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Vitamin D Receptor Gene

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https://www.readbyqxmd.com/read/28228780/the-relationship-between-vitamin-d-receptor-vdr-polymorphism-and-the-occurrence-of-osteoporosis-in-menopausal-iranian-women
#1
Raheleh Dabirnia, Sanaz Mahmazi, Amirhossein Taromchi, Masoum Nikzad, Ehsan Saburi
BACKGROUND: Osteoporosis, a multifactorial disease with reduced bone mineral density which increases the probability of bone fractures, is caused by calcium deficiency, and its incidence increases with age. It has been determined that mutations in functional regions of vitamin D receptor gene will affect the metabolism of minerals especially calcium and, therefore, bone density. The present study evaluates the relation between vitamin D receptor polymorphisms, TaqI (rs731236) and ApaI (rs7975232), and osteoporosis in menopausal Azari women in Zanjan province...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28223834/bile-salt-receptor-tgr5-is-highly-expressed-in-esophageal-adenocarcinoma-and-precancerous-lesions-with-significantly-worse-overall-survival-and-gender-differences
#2
Chunhong Pang, Amy LaLonde, Tony E Godfrey, Jianwen Que, Jun Sun, Tong Tong Wu, Zhongren Zhou
Bile acid reflux in the esophagus plays an important role in the carcinogenesis of esophageal adenocarcinoma (EAC). The G-protein coupled bile acid receptor (TGR5) has been associated with the development of gastrointestinal cancer. However, little is known regarding the role of TGR5 in esophageal carcinoma and precancerous lesions. We analyzed genomic DNA from 116 EACs for copy number aberrations via Affymetrix SNP6.0 microarrays. The TGR5 gene locus was amplified in 12.7% (14/116) of the EACs. The TGR5 protein expression was also assessed using immunohistochemistry from tissue microarrays, including Barrett's esophagus (BE), low-(LGD) and high-grade dysplasia (HGD), columnar cell metaplasia (CM), squamous epithelium (SE), EAC and squamous cell carcinoma...
2017: Clinical and Experimental Gastroenterology
https://www.readbyqxmd.com/read/28223310/overexpression-of-vitamin-d-receptor-mrna-correlates-with-poor-prognosis-in-ptc
#3
June Young Choi, Jin Wook Yi, Joon-Hyop Lee, Ra-Yeong Song, Hyeong Won Yu, Hyungju Kwon, Young Jun Chai, Su-Jin Kim, Kyu Eun Lee
The purpose of this study was to assess the relationship between vitamin D receptor (VDR) mRNA expression and prognosis in papillary thyroid cancer. RNA sequencing and somatic mutation data from TCGA (the Cancer Genome Atlas) were analyzed. VDR mRNA expression was compared to clinicopathologic variables by linear regression. Tree-based classification was applied to find VDR cutoff and patients were split into low and high VDR group. Logistic regression, Kaplan-Meier analysis, differentially expressed gene (DEG) test, and pathway analysis were performed to assess differences between groups...
February 21, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28222630/association-of-vdr-polymorphisms-taq-i-and-bsm-i-with-prostate-cancer-a-new-meta-analysis
#4
Sheng Liu, Hairong Cai, Weisong Cheng, Haitao Zhang, Zhengbo Pan, Dongguo Wang
Objective Prostate cancer is a malignant tumour that poses a serious risk to human health. Epidemiological studies suggest that it may be associated with vitamin D receptor gene ( VDR) polymorphisms. Previous work investigated potential risks between Taq I (rs731236) and Bsm I (rs1544410) VDR polymorphisms with prostate cancer in humans; however, results are inconsistent. Methods We conducted a meta-analysis to retrieve genetic association analyses of rs731236 and rs1544410 polymorphisms with prostate cancer from studies published between 2006-2016...
February 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#5
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28219837/chronic-maternal-calcium-and-25-hydroxyvitamin-d-deficiency-in-wistar-rats-programs-abnormal-hepatic-gene-expression-leading-to-hepatic-steatosis-in-female-offspring
#6
Sona S Sharma, Nivedita M Jangale, Abhay M Harsulkar, Medha K Gokhale, Bimba N Joshi
Importance of calcium and vitamin D deficiency is well established in adult dyslipidemia. We hypothesized that maternal calcium and vitamin D deficiency could alter offspring's lipid metabolism. Our objective was to investigate the effect of maternal dietary calcium and vitamin D deficiency on lipid metabolism and liver function of the F1 generation offspring. intergenerational calcium-deficient (CaD) and vitamin D-deficient (VDD) models were developed by mating normal male rats with deficient females and continuing maternal-deficient diets through pregnancy and lactation...
