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Vitamin D Receptor Gene

Pingping Zhang, Qiuxia Li, Jun Qi, Qing Lv, Xuqi Zheng, Xinyu Wu, Jieruo Gu
OBJECTIVES: To investigate whether vitamin D receptor (VDR) gene polymorphisms confer susceptibility to aankylosing spondylitis (AS) and study its polymorphisms in Han Chinese. METHODS: We screened single nucleotide polymorphisms (SNPs) in the VDR region through genome-wide genotyping chips in AS cases and healthy controls, then used the exome sequencing result to analyze all the potential AS-associated SNPs in the VDR gene. RESULTS: Thirty-two SNPs were found in the VDR gene in the genome-wide genotyping chips and the logistic regression result showed no significant difference between AS cases and controls...
October 25, 2016: International Journal of Rheumatic Diseases
Nicole M Gatto, Kimberly C Paul, Janet S Sinsheimer, Jeff M Bronstein, Yvette Bordelon, Rebecca Rausch, Beate Ritz
We and others have suggested that vitamin D receptor gene (VDR) polymorphisms influence susceptibility for Parkinson's disease (PD), Alzheimer's disease (AD), mild cognitive impairment (MCI) or overall cognitive functioning. Here we examine VDR polymorphisms and cognitive decline in patients with PD. Non-Hispanic Caucasian PD patients (n=190) in the Parkinson Environment Gene (PEG) study were successfully genotyped for seven VDR polymorphisms. Cognitive function was assessed with the Mini-Mental State Exam (MMSE) at baseline and at a maximum of three follow-up exams...
November 15, 2016: Journal of the Neurological Sciences
Shu-Zi Zheng, Da-Guan Zhang, Hao Wu, Li-Jia Jiang, Jie Jin, Xiu-Qing Lin, Ran Ding, Yi Jiang
There is now growing evidence suggesting that Vitamin D is playing a critical role in modulating the innate and adaptive immune responses. Several polymorphisms have been identified in the vitamin D receptor (VDR) gene but their association with ulcerative colitis (UC) susceptibility remained controversy. In the current study, we examined the association between VDR polymorphisms and serum level of 25-hydroxyvitamin D [25(OH)D] with UC in Chinese Han population. Polymorphisms of FokI (rs2228570)/BsmI (rs1544410)/ApaI (rs7975232)/TaqI (rs731236) in the VDR gene were assessed in a case-control study comprising 404 UC patients and 612 controls...
October 19, 2016: Clinics and Research in Hepatology and Gastroenterology
Sanjeev Budhathoki, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Taichi Shimazu, Shizuka Sasazuki, Teruhiko Yoshida, Shoichiro Tsugane
Epidemiological and experimental evidence suggest that vitamin D is protective against the risk of colorectal cancer. Polymorphisms in the gene encoding vitamin D receptor (VDR), which mediates most of the known cellular effects of vitamin D, have been suggested to alter this association. Here, using a tag SNP approach, we comprehensively evaluated the role of common genetic variants in VDR and their interaction with plasma vitamin D levels in relation to colorectal cancer risk in Japanese populations. A total of 356 colorectal cancer cases and 709 matched control subjects were selected from the participants of the Japan Public Health Center-based Prospective Cohort Study...
2016: PloS One
Karel Vondra
From the recent literature data it may be concluded that vitamin D deficiency is associated with increased risk of thyroid autoimmunity development and thus should be considered as an additional important risk factor for both chronic autoimmune thyroiditis (postpartum thyroiditis including) and Graves´ disease. A higher risk of Graves´ disease development is also associated with several polymorphisms in the gene encoding for vitamin D binding protein and for the specific receptor of active form of vitamin D - 1,25-(OH)2D3 in the respective target cells...
