene expression had significantly higher disease activity and disability. This may suggest that apart from low vit D levels, low VDR expression is associated with inflammatory process and it has a potential role in RA pathogenesis and prognosis. Further multicenter studies are needed to confirm these findings.

Vitamin D Receptor Gene Polymorphisms in Childhood Brucellosis in Turkish Children

2021 ◽  
Author(s):  
Ayse Kaman ◽  
Fatma Nur Öz ◽  
Gülseren Sahin ◽  
Özge Metin Akcan
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Vdr Gene ◽  
Taqi Polymorphism ◽  
Vdr Gene Polymorphisms

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.

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.

scholarly journals Vitamin D and VDR Gene Polymorphisms’ Association with Rheumatoid Arthritis in Lithuanian Population

Medicina ◽  
2021 ◽  
Vol 57 (4) ◽  
pp. 346
Author(s):  
Egle Punceviciene ◽  
Justina Gaizevska ◽  
Rasa Sabaliauskaite ◽  
Lina Venceviciene ◽  
Alina Puriene ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Disease Activity ◽  
Vitamin D Deficiency ◽  
Gene Polymorphisms ◽  
Disease Risk ◽  
University Hospital ◽  
Healthy Controls ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

Background and Objectives: Rheumatoid arthritis (RA) is a chronic, inflammatory, autoimmune, multi-factorial disease, in which environmental and genetic factors play a major role. RA is possibly linked to vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms, and research demonstrates that FokI variant susceptibility is associated with increased disease risk among Caucasians. The aim of this study was to evaluate vitamin D deficiency prevalence and its correlation to RA clinical parameters, and to determine the possible association of VDR gene polymorphisms and RA susceptibility in the Lithuanian population. Materials and Methods: Overall, 206 RA patients and 180 age- and sex-matched healthy controls were enrolled at Vilnius University Hospital Santaros Klinikos after informed consent was obtained. The disease activity score 28 C-reactive protein (DAS28 CRP), rheumatoid arthritis impact of disease (RAID) score, and health assessment questionnaire (HAQ) were recorded in RA patients, and 25(OH)D serum levels were evaluated by chemiluminescent microparticle immunoassay for all subjects. Four VDR gene polymorphisms, BsmI, FokI, ApaI, and TaqI, were assessed using real-time PCR instruments and genotyping assays in both groups. Results: The study registered a high prevalence of 25(OH)D deficiency (<50 nmol/L) in RA patients (61.55% (n = 127)). The mean serum concentration in RA patients (44.96 ± 21.92 (nmol/L)) was significantly lower than in the healthy controls (54.90 ± 22.82 (nmol/L)), p < 0.0001. A significant inverse correlation between vitamin D level, DAS28 CRP, and HAQ scores was confirmed in RA patients, with p < 0.05. Still, there was no significant association between the overall risk of RA disease for any allele or genotype of the four VDR loci tested. Conclusions: The study confirmed that vitamin D deficiency is prevalent among RA patients and the 25(OH)D level is significantly lower compared with healthy controls. Lower vitamin D concentration was related with increased disease activity and disability scores. However, genetic analysis of four VDR polymorphisms did not confer the susceptibility to RA in Lithuanian population.

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 ◽  
...  
Keyword(s):  
Vitamin D ◽  
Risk Factor ◽  
Nutritional Status ◽  
Gene Polymorphisms ◽  
Protective Factor ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Cross Sectional ◽  
Vitamin D Levels ◽  
Vdr Gene Polymorphisms

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.

scholarly journals Association of select vitamin D receptor gene polymorphisms with the risk of tobacco-related cancers – a meta-analysis

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Lukasz Laczmanski ◽  
Izabela Laczmanska ◽  
Felicja Lwow
Keyword(s):  
Risk Factors ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Receptor Gene ◽  
P Value ◽  
Vdr Gene ◽  
Taqi Polymorphism ◽  
Vdr Gene Polymorphisms

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.

Sign in / Sign up

Export Citation Format

Share Document