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Vitamin D Receptor Gene

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https://www.readbyqxmd.com/read/28911165/cellular-retinoic-acid-binding-protein-1-modulates-stem-cell-proliferation-to-affect-learning-and-memory-in-male-mice
#1
Yu-Lung Lin, Shawna D Persaud, Jennifer Nhieu, Li-Na Wei
Retinoic acid (RA) is the active ingredient of vitamin A. It exerts its canonical activity by binding to nuclear RA receptors (RARs) to regulate gene expression. Increasingly, RA is also known to elicit nongenomic RAR-independent activities, most widely detected in activating extracellular regulated kinase (ERK)1/2. This study validated the functional role of cellular retinoic acid-binding protein 1 (Crabp1) in mediating nongenomic activity in RA, specifically activating ERK1/2 to rapidly augment the cell cycle by expanding the growth 1 phase and slowing down embryonic stem cell and neural stem cell (NSC) proliferation...
September 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28900319/investigation-of-vitamin-d-receptor-gene-polymorphism-in-pediatric-patients-with-brain-cancer
#2
Baris Yilmaz, Gulnur Ayse Tokuc, Ahmet Koc, Edanur Yesil
AIM: In recent years, it is believed that Vitamin D may play a protective role in some cancer types. Certain regions of the Vitamin D receptor (VDR) gene may show a genetic difference in structure. The most frequent polymorphisms in this gene are in Taq-1, Fok-1, and Bsm-1 regions. Some adult cancer types are associated with VDR gene polymorphism such as; colorectal carcinoma, breast carcinoma, and prostate carcinoma. Reviewing the medical literature, no such study had been done on children so far...
April 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28893622/differential-expression-of-vitamin-d-associated-enzymes-and-receptors-in-brain-cell-subtypes
#3
Véréna Landel, Delphine Stephan, Xiaoying Cui, Darryl Eyles, François Feron
Accumulating evidence indicates that the active form of vitamin D, 1,25(OH)2D3, can be considered as a neurosteroid. However, the cerebral expression of vitamin D-associated enzymes and receptors remains controversial. With the idea of carrying out a comparative study in mind, we compared the transcript expression of Cyp27a1, Cyp27b1, Cyp24a1, Vdr and Pdia3 in purified cultures of astrocytes, endothelial cells, microglia, neurons and oligodendrocytes. We observed that endothelial cells and neurons can possibly transform the inactive cholecalciferol into 25(OH)D3...
September 8, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28891930/vitamin-d-receptor-gene-polymorphisms-associated-with-childhood-autism
#4
Anna Cieślińska, Elżbieta Kostyra, Barbara Chwała, Małgorzata Moszyńska-Dumara, Ewa Fiedorowicz, Małgorzata Teodorowicz, Huub F J Savelkoul
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene...
September 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28891071/genetic-variation-in-the-vitamin-d-related-pathway-and-breast-cancer-risk-in-women-of-african-ancestry-in-the-root-consortium
#5
Shengfeng Wang, Dezheng Huo, Sonia Kupfer, Dereck Alleyne, Temidayo O Ogundiran, Oladosu Ojengbede, Wei Zheng, Katherine L Nathanson, Barbara Nemesure, Stefan Ambs, Olufunmilayo I Olopade, Yonglan Zheng
The vitamin D related pathway has been evaluated in carcinogenesis but its genetic contribution remains poorly understood. We examined single-nucleotide polymorphisms (SNPs) in the vitamin D related pathway genes using data from a genome-wide association study (GWAS) of breast cancer in the African Diaspora that included 3,686 participants (1,657 cases). Pathway- and gene-level analyses were conducted using the adaptive rank truncated product test. Odds ratios (OR) and 95% confidence intervals (CI) were estimated at SNP-level...
September 10, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28887089/steviol-an-aglycone-of-steviol-glycoside-sweeteners-interacts-with-the-pregnane-x-pxr-and-aryl-hydrocarbon-ahr-receptors-in-detoxification-regulation
#6
Jan Dusek, Alejandro Carazo, Frantisek Trejtnar, Lucie Hyrsova, Ondřej Holas, Tomas Smutny, Stanislav Micuda, Petr Pavek
Stevia rebaudiana Bertoni is a herb known for the high content of natural sweeteners in its leaves. Its main secondary metabolite stevioside is used as non-caloric sweetener. No information, however, is available on whether stevioside or steviol interact with drug-metabolizing enzymes and pose the potential risk of food-drug interactions. Similarly, data are lacking on the interactions of steviol and stevioside with key nuclear receptors controlling the expression of the main drug metabolizing enzymes. We studied the interactions of steviol and stevioside with the pregnane X (PXR), vitamin D (VDR), constitutive androstane (CAR), farnesoid X (FXR), glucocorticoid (GR) and aryl hydrocarbon (AHR) receptors, which control expression of genes of xenobiotic metabolism...