February 8, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28219207/-mutations-of-vitamin-d-receptor-gene-found-in-patients-with-multiple-myeloma
#7
Y Liu, H B Rui
Objective: To explore the mutations of vitamin D receptor (VDR) gene in patients with multiple myeloma (MM). Methods: Polymerase chain reaction (PCR) and direct DNA sequencing were used to detect the mutations of VDR gene(loci Fok Ⅰ, Bsm Ⅰ, Apa Ⅰ, Taq Ⅰ) in forty MM cases and 84 healthy control subjects. Results: A synonymous mutation (ATC→ATA , both encode isoleucine) at cDNA codon1421 of VDR gene was found in one MM patients, which correlated to a better therapeutic response. Rare Bsm Ⅰ AA genotype and Taq Ⅰ CC genotype were detected in a MM patient, which might be related to the relapsing and refracfory disease...
February 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28219093/-impact-of-vitamin-d-in-sports-does-vitamin-d-insufficiency-compromise-athletic-performance
#8
Sebastian Butscheidt, Tim Rolvien, Peter Ueblacker, Michael Amling, Florian Barvencik
: Introduction Vitamin D is essential for calcium homeostasis and regulates the expression of over 900 genes. It thereby influences musculoskeletal health and function. Additionally, multiple other effects were observed through the detection of vitamin D receptors (VDR) in numerous tissues of the human body. Material and Methods We reviewed the literature regarding evidence of the impact of vitamin D on musculoskeletal health and peak athletic performance. Results and Discussion It is well known that there is a high prevalence of vitamin D deficiency in the average European population...
February 20, 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28218743/vitamin-d-signaling-and-melanoma-role-of-vitamin-d-and-its-receptors-in-melanoma-progression-and-management
#9
REVIEW
Andrzej T Slominski, Anna A Brożyna, Michal A Zmijewski, Wojciech Jóźwicki, Anton M Jetten, Rebecca S Mason, Robert C Tuckey, Craig A Elmets
Ultraviolet B (UVB), in addition to having carcinogenic activity, is required for the production of vitamin D3 (D3) in the skin which supplies >90% of the body's requirement. Vitamin D is activated through hydroxylation by 25-hydroxylases (CYP2R1 or CYP27A1) and 1α-hydroxylase (CYP27B1) to produce 1,25(OH)2D3, or through the action of CYP11A1 to produce mono-di- and trihydroxy-D3 products that can be further modified by CYP27B1, CYP27A1, and CYP24A1. The active forms of D3, in addition to regulating calcium metabolism, exert pleiotropic activities, which include anticarcinogenic and anti-melanoma effects in experimental models, with photoprotection against UVB-induced damage...
February 20, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28216333/vitamin-d-receptor-gene-polymorphisms-smoking-and-risk-of-sporadic-parkinson-s-disease-in-japan
#10
Keiko Tanaka, Yoshihiro Miyake, Wakaba Fukushima, Chikako Kiyohara, Satoshi Sasaki, Yoshio Tsuboi, Tomoko Oeda, Hiroyuki Shimada, Nobutoshi Kawamura, Nobutaka Sakae, Hidenao Fukuyama, Yoshio Hirota, Masaki Nagai, Yoshikazu Nakamura
Epidemiological evidence on the relationships between the vitamin D receptor (VDR) single nucleotide polymorphisms (SNPs) rs731236 (TaqI), rs7975232 (ApaI), rs1544410 (BsmI), and rs2228570 (FokI) and Parkinson's disease (PD) is inconsistent. We investigated these relationships in 229 sporadic PD patients within six years of onset in Japan. Controls were 357 patients without neurodegenerative disease. Adjustment was made for sex, age, region of residence, and smoking. A significant inverse association was found between SNP rs2228570 and the risk of sporadic PD under the additive but not the co-dominant or dominant model (P=0...
