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Single nucleotide polymorphism and vitamins

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
May 11, 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
#13
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
#14
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...
April 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28488893/vdr-rankl-and-opg-polymorphisms-as-possible-predisposing-cofactors-of-postmenopausal-osteoporosis-explorative-study-in-italian-population
#15
Elisabetta Mamolini, Carlo Cervellati, Pantaleo Greco, Alberto Carrieri, Leo Massari, Ilaria Crivellari, Chiara Scapoli, Gloria Bonaccorsi
Postmenopausal osteoporosis (PO) has a strong genetic component. Presently, the published evidence on the association between the main single-nucleotide polymorphisms (SNPs) of the receptor activator of nuclear factor-kb ligand (RANKL), osteoprotegerin (OPG) and vitamin D receptor (VDR) and bone mass density (BMD) are scarce, mostly considering Italian population. This study sought to determine whether OPG (rs2073618), RANKL (rs9525641) and the VDR (rs2228570) SNPs were associated with BMD in a sample of 139 North-Italian postmenopausal women...
May 10, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28486474/vitamin-d-levels-and-susceptibility-to-asthma-elevated-immunoglobulin-e-levels-and-atopic-dermatitis-a-mendelian-randomization-study
#16
Despoina Manousaki, Lavinia Paternoster, Marie Standl, Miriam F Moffatt, Martin Farrall, Emmanuelle Bouzigon, David P Strachan, Florence Demenais, Mark Lathrop, William O C M Cookson, J Brent Richards
BACKGROUND: Low circulating vitamin D levels have been associated with risk of asthma, atopic dermatitis, and elevated total immunoglobulin E (IgE). These epidemiological associations, if true, would have public health importance, since vitamin D insufficiency is common and correctable. METHODS AND FINDINGS: We aimed to test whether genetically lowered vitamin D levels were associated with risk of asthma, atopic dermatitis, or elevated serum IgE levels, using Mendelian randomization (MR) methodology to control bias owing to confounding and reverse causation...
May 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28446629/vitamin-d-receptor-and-megalin-gene-polymorphisms-are-associated-with-longitudinal-cognitive-change-among-african-american-urban-adults
#17
May A Beydoun, Salman M Tajuddin, Greg A Dore, Jose-Atilio Canas, Hind A Beydoun, Michele K Evans, Alan B Zonderman
Background: The link between longitudinal cognitive change and polymorphisms in the vitamin D receptor (VDR) and MEGALIN [or LDL receptor-related protein 2 (LRP2)] genes remains unclear, particularly among African-American (AA) adults.Objectives: We aimed to evaluate associations of single nucleotide polymorphisms (SNPs) for VDR [rs11568820 (Cdx-2:T/C), rs1544410 (BsmI:G/A), rs7975232 (ApaI:A/C), rs731236 (TaqI:G/A)] and LRP2 [rs3755166:G/A,rs2075252:C/T, rs2228171:C/T] genes with longitudinal cognitive performance change in various domains of cognition...
June 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28424184/demographic-lifestyle-and-genetic-determinants-of-circulating-concentrations-of-25-hydroxyvitamin-d-and-vitamin-d-binding-protein-in-african-american-and-european-american-women
#18
Song Yao, Chi-Chen Hong, Elisa V Bandera, Qianqian Zhu, Song Liu, Ting-Yuan David Cheng, Gary Zirpoli, Stephen A Haddad, Kathryn L Lunetta, Edward A Ruiz-Narvaez, Susan E McCann, Melissa A Troester, Lynn Rosenberg, Julie R Palmer, Andrew F Olshan, Christine B Ambrosone
Background: Vitamin D may have anticancer activities. The high prevalence of vitamin D deficiency in African Americans (AAs) may be a contributing factor to the cancer health disparities between AAs and European Americans (EAs).Objectives: We compared concentrations of 25(OH)D and vitamin D-binding protein (VDBP) in AA and EA women and investigated determinants of the vitamin D-biomarker concentrations in both populations.Design: We used data and biospecimens from 909 AA and 847 EA healthy control subjects from the Carolina Breast Cancer Study (CBCS) and the Women's Circle of Health Study (WCHS) in the African American Breast Cancer Epidemiology and Risk Consortium...
June 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28423480/the-effect-of-high-dose-vitamin-d-supplementation-on-muscular-function-and-quality-of-life-in-postmenopausal-women-a-randomized-controlled-trial
#19
G Grimnes, N Emaus, K D Cashman, R Jorde
OBJECTIVE: Observational studies have suggested positive associations between serum 25-hydroxyvitamin D (25(OH)D) levels and muscular strength, balance and quality of life. Our aim was to examine whether high-dose vitamin D supplementation would improve these measures as compared to standard-dose vitamin D, as well as the possible muscular effects of single nucleotide polymorphisms (SNPs) in genes encoding vitamin D-related enzymes. DESIGN: A 12-month randomized, double-blind, controlled trial where the participants received daily elemental calcium (1000 mg) plus vitamin D3 (800 IU)...
April 19, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28407346/vitamin-d-receptor-gene-polymorphisms-in-serbian-patients-with-bronchial-asthma-a-case-control-study
#20
Milena Despotovic, Tatjana Jevtovic Stoimenov, Ivana Stankovic, Jelena Basic, Dusica Pavlovic
Vitamin D and single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) gene are potentially involved in the pathogenesis of bronchial asthma (BA); however, precise mechanisms by which vitamin D reduces the inflammation and the role of VDR SNPs in BA are not completely understood. The aim of this study was to examine the possible associations of FokI, BsmI, ApaI, and TaqI SNPs with BA. A total of 168 subjects were screened for VDR SNPs using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method...
April 13, 2017: Journal of Cellular Biochemistry
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