September 5, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28884047/bsmi-rs1544410-and-foki-rs2228570-vitamin-d-receptor-polymorphisms-smoking-and-body-mass-index-as-risk-factors-of-cutaneous-malignant-melanoma-in-northeast-italy
#7
Sabina Cauci, Vincenzo Maione, Cinzia Buligan, Martina Linussio, Diego Serraino, Giuseppe Stinco
OBJECTIVE: : To investigate whether vitamin D receptor gene (VDR) BsmI-rs1544410 and FokI-rs2228570 polymorphisms, smoking duration, and body mass index (BMI) are risk factors for cutaneous melanoma, especially metastatic melanoma. METHODS: : We studied 120 cutaneous melanoma cases [68 stage I and II non-metastatic melanoma (NMetM) patients, plus 52 Stage III and IV metastatic melanoma (MetM) patients], and 120 matching healthy controls from northeast Italy. VDR polymorphisms were measured by restriction fragment length polymorphism analysis...
August 2017: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/28878195/1-945-25-dihydroxyvitamin-d3-attenuates-tgf-946-induced-pro-fibrotic-effects-in-human-lung-epithelial-cells-through-inhibition-of-epithelial-mesenchymal-transition
#8
Fei Jiang, Yong Yang, Lian Xue, Bingyan Li, Zengli Zhang
Pulmonary fibrosis is a progressive fibrotic lung disease of persisting lung injury and ineffective wound repair, with poor prognosis. Epithelial-mesenchymal transition (EMT) of alveolar epithelia cells is an early event in the development of pulmonary fibrosis, and transforming growth factor β (TGF-β) is an acknowledged inducer of EMT. Epidemiological studies demonstrated that serum levels of 25-hydroxy-vitamin D were associated with the presence of fibrosis diseases. We investigated whether vitamin D attenuated TGF-β-induced pro-fibrotic effects through inhibiting EMT in human alveolar epithelia A549 cells...
September 6, 2017: Nutrients
https://www.readbyqxmd.com/read/28870774/ets-transcription-factor-family-member-gabpa-contributes-to-vitamin-d-receptor-target-gene-regulation
#9
Sabine Seuter, Antonio Neme, Carsten Carlberg
Binding motifs of the ETS-domain transcription factor GABPA are found with high significance below the summits of the vitamin D receptor (VDR) cistrome. VDR is the nuclear receptor for the biologically most active vitamin D metabolite 1α,25-dihydroxyvitamin D3 (1,25(OH)2D3). In this study, we determined the GABPA cistrome in THP-1 human monocytes and found that it is comprised of 3822 genomic loci, some 20% of which were modulated by 1,25(OH)2D3. The GABPA cistrome showed a high overlap rate with accessible chromatin and the pioneer transcription factor PU...
September 11, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28868946/vitamin-d-receptor-gene-polymorphisms-and-risk-of-polycystic-ovary-syndrome-in-south-indian-women
#10
Swapna Siddamalla, Tumu Venkat Reddy, Suresh Govatati, Nagendram Erram, Mamata Deenadayal, Sisinthy Shivaji, Manjula Bhanoori
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive age women. Emerging evidence suggests that Vitamin D Receptor (VDR) might be a causal factor for characteristics associated with PCOS such as obesity and type 2 diabetes. Present study investigated association between VDR gene BsmI A/G (rs1544410), ApaI A/C (rs7975232) and TaqI T/C (rs731236) single nucleotide polymorphisms and PCOS risk in South Indian women. Genotyping of VDR gene SNPs was carried out in PCOS patients (n = 95) and controls (n = 130) by PCR-RFLP method and confirmed by sequencing analysis...