2016: Vnitr̆ní Lékar̆ství
Angeles Duran, Eloy D Hernandez, Miguel Reina-Campos, Elias A Castilla, Shankar Subramaniam, Sindhu Raghunandan, Lewis R Roberts, Tatiana Kisseleva, Michael Karin, Maria T Diaz-Meco, Jorge Moscat
Hepatic stellate cells (HSCs) play critical roles in liver fibrosis and hepatocellular carcinoma (HCC). Vitamin D receptor (VDR) activation in HSCs inhibits liver inflammation and fibrosis. We found that p62/SQSTM1, a protein upregulated in liver parenchymal cells but downregulated in HCC-associated HSCs, negatively controls HSC activation. Total body or HSC-specific p62 ablation potentiates HSCs and enhances inflammation, fibrosis, and HCC progression. p62 directly interacts with VDR and RXR promoting their heterodimerization, which is critical for VDR:RXR target gene recruitment...
October 10, 2016: Cancer Cell
Jun Wang, Louise B Thingholm, Jurgita Skiecevičienė, Philipp Rausch, Martin Kummen, Johannes R Hov, Frauke Degenhardt, Femke-Anouska Heinsen, Malte C Rühlemann, Silke Szymczak, Kristian Holm, Tönu Esko, Jun Sun, Mihaela Pricop-Jeckstadt, Samer Al-Dury, Pavol Bohov, Jörn Bethune, Felix Sommer, David Ellinghaus, Rolf K Berge, Matthias Hübenthal, Manja Koch, Karin Schwarz, Gerald Rimbach, Patricia Hübbe, Wei-Hung Pan, Raheleh Sheibani-Tezerji, Robert Häsler, Philipp Rosenstiel, Mauro D'Amato, Katja Cloppenborg-Schmidt, Sven Künzel, Matthias Laudes, Hanns-Ulrich Marschall, Wolfgang Lieb, Ute Nöthlings, Tom H Karlsen, John F Baines, Andre Franke
Human gut microbiota is an important determinant for health and disease, and recent studies emphasize the numerous factors shaping its diversity. Here we performed a genome-wide association study (GWAS) of the gut microbiota using two cohorts from northern Germany totaling 1,812 individuals. Comprehensively controlling for diet and non-genetic parameters, we identify genome-wide significant associations for overall microbial variation and individual taxa at multiple genetic loci, including the VDR gene (encoding vitamin D receptor)...
October 10, 2016: Nature Genetics
Nathália Grave, Luciana Tovo-Rodrigues, Janaína da Silveira, Diego Luiz Rovaris, Simone Morelo Dal Bosco, Verônica Contini, Júlia Pasqualini Genro
Much evidence suggests an association between vitamin D deficiency and chronic diseases such as obesity and dyslipidemia. Although genetic factors play an important role in the etiology of these diseases, only a few studies have investigated the relationship between vitamin D-related genes and anthropometric and lipid profiles. The aim of this study was to investigate the association of three vitamin D-related genes with anthropometric and lipid parameters in 542 adult individuals. We analyzed the rs2228570 polymorphism in the vitamin D receptor gene (VDR), rs2134095 in the retinoid X receptor gamma gene (RXRG) and rs7041 in the vitamin D-binding protein gene (GC)...
August 15, 2016: Journal of Nutritional Biochemistry
Mauricio Cortes, Michael J Chen, David L Stachura, Sarah Y Liu, Wanda Kwan, Francis Wright, Linda T Vo, Lindsay N Theodore, Virginie Esain, Isaura M Frost, Thorsten M Schlaeger, Wolfram Goessling, George Q Daley, Trista E North
Vitamin D insufficiency is a worldwide epidemic affecting billions of individuals, including pregnant women and children. Despite its high incidence, the impact of active vitamin D3 (1,25(OH)D3) on embryonic development beyond osteo-regulation remains largely undefined. Here, we demonstrate that 1,25(OH)D3 availability modulates zebrafish hematopoietic stem and progenitor cell (HSPC) production. Loss of Cyp27b1-mediated biosynthesis or vitamin D receptor (VDR) function by gene knockdown resulted in significantly reduced runx1 expression and Flk1(+)cMyb(+) HSPC numbers...
