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.

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 Association of Vitamin D deficiency and Vitamin D Receptor Gene Polymorphisms with Type 2 diabetes mellitus Saudi patients

1970 ◽  
Vol 19 (4) ◽  
pp. 2812-2818
Author(s):  
Ayman S Al-Hazmi
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Receptor Gene Polymorphisms ◽  
25 Oh Vitamin D

Background: Type 2 diabetes mellitus (T2DM) is a global problem. Association of multiple genes in T2DM becomes a hot point recently. This study was aimed to evaluate association of vitamin D receptor gene polymorphisms with susceptibility to T2DM. Subjects and methods: One hundred T2DM Saudi male patients were included in this study and one hundred healthy Saudi men were used as control. For each individual, fasting blood glucose, cholesterol, HDL-C, LDL-C, HbA1c, insulin and 25-(OH) vitamin D were measured. In addition, Apal, BsmI and TaqI genotypes were performed for each subject. Data was analyzed by SPSS version 16, using Spearman's rho and ANOVA tests. Results: There was significant inverse correlation between 25-(OH) vitamin D level and T2DM (p<0.01). HbA1c was inversely correlated with 25-(OH) vitamin D level (P<0.05). Genotype study showed that tt of TaqI genotype was higher in T2DM group compared with control group (p<0.05). Moreover, tt genotype has higher HbA1c than both TT and Tt genotypes (p<0.05). Conclusion: An association was confirmed between TaqI genotypes and T2DM but there is no correlation between BsmI, ApaI and T2DM. In addition, HbA1c is positively correlated with tt genotype of TaqI.Keywords: Vitamin D receptor, diabetes type 2, polymorphism.

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.

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