February 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28216152/1-25-dihydroxyvitamin-d3-prevents-the-development-of-diabetic-cardiomyopathy-in-type-1-diabetic-rats-by-enhancing-autophagy-via-inhibiting-the-%C3%AE-catenin-tcf4-gsk-3%C3%AE-mtor-pathway
#11
Huili Wei, Hua Qu, Hang Wang, Baolan Ji, Yao Ding, Dan Liu, Yang Duan, Huimin Liang, Chuan Peng, Xiaoqiu Xiao, Huacong Deng
Diabetic cardiomyopathy (DCM) can increase the risk of heart failure and death in diabetic patients. However, no effective approaches are available to prevent its progression and development. Studies have shown that vitamin D is greatly implicated in cardiac hypertrophy and fibrosis, and there is a high prevalence of vitamin D deficiency in diabetic patients. In this study, we investigated whether 1,25-Dihydroxyvitamin-D3 (1,25D3) can improve DCM through a vitamin D receptor (VDR)-dependent mechanism associated with autophagy and the β-catenin/T-cell factor/lymphoid enhancer factor (TCF4)/glycogen synthase kinase-3β (GSK-3β)/mammalian target of rapamycin (mTOR) pathway...
February 16, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28213567/vitamin-d-receptor-as-a-target-for-breast-cancer-therapy
#12
Alyson Murray, Stephen Madden, Naoise C Synnott, Rut Klinger, Darran O'Connor, Norma O'Donovan, William Gallagher, John Crown, Michael Duffy
Considerable epidemiological evidence suggests that high levels of circulating vitamin D (VD) are associated with a decreased incidence and increased survival from cancer, i.e., VD may possess anti-cancer properties. The aim of this investigation was therefore to investigate the anti-cancer potential of a low calcemic vitamin D analogue, i.e., inecalcitol and compare it with the active form of vitamin D, i.e., calcitriol, in a panel of breast cancer cell lines (n = 15). Using the MTT assay, IC50 concentrations for response to calcitriol varied from 0...
February 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28212442/ecto-5-nucleotidase-cd73-nt5e-vitamin-d-receptor-and-fgf23-gene-polymorphisms-may-play-a-role-in-the-development-of-calcific-uremic-arteriolopathy-in-dialysis-patients-data-from-the-german-calciphylaxis-registry
#13
Hansjörg Rothe, Vincent Brandenburg, Margot Haun, Barbara Kollerits, Florian Kronenberg, Markus Ketteler, Christoph Wanner
INTRODUCTION: Calciphylaxis/calcific uremic arteriolopathy affects mainly end-stage kidney disease patients but is also associated with malignant disorders such as myeloma, melanoma and breast cancer. Genetic risk factors of calciphylaxis have never been studied before. METHODS: We investigated 10 target genes using a tagging SNP approach: the genes encoding CD73/ ecto-5'-nucleotidase (purinergic pathway), Matrix Gla protein, Fetuin A, Bone Gla protein, VKORC1 (all related to intrinsic calcification inhibition), calcium-sensing receptor, FGF23, Klotho, vitamin D receptor, stanniocalcin 1 (all related to CKD-MBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28199350/25-hydroxyvitamin-d3-and-1-25-dihydroxyvitamin-d3-exert-distinct-effects-on-human-skeletal-muscle-function-and-gene-expression
#14
Zaki K Hassan-Smith, Carl Jenkinson, David J Smith, Ivan Hernandez, Stuart A Morgan, Nicola J Crabtree, Neil J Gittoes, Brian G Keevil, Paul M Stewart, Martin Hewison
Age-associated decline in muscle function represents a significant public health burden. Vitamin D-deficiency is also prevalent in aging subjects, and has been linked to loss of muscle mass and strength (sarcopenia), but the precise role of specific vitamin D metabolites in determining muscle phenotype and function is still unclear. To address this we quantified serum concentrations of multiple vitamin D metabolites, and assessed the impact of these metabolites on body composition/muscle function parameters, and muscle biopsy gene expression in a retrospective study of a cohort of healthy volunteers...
2017: PloS One
https://www.readbyqxmd.com/read/28186460/vitamin-d-receptor-gene-polymorphisms-metabolic-syndrome-and-type-2-diabetes-in-iranian-subjects-no-association-with-observed-snps
#15
Sakineh Shab-Bidar, Tirang R Neyestani, Abolghassem Djazayery
OBJECTIVE: This study aimed to investigate the associations between metabolic syndrome and type 2 diabetes and the presence of single nucleotide polymorphism of the vitamin D receptor gene in Iranian subjects with type 2 diabetes. SUBJECTS AND METHODS: Overall, 730 Iranian subjects (372 patients and 358 controls) were enrolled in this case-control study. Single nucleotide polymorphisms of the vitamin D receptor gene (FokI, BsmI, ApaI, and TaqI) were genotyped using the restriction fragment length polymorphism method...