October 4, 2016: Cell Reports
Jianhui Li, Jianmin Yuan, Zhiqiang Miao, Yuming Guo
The objective of this experiment was to characterize the mRNA expression profile of type IIb sodium-inorganic phosphate cotransporter (NaPi-IIb) and the biochemical values of serum alkaline phosphatase (AKP), calcium, inorganic phosphorus, tibial ash and minerals of broiler chickens with aging. A total of 56 one-day-old Arbor Acres male broiler chickens were used. Broiler chickens were weighed and samples were collected weekly from day 1. The result showed that before the growth inflection point, ash, calcium, and phosphorus content in the tibia of broiler chickens increased with growth (before 3 weeks of age), although there were no significant differences in chicks at different ages in the later period of the experiment and weight gain rate was relatively slow at this stage (4 to 6 weeks)...
September 27, 2016: Asian-Australasian Journal of Animal Sciences
Vincent T Martin, Brinder Vij
BACKGROUND: Comprehensive diets do not require the exclusion of a specific provocative food or ingredient, but regulate the quantities of core components of foods such as vitamins, ions, proteins, carbohydrates, and fats. OBJECTIVES: To review the evidence supporting the use of comprehensive diets in the prevention of migraine and other headache disorders and to discuss the mechanisms through which food, and ingredients within foods and beverages might trigger attacks of headache METHODS: This represents Part 2 of a narrative review of the role of diet in the prevention of migraine and other headache disorders...
October 2016: Headache
Simon B Drysdale, Mireia Alcazar, Theresa Wilson, Melvyn Smith, Mark Zuckerman, Hennie M Hodemaekers, Riny Janssen, Louis Bont, Sebastian L Johnston, Anne Greenough
: Term born infants are predisposed to human rhinovirus (HRV) lower respiratory tract infections (LRTI) by reduced neonatal lung function and genetic susceptibility. Our aim was to investigate whether prematurely born infants were similarly predisposed to HRV LRTIs or any other viral LRTIs. Infants born less than 36 weeks of gestational age were recruited. Prior to neonatal/maternity unit discharge, lung function (functional residual capacity by helium gas dilution and multiple breath washout, lung clearance index and compliance (Crs), and resistance (Rrs) of the respiratory system) was assessed and DNA samples assessed for eight single nucleotide polymorphisms (SNPs) in seven genes: ADAM33, IL10, MMP16 NFκB1A,SFTPC, VDR, and NOS2A...
October 1, 2016: European Journal of Pediatrics
Yan Cao, Xinjing Wang, Zhihong Cao, Xiaoxing Cheng
INTRODUCTION: The association between FokI polymorphism of vitamin D receptor (VDR) and tuberculosis (TB) susceptibility has been investigated previously; however, the results were inconsistent and conflicting. In the present study, a meta-analysis was performed to assess the relationship between VDR FokI gene polymorphism and the risk of TB. MATERIAL AND METHODS: Databases including PubMed and Embase were searched for genetic association studies of FokI polymorphism of vitamin D receptor (VDR) and TB...
October 1, 2016: Archives of Medical Science: AMS
Fatouma Alimirah, Xinjian Peng, Akash Gupta, Liang Yuan, JoEllen Welsh, Michele Cleary, Rajendra G Mehta
The vitamin D receptor (VDR), and its ligand 1α,25-dihydroxyvitamin D3 (1,25D3) prevent breast cancer development and progression, yet the molecular mechanisms governing this are unclear. MicroRNAs (miRNAs) on the other hand, promote or inhibit breast cancer growth. To understand how VDR regulates miRNAs, we compared miRNA expression of wild-type (WT) and VDR knockout (VDRKO) breast cancer cells by a Mouse Breast Cancer miRNA PCR array. Compared to VDR WT cells, expressions of miR-214, miR-199a-3p and miR-199a-5p of the miR-199a/miR-214 cluster were 42, 15, and 10 fold higher in VDRKO cells respectively...