September 3, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28868163/new-insights-into-the-vitamin-d-requirements-during-pregnancy
#11
REVIEW
Bruce W Hollis, Carol L Wagner
Pregnancy represents a dynamic period with physical and physiological changes in both the mother and her developing fetus. The dramatic 2-3 fold increase in the active hormone 1,25(OH)2D concentrations during the early weeks of pregnancy despite minimal increased calcium demands during that time of gestation and which are sustained throughout pregnancy in both the mother and fetus suggests an immunomodulatory role in preventing fetal rejection by the mother. While there have been numerous observational studies that support the premise of vitamin D's role in maintaining maternal and fetal well-being, until recently, there have been few randomized clinical trials with vitamin D supplementation...
2017: Bone Research
https://www.readbyqxmd.com/read/28864453/no-association-of-vitamin-d-pathway-genetic-variants-with-cancer-risks-in-a-population-based-cohort-of-german-older-adults
#12
José Manuel Ordóñez-Mena, Ben Schöttker, Kai U Saum, Bernd Holleczek, Barbara Burwinkel, Thomas J Wang, Hermann Brenner
Background: Several investigations assessed the association of vitamin D receptor (VDR) SNPs with cancer risk. Less is known about the implications of other vitamin D pathway SNPs on cancer risk.Methods: In a population-based cohort study of 9,949 German older adults, we used Cox regression to assess the association of 6 SNPs in the VDR, vitamin D-binding protein (GC), 7-dehydrocholesterol reductase (DHCR7), vitamin D 25-hydroxylase (CYP2R1), and vitamin D 24-hydroxylase (CYP24A1) genes with total and site-specific cancer incidence endpoints...
September 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28860545/1%C3%AE-20s-dihydroxyvitamin-d3-interacts-with-vitamin-d-receptor-crystal-structure-and-route-of-chemical-synthesis
#13
Zongtao Lin, Hao Chen, Anna Y Belorusova, John C Bollinger, Edith K Y Tang, Zorica Janjetovic, Tae-Kang Kim, Zhongzhi Wu, Duane D Miller, Andrzej T Slominski, Arnold E Postlethwaite, Robert C Tuckey, Natacha Rochel, Wei Li
1α,20S-Dihydroxyvitamin D3 [1,20S(OH)2D3], a natural and bioactive vitamin D3 metabolite, was chemically synthesized for the first time. X-ray crystallography analysis of intermediate 15 confirmed its 1α-OH configuration. 1,20S(OH)2D3 interacts with the vitamin D receptor (VDR), with similar potency to its native ligand, 1α,25-dihydroxyvitamin D3 [1,25(OH)2D3] as illustrated by its ability to stimulate translocation of the VDR to the nucleus, stimulate VDRE-reporter activity, regulate VDR downstream genes (VDR, CYP24A1, TRPV6 and CYP27B1), and inhibit the production of inflammatory markers (IFNγ and IL1β)...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28851298/vitamin-d-receptor-gene-polymorphisms-in-association-with-diabetic-nephropathy-a-systematic-review-and-meta-analysis
#14
REVIEW
Lina Yang, Lan Wu, Yi Fan, Jianfei Ma
BACKGROUND: A large amount of researches have demonstrated that vitamin D receptor (VDR) gene polymorphisms are associated with diabetic nephropathy (DN) risk in diabetes mellitus (DM) patients. Nevertheless, the results are inconclusive and inconsistent. METHODS: We screened PubMed, Embase, Chinese National Knowledge Infrastructure and Chinese Wanfang databases for those relevant studies updated in May 2016. RESULTS: 7 studies involving 2564 subjects were recruited...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28845932/-early-diagnosis-of-risk-for-developing-calcium-oxalate-urolithiasis
#15
O I Apolikhin, A V Sivkov, O V Konstantinova, P A Slominskii, T V Tupitsyna, D N Kalinichenko
AIM: To identify risk groups for calcium oxalate urolithiasis among healthy individuals and patients with urolithiasis in the Russian population using molecular genetics. MATERIALS AND METHODS: The study comprised 72 patients with calcium oxalate urolithiasis (study group) and 189 healthy adults from the general Russian population (control group). The study group consisted of 39 (54.2%) men and 33 (45.8%) women. The mean age of urolithiasis patients was 41.5+/-12...
July 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28841366/mortality-and-transcriptional-effects-of-inorganic-mercury-in-the-marine-copepod-calanus-finmarchicus
#16
Knut Erik Tollefsen, You Song, Tore Høgåsen, Ida Beathe Øverjordet, Dag Altin, Bjørn Henrik Hansen
Inorganic mercury (Hg) is highly toxic to organisms including crustaceans and displays multiple toxic modes of action (MoA). The main aim of this investigation was to assess the acute and sublethal toxicity mediated by mercury chloride (HgCl2) in the marine copepod Calanus finmarchicus. A combination of short-term static studies to determine acute toxicity and a transcriptional investigation to characterize the sublethal MoA of HgCl2 were conducted with an in-house continuous culture of C. finmarchicus. Transcriptional changes were determined by a custom 6...