February 10, 2017: International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition
https://www.readbyqxmd.com/read/28184307/low-back-pain-and-foki-rs2228570-polymorphism-of-vitamin-d-receptor-in-athletes
#16
Sabina Cauci, Francesca Migliozzi, Carlo Simone Trombetta, Ilaria Venuto, Paola Saccheri, Luciana Travan, Giovanni Chiriacò
BACKGROUND: Low back pain (LBP) is common in athletes. LBP can be detrimental to athletic performance and health. Factors predisposing to LBP in athletes remain elusive and require further studies. We investigated whether carriage of a specific genotype and/or allele of vitamin D receptor gene (VDR) FokI polymorphism (rs2228570) was a risk factor for LBP in athletes of different sports disciplines. METHODS: This genotype/phenotype association case-control study included 60 Italian athletes (25 females and 35 males; mean age 33...
2017: BMC Sports Science, Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28177777/high-concentration-calcitriol-induces-endoplasmic-reticulum-stress-related-gene-profile-in-breast-cancer-cells
#17
Ali Burak Ozkaya, Handan Ak, Hikmet Hakan Aydin
Calcitriol, the active form of vitamin D, is known for its anti-cancer properties including induction of apoptosis, inhibition of angiogenesis and metastasis. Understanding the mechanism of action for calcitriol will help development of novel treatment strategies. Since vitamin D exerts its cellular actions via binding to its receptor and by altering expressions of a set of genes, we aimed to evaluate the effect of calcitriol on transcriptomic profile of breast cancer cells. We previously demonstrated that calcitriol alters ER stress markers, therefore in this study we have focused on ER-stress related genes to reveal calcitriols action on these genes in particular...
June 29, 2016: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28172824/p120-a-single-nucleotide-polymorphism-in-the-vitamin-d-receptor-gene-is-associated-with-a-b3-penetrating-phenotype-in-crohn-s-disease
#18
L Gisbert-Ferrándiz, P Salvador, D Ortiz-Masiá, D C Macias-Ceja, S Calatayud, J Hinojosa, L Oltra-Camps, M D Barrachina, C Hernández
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28170338/association-between-vitamin-d-receptor-gene-foki-polymorphism-and-skeletal-fluorosis-of-the-brick-tea-type-fluorosis-a-cross-sectional-case-control-study
#19
Dan Yang, Yang Liu, Yanru Chu, Qing Yang, Wei Jiang, Fuxun Chen, Dandan Li, Ming Qin, Dianjun Sun, Yanmei Yang, Yanhui Gao
BACKGROUND: Brick-tea type fluorosis is a public health concern in the north west area of China. The vitamin D receptor (VDR)-FokI polymorphism is considered to be a regulator of bone metabolism and calcium resorption. However, the association of VDR-FokI polymorphism with the risk of brick-tea type fluorosis has not been reported. MATERIALS AND METHODS: A cross sectional, case control study was conducted in three provinces (Inner Mongolia, Qinghai and Sinkiang) in China...
November 10, 2016: BMJ Open
https://www.readbyqxmd.com/read/28166722/integration-of-vdr-genome-wide-binding-and-gwas-genetic-variation-data-reveals-co-occurrence-of-vdr-and-nf-%C3%AE%C2%BAb-binding-that-is-linked-to-immune-phenotypes
#20
Prashant K Singh, Patrick R van den Berg, Mark D Long, Angie Vreugdenhil, Laurie Grieshober, Heather M Ochs-Balcom, Jianmin Wang, Sylvie Delcambre, Sami Heikkinen, Carsten Carlberg, Moray J Campbell, Lara E Sucheston-Campbell
BACKGROUND: The nuclear hormone receptor superfamily acts as a genomic sensor of diverse signals. Their actions are often intertwined with other transcription factors. Nuclear hormone receptors are targets for many therapeutic drugs, and include the vitamin D receptor (VDR). VDR signaling is pleotropic, being implicated in calcaemic function, antibacterial actions, growth control, immunomodulation and anti-cancer actions. Specifically, we hypothesized that the biologically significant relationships between the VDR transcriptome and phenotype-associated biology could be discovered by integrating the known VDR transcription factor binding sites and all published trait- and disease-associated SNPs...
February 6, 2017: BMC Genomics
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