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Single nucleotide polymorphism and vitamins

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https://www.readbyqxmd.com/read/28703134/genetic-variants-underlying-vitamin-d-metabolism-and-vdr-tgf%C3%AE-1-smad3-interaction-may-impact-on-hcv-progression-a-study-based-on-dbgap-data-from-the-halt-c-study
#1
Laura A de Azevedo, Ursula Matte, Themis R da Silveira, Mário R Álvares-da-Silva
Vitamin D deficiency is prevalent in liver disease and vitamin D has been shown to decrease hepatic fibrosis through an anti-TGFβ-1/SMAD3 effect mediated by the vitamin D receptor. Thus, we hypothesized that genetic variants involved in vitamin D metabolism and/or VDR/TGFβ-1/SMAD3 interaction could impact on the progression of chronic HCV. We obtained or imputed genotypes for 40 single nucleotide polymorphisms (SNPs) located in genes implicated in vitamin D metabolism from the HALT-C cohort via dbGaP. The HALT-C study followed 692 chronic HCV patients over 4 years, evaluating clinical outcomes including worsening of fibrosis, hepatic decompensation (gastric/esophageal bleeding, CTP>7, ascites, spontaneous bacterial peritonitis and encephalopathy), development of hepatocellular carcinoma, and liver death...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28700743/polymorphisms-in-the-vitamin-d-receptor-gene-are-associated-with-reduced-rate-of-sputum-culture-conversion-in-multidrug-resistant-tuberculosis-patients-in-south-africa
#2
Matthew J Magee, Yan V Sun, James C M Brust, N Sarita Shah, Yuming Ning, Salim Allana, Angela Campbell, Qin Hui, Koleka Mlisana, Pravi Moodley, Neel R Gandhi
BACKGROUND: Vitamin D modulates the inflammatory and immune response to tuberculosis (TB) and also mediates the induction of the antimicrobial peptide cathelicidin. Deficiency of 25-hydroxyvitamin D and single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene may increase the risk of TB disease and decrease culture conversion rates in drug susceptible TB. Whether these VDR SNPs are found in African populations or impact multidrug-resistant (MDR) TB treatment has not been established...
2017: PloS One
https://www.readbyqxmd.com/read/28692301/high-dose-vitamin-d3-during-tuberculosis-treatment-in-mongolia-a-randomised-controlled-trial
#3
Davaasambuu Ganmaa, Baatar Munkhzul, Wafaie Fawzi, Donna Spiegelman, Walter C Willett, Purev Bayasgalan, Erkhembayar Baasansuren, Burneebaatar Buyankhishig, Sereeter Oyun-Erdene, David A Jolliffe, Theodoros Xenakis, Sabri Bromage, Barry R Bloom, Adrian R Martineau
RATIONALE: Existing trials of adjunctive vitamin D in the treatment of pulmonary tuberculosis (PTB) are variously limited by small sample sizes, inadequate dosing regimens and high baseline vitamin D status among participants. Comprehensive analyses of the effects of genetic variation in the vitamin D pathway on response to vitamin D supplementation are lacking. OBJECTIVES: To determine the effect of high-dose vitamin D3 on response to antimicrobial therapy for PTB and to evaluate the influence of single nucleotide polymorphisms (SNPs) in vitamin D pathway genes on response to adjunctive vitamin D3...
July 10, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28676457/on-the-role-of-classical-and-novel-forms-of-vitamin-d-in-melanoma-progression-and-management
#4
REVIEW
Andrzej T Slominski, Anna A Brozyna, Cezary Skobowiat, Michal A Zmijewski, Tae-Kang Kim, Zorica Janjetovic, Allen S Oak, Wojciech Jozwicki, Anton M Jetten, Rebecca S Mason, Craig Elmets, We Li, Robert M Hoffman, Robert C Tuckey
Melanoma represents a significant clinical problem affecting a large segment of the population with a relatively high incidence and mortality rate. Ultraviolet radiation (UVR) is an important etiological factor in malignant transformation of melanocytes and melanoma development. UVB, while being a full carcinogen in melanomagenesis, is also necessary for the cutaneous production of vitamin D3 (D3). Calcitriol (1,25(OH)2D3) and novel CYP11A1-derived hydroxyderivatives of D3 show anti-melanoma activities and protective properties against damage induced by UVB...