September 27, 2016: Experimental Cell Research
M Hamza, S Halayem, R Mrad, S Bourgou, F Charfi, A Belhadj
BACKGROUND: The etiology of autism spectrum disorders (ASD) is complex and multifactorial, and the roles of genetic and environmental factors in its emergence have been well documented. Current research tends to indicate that these two factors act in a synergistic manner. The processes underlying this interaction are still poorly known, but epigenetic modifications could be the mediator in the gene/environment interface. The epigenetic mechanisms have been implicated in susceptibility to stress and also in the pathogenesis of psychiatric disorders including depression and schizophrenia...
September 27, 2016: L'Encéphale
Gaye Erten, Muhammed Kalkan, Sema Bilgiç Gazioğlu, Nilgun Akdeniz, Elif Ozkok, Burcak Vural
Objectives. In our study we aimed to determine VDR gene polymorphisms in patients with Behçet's disease (BD) and neuro-Behçet's disease (NBD) in Turkish population. Methods. PBL obtained from 37 patients with BD, 21 patients with NB, and 30 healthy controls were investigated. Genomic DNA was extracted from whole blood using the QIAamp Blood Kit. VDR ApaI (rs7975232), VDR FokI (rs2228570), and VDR TaqI (rs731236) genotyping was performed by real-time polymerase chain reaction with SimpleProbe melting-curve analysis...
2016: Disease Markers
Wei Cai, Xiao-Ya Shen, Bao-Ping Zhu, Shi-Lei Pan
OBJECTIVE: To explore the relationship between vitamin D receptor (VDR) gene pol-ymorphisms at Fok I site and the risk of preterm birth for potential intervention of of preterm birth or threatened premature delivery. METHODS: Fifty-seven women with preterm birth and 84 with full-term birth were included in this analysis. Polymerase chain reaction-restriction frag-ment length polymorphism (PCR-RFLP) was performed to identify VDR gene Fok I geno-types. RESULTS: No significant difference was found in age, D-dimer (DDI), fibrinogen (Fg), serum calcium (Ca(2+)), leukocyte count or glycosylated hemoglobin (HbA1c) level between the women in the preterm and full-term birth groups (P>0...
August 20, 2016: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
Maimoona Nasreen, Khalid Pervaiz Lone, Saba Khaliq, Shagufta Khaliq
OBJECTIVE: To compare the pattern of Vitamin D receptor (VDR) polymorphisms (Apa I and Fok I) in Type I Diabetes mellitus (T1DM) as cases vs healthy population as control and to investigate the association of VDR polymorphism with vitamin D levels in cases and controls. METHODS: The hypothesis of the study was "VDR gene polymorphisms (Fok 1 and Apa 1) and vitamin D levels are associated with the T1DM". The case-control study was carried out on 44 cases and 44 controls...
October 2016: JPMA. the Journal of the Pakistan Medical Association
Tao Zhang, Yajun Yin, Huan Liu, Weili Du, Chonghua Ren, Ling Wang, Hongzhao Lu, Zhiying Zhang
CRISPR/Cas9 system has become a new versatile technology for genome engineering in various species. To achieve targeted modifications at the same site in both human and mice genomes by a CRISPR/Cas9 nuclease, we designed two target sites in conserved regions of vitamin D receptor (VDR) gene, which cover more than 17 kb of chromosome region depending on the species. We first validated the efficacy of single sgRNA mediated gene specific modifications were 36% and 31% in HEK293T cells. Concurrently, targeted of the intervening genomic segments deletions were generated in chromosomes when two sgRNAs worked simultaneously...
2016: PloS One
E Gaffney-Stomberg, L J Lutz, A Shcherbina, D O Ricke, M Petrovick, T L Cropper, S J Cable, J P McClung
Initial military training (IMT) is associated with increased stress fracture risk. In prior studies, supplemental calcium (Ca) and vitamin D provided daily throughout IMT reduced stress fracture incidence, suppressed PTH, and improved measures of bone health compared to placebo. Data were analyzed from a randomized, double-blind, placebo-controlled trial to determine whether SNPs in Ca and vitamin D related genes were associated with circulating biomarkers of bone metabolism in young adults entering IMT, and whether responses to Ca and vitamin D supplementation were modulated by genotype...
September 28, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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