August 25, 2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28836398/vdr-and-cyp24a1-expression-analysis-in-iranian-relapsing-remitting-multiple-sclerosis-patients
#17
Hashem Sadeghi, Mohammad Taheri, Elham Sajadi, Abolfazl Movafagh, Shahram Arsang Jang, Arezou Sayad
OBJECTIVES: Multiple sclerosis (MS) is a common disease of the central nervous system.This disease may be initiated by either vitamin deficiency or triggered by abnormality in CYP24A1 and vitamin D receptor. MATERIALS AND METHODS: In this case-control study, the expression of genes encoding vitamin D receptor (VDR) and CYP24A1 in relapsing-remitting MS (RR-MS) patients was compared with normal individuals in the Iranian population. RNA from whole blood of 50 RR-MS patients (HLA-DRB1*15-negative and responders to interferonbeta with a normal vitamin D level) and 50 normal controls was extracted...
October 2017: Cell Journal
https://www.readbyqxmd.com/read/28835676/homozygous-p-ser267phe-in-slc10a1-is-associated-with-a-new-type-of-hypercholanemia-and-implications-for-personalized-medicine
#18
Ruihong Liu, Chuming Chen, Xuefeng Xia, Qijun Liao, Qiong Wang, Paul J Newcombe, Shuhua Xu, Minghui Chen, Yue Ding, Xiaoying Li, Zhihong Liao, Fucheng Li, Minlian Du, Huaiqiu Huang, Ruimin Dong, Weiping Deng, Ye Wang, Binghui Zeng, Qihao Pan, Danhua Jiang, Hao Zeng, Pak Sham, Yingnan Cao, Patrick H Maxwell, Zhi-Liang Gao, Liang Peng, Yiming Wang
SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter for bile acids (BAs) and the receptor for hepatitis B and D viruses. NTCP is also a target of multiple drugs. We aimed to evaluate the medical consequences of the loss of function mutation p.Ser267Phe in SLC10A1. We identified eight individuals with homozygous p.Ser267Phe mutation in SLC10A1 and followed up for 8-90 months. We compared their total serum BAs and 6 species of BAs with 170 wild-type and 107 heterozygous healthy individuals...
August 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28832880/association-of-vitamin-d-receptor-polymorphisms-with-the-risk-of-nonmelanoma-skin-cancer-in-adults
#19
Erin M Burns, Purushotham Guroji, Israr Ahmad, Hana M Nasr, Yingxue Wang, Iman A Tamimi, Elijah Stiefel, Mohammad S Abdelgawwad, Abdullah Shaheen, Anum F Muzaffar, Lisa M Bush, Christina B Hurst, Russell L Griffin, Craig A Elmets, Nabiha Yusuf
Importance: Protective effects of UV-B radiation against nonmelanoma skin cancer (NMSC) are exerted via signaling mechanisms involving the vitamin D receptor (VDR). Recent studies have examined single-nucleotide polymorphisms (SNPs) in the VDR, resulting in contradictory findings as to whether these polymorphisms increase a person's risk for NMSC. Objective: To examine whether the polymorphisms in the VDR gene are associated with the development of NMSC and the demographic characteristics of the participants...
August 23, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28830368/allelic-variants-in-vitamin-d-receptor-gene-are-associated-with-adiposity-measures-in-the-central-european-population
#20
Julie Bienertová-Vašků, Filip Zlámal, Aneta Pohořalá, Ondřej Mikeš, Monika Goldbergová-Pávková, Jan Novák, Zbyněk Šplíchal, Hynek Pikhart
BACKGROUND: There is an increasing body of evidence suggesting that vitamin D is involved in ethiopathogenesis of obesity and therefore the aim of the study was to investigate whether 5 selected SNPs in VDR (vitamin D receptor) gene are associated also with anthropometry in the obese and non-obese Central-European population. METHODS: A total of 882 Central European Caucasian individuals of Czech origin were recruited (n = 882, 232 M/650 F) and weight, height, BMI, lean body mass, fat mass, body fat, waist and hip circumference, waist-hip ratio (WHR) and skinfold thickness were measured...
August 22, 2017: BMC Medical Genetics
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