July 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28672782/vitamin-e-and-alzheimer-s-disease-is-it-time-for-personalized-medicine
#5
REVIEW
Breana Cervantes, Lynn M Ulatowski
For the last two decades, it has been hotly debated whether vitamin E-the major lipid-soluble antioxidant, which functions to maintain neurological integrity-is efficacious as a therapy for Alzheimer's disease. Several factors key to the debate, include (1) which of the eight naturally-occurring vitamin E forms should be used; (2) how combination treatments affect vitamin E efficacy; and (3) safety concerns that most-recently resurfaced after the results of the Selenium and vitamin E Cancer prevention trial SELECT prostate cancer trial...
June 24, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28654689/a-high-density-intraspecific-snp-linkage-map-of-pigeonpea-cajanas-cajan-l-millsp
#6
Sheetal Arora, Ajay Kumar Mahato, Sangeeta Singh, Paritra Mandal, Shefali Bhutani, Sutapa Dutta, Giriraj Kumawat, Bikram Pratap Singh, A K Chaudhary, Rekha Yadav, K Gaikwad, Amitha Mithra Sevanthi, Subhojit Datta, Ranjeet S Raje, Tilak R Sharma, Nagendra Kumar Singh
Pigeonpea (Cajanus cajan (L.) Millsp.) is a major food legume cultivated in semi-arid tropical regions including the Indian subcontinent, Africa, and Southeast Asia. It is an important source of protein, minerals, and vitamins for nearly 20% of the world population. Due to high carbon sequestration and drought tolerance, pigeonpea is an important crop for the development of climate resilient agriculture and nutritional security. However, pigeonpea productivity has remained low for decades because of limited genetic and genomic resources, and sparse utilization of landraces and wild pigeonpea germplasm...
2017: PloS One
https://www.readbyqxmd.com/read/28620126/impact-of-phosphoinositide-3-kinase-and-vitamin-d3-nuclear-receptor-single-nucleotide-polymorphisms-on-the-outcome-of-malignant-melanoma-patients
#7
Francesca Morgese, Davide Soldato, Silvia Pagliaretta, Riccardo Giampieri, Donatella Brancorsini, Mariangela Torniai, Silvia Rinaldi, Agnese Savini, Azzurra Onofri, Marina Scarpelli, Rossana Berardi
BACKGROUND: Several studies associating single nucleotide polymorphisms (SNPs) frequencies with tumors outcome have been conducted, nevertheless malignant melanoma literature data are inconclusive.Therefore we evaluate the impact of different genotypes for phosphoinositide-3-kinase (PI3K) and vitamin D3 nuclear receptor (VDR) SNPs on melanoma patients' outcome. MATERIALS AND METHODS: Genomic DNA of 88 patients was extracted from blood and tumor samples. SNPs were determined by PCR using TaqMan assays...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28618396/vitamin-d-receptor-binding-site-variants-affect-prostate-cancer-progression
#8
Victor C Lin, Shu-Pin Huang, Huei-Ju Ting, Wen-Lung Ma, Chia-Cheng Yu, Chao-Yuan Huang, Hsin-Ling Yin, Tsung-Yi Huang, Cheng-Hsueh Lee, Ta-Yuan Chang, Te-Ling Lu, Bo-Ying Bao
Vitamin D is an important modulator of cellular proliferation through the vitamin D receptor (VDR) that binds to DNA in the regulatory sequences of target genes. We hypothesized that single nucleotide polymorphisms (SNPs) in VDR-binding sites might affect target gene expression and influence the progression of prostate cancer. Using a genome-wide prediction database, 62 SNPs in VDR-binding sites were selected for genotyping in 515 prostate cancer patients and the findings were replicated in an independent cohort of 411 patients...
May 26, 2017: Oncotarget
https://www.readbyqxmd.com/read/28617856/the-associations-between-vdr-bsmi-polymorphisms-and-risk-of-vitamin-d-deficiency-obesity-and-insulin-resistance-in-adolescents-residing-in-a-tropical-country
#9
Rayinda Rahmadhani, Nur Lisa Zaharan, Zahurin Mohamed, Foong Ming Moy, Muhammad Yazid Jalaludin
BACKGROUND: The vitamin D receptor (VDR) gene is expressed abundantly in different tissues; including adipocytes and pancreatic beta cells. The rs1544410 or BsmI single nucleotide polymorphism (SNP) in the intronic region of the VDR gene has been previously associated with vitamin D levels, obesity and insulin resistance. AIMS: This study was aimed to examine the association between BsmI polymorphism and risk of vitamin D deficiency, obesity and insulin resistance in adolescents living in a tropical country...
2017: PloS One
https://www.readbyqxmd.com/read/28615507/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#10
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28607029/age-dependent-protein-abundance-of-cytosolic-alcohol-and-aldehyde-dehydrogenases-in-human-liver
#11
Deepak Kumar Bhatt, Andrea Gaedigk, Robin E Pearce, J Steven Leeder, Bhagwat Prasad
Hepatic cytosolic alcohol and aldehyde dehydrogenases (ADHs and ALDHs) catalyze the biotransformation of xenobiotics (e.g., cyclophosphamide and ethanol) and vitamin A. Because age-dependent hepatic abundance of these proteins is unknown, we quantified protein expression of ADHs and ALDH1A1 in a large cohort of pediatric and adult human livers by LC-MS/MS proteomics. Purified proteins were used as calibrators. Two to three surrogate peptides per protein were quantified in trypsin digests of liver cytosolic samples and calibrator proteins under optimal conditions of reproducibility...
June 12, 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/28594304/role-of-vitamin-d-pathway-gene-polymorphisms-on-rifampicin-plasma-and-intracellular-pharmacokinetics
#12
Sarah Allegra, Giovanna Fatiguso, Andrea Calcagno, Lorena Baietto, Ilaria Motta, Fabio Favata, Jessica Cusato, Stefano Bonora, Giovanni Di Perri, Antonio D'Avolio
AIM: We retrospectively evaluate the pharmacogenetic role of single nucleotide polymorphisms involved in rifampicin transport (SLCO1B1, MDR1 and PXR genes) and vitamin D (VDR, CYP24A1 and CYP27B1 genes) metabolism and activity on drug plasma and intracellular concentrations. PATIENTS & METHODS: Rifampicin Cmax and Ctrough were measured at weeks 2 and 4 using Ultra-Performance Liquid Chromatography-tandem mass spectroscopy methods. Allelic discrimination was performed by real-time polymerase chain reaction...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28594127/no-clear-support-for-a-role-for-vitamin-d-in-parkinson-s-disease-a-mendelian-randomization-study
#13
Susanna C Larsson, Andrew B Singleton, Mike A Nalls, J Brent Richards
BACKGROUND: Observational studies have found that relative to healthy controls, patients with Parkinson's disease have lower circulating concentrations of 25-hydroxyvitamin D, a clinical biomarker of vitamin D status. However, the causality of this association is uncertain. We undertook a Mendelian randomization study to investigate whether genetically decreased 25-hydroxyvitamin D concentrations are associated with PD to minimize confounding and prevent bias because of reverse causation...
June 8, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28590769/associations-of-genetic-polymorphisms-relevant-to-metabolic-pathway-of-vitamin-d3-with-development-and-prognosis-of-childhood-bronchial-asthma
#14
Ying Zhang, Zhansheng Wang, Tongshuai Ma
This study was aimed at investigating the correlation between genetic polymorphisms relevant to metabolic pathway of vitamin D3 (VD3) and susceptibility to childhood bronchial asthma. Altogether 143 childhood patients with bronchial asthma and 143 healthy children of Chinese Han ethnicity were enrolled in this study. The key single-nucleotide polymorphisms (SNPs) were identified by HaploView 4.2 software and selected from previous investigations. Genomic DNAs were isolated from peripheral blood samples by using TaqMan Blood DNA kits...
June 7, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28586461/genetically-low-vitamin-d-concentrations-and-myopic-refractive-error-a-mendelian-randomization-study
#15
Gabriel Cuellar-Partida, Katie M Williams, Seyhan Yazar, Jeremy A Guggenheim, Alex W Hewitt, Cathy Williams, Jie Jin Wang, Pik-Fang Kho, Seang Mei Saw, Ching-Yu Cheng, Tien Yin Wong, Tin Aung, Terri L Young, J Willem L Tideman, Jost B Jonas, Paul Mitchell, Robert Wojciechowski, Dwight Stambolian, Pirro Hysi, Christopher J Hammond, David A Mackey, Robyn M Lucas, Stuart MacGregor
Background: Myopia prevalence has increased in the past 20 years, with many studies linking the increase to reduced time spent outdoors. A number of recent observational studies have shown an inverse association between vitamin D [25(OH)D] serum levels and myopia. However, in such studies it is difficult to separate the effects of time outdoors and vitamin D levels. In this work we use Mendelian randomization (MR) to assess if genetically determined 25(OH)D levels contribute to the degree of myopia...
June 6, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28575224/response-to-antenatal-cholecalciferol-supplementation-is-associated-with-common-vitamin-d-related-genetic-variants
#16
Rebecca J Moon, Nicholas C Harvey, Cyrus Cooper, Stefania D'Angelo, Elizabeth M Curtis, Sarah R Crozier, Sheila J Barton, Sian M Robinson, Keith M Godfrey, Nikki J Graham, John W Holloway, Nicholas J Bishop, Stephen Kennedy, Aris T Papageorghiou, Inez Schoenmakers, Robert Fraser, Saurabh V Gandhi, Ann Prentice, Hazel M Inskip, M Kassim Javaid
Context: Single nucleotide polymorphisms (SNP) in genes related to vitamin D metabolism have been associated with serum 25-hydroxyvitamin D [25(OH)D] concentration, but these relationships have not been examined following antenatal cholecalciferol supplementation. Objective: To determine whether SNPs in DHCR7, CYP2R1, CYP24A1 and GC are associated with the response to gestational cholecalciferol supplementation. Design: Within-randomization-group analysis of the MAVIDOS trial of antenatal cholecalciferol supplementation...
May 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28514598/the-communal-relation-of-mthfr-mtr-ace-gene-polymorphisms-and-hyperhomocysteinemia-as-conceivable-risk-of-coronary-artery-disease
#17
Rizwan Masud, Haider Zaigham Baqai
Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases n = 254, controls n = 250, respectively). Tetra primer allele refractory mutation system (ARMS) PCR was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905)...
May 17, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28495826/genetic-drivers-of-von-willebrand-factor-levels-in-an-ischemic-stroke-population-and-association-with-risk-for-recurrent-stroke
#18
RANDOMIZED CONTROLLED TRIAL
Stephen R Williams, Fang-Chi Hsu, Keith L Keene, Wei-Min Chen, Godfrey Dzhivhuho, Joe L Rowles, Andrew M Southerland, Karen L Furie, Stephen S Rich, Bradford B Worrall, Michèle M Sale
BACKGROUND AND PURPOSE: von Willebrand factor (vWF) plays an important role in thrombus formation during cerebrovascular damage. We sought to investigate the potential role of circulating vWF in recurrent cerebrovascular events and identify genetic contributors to variation in vWF level in an ischemic stroke population. METHODS: We analyzed the effect of circulating vWF on risk of recurrent stroke using survival models in the VISP trial (Vitamin Intervention for Stroke Prevention) and the use of vWF in reclassification over traditional factors...
June 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28492361/influence-of-rs2228570-on-transcriptional-activation-by-the-vitamin-d-receptor-in-human-gingival-fibroblasts-and-periodontal-ligament-cells
#19
Kaining Liu, Bing Han, Huanxin Meng, Jianxia Hou
BACKGROUND: Rs2228570 is the only known single nucleotide polymorphism of the vitamin D receptor (VDR) that alters the protein structure. VDRs can be distinguished using the restriction endonuclease FokI, and accordingly divided into three genotypes: FF, Ff and ff. The influence of rs2228570 on transcriptional activation by VDR in human gingival fibroblasts (hGFs) and periodontal ligament cells (hPDLCs) was investigated in this study. METHODS: hGFs and hPDLCs from 15 donors were cultured, genomic DNA was extracted, and genotypes were determined using the PCR-RFLP method...
May 11, 2017: Journal of Periodontology
https://www.readbyqxmd.com/read/28489590/polymorphisms-of-vdr-gene-and-risk-of-gastric-cardiac-adenocarcinoma-in-chinese-population
#20
Jun Yin, Huiwen Pan, Tao Long, Lu Lv, Peng Zhai, Chao Liu, Aizhong Shao, Yijun Shi, Yangyong Sun, Jingfeng Zhu, Liming Wang, Guowen Ding, Suocheng Chen, Weifeng Tang, Cheng Qian, Lijie Tan, Haiyong Gu
Vitamin D receptor (VDR) gene polymorphisms have been reported to increase susceptibility to some malignant tumors, yet the effect on gastric cardiac adenocarcinoma susceptibility remains unknown. Here, we conducted a hospital-based case-control study to examine the correlation of single nucleotide polymorphisms of VDR rs2107301T>C, rs2228570C>T, rs1989969C>T and rs11568820 G>A and gastric cardiac adenocarcinoma susceptibility. A total 330 cases and 608 controls were enrolled in the study. Using ligation detection reaction, we found that the variant alleles of the four polymorphisms were not associated with risk of gastric cardiac adenocarcinoma...
July 11, 2017: Oncotarget
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