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Single nucleotide polymorphism and vitamins

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https://www.readbyqxmd.com/read/28514598/the-communal-relation-of-mthfr-mtr-ace-gene-polymorphisms-and-hyperhomocysteinemia-as-conceivable-risk-of-coronary-artery-disease
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
April 26, 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
#8
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...
April 19, 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
#9
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
#10
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
https://www.readbyqxmd.com/read/28399564/interactions-between-genome-wide-significant-genetic-variants-and-circulating-concentrations-of-25-hydroxyvitamin-d-in-relation-to-prostate-cancer-risk-in-the-national-cancer-institute-bpc3
#11
Vasiliki I Dimitrakopoulou, Ruth C Travis, Irene M Shui, Alison Mondul, Demetrius Albanes, Jarmo Virtamo, Antonio Agudo, Heiner Boeing, H Bas Bueno-de-Mesquita, Marc J Gunter, Mattias Johansson, Kay-Tee Khaw, Kim Overvad, Domenico Palli, Antonia Trichopoulou, Edward Giovannucci, David J Hunter, Sara Lindström, Walter Willett, J Michael Gaziano, Meir Stampfer, Christine Berg, Sonja I Berndt, Amanda Black, Robert N Hoover, Peter Kraft, Timothy J Key, Konstantinos K Tsilidis
Genome-wide association studies (GWAS) have identified over 100 single nucleotide polymorphisms (SNPs) associated with prostate cancer. However, information on the mechanistic basis for some associations is limited. Recent research has been directed towards the potential association of vitamin D concentrations and prostate cancer, but little is known about whether the aforementioned genetic associations are modified by vitamin D. We investigated the associations of 46 GWAS-identified SNPs, circulating concentrations of 25-hydroxyvitamin D (25(OH)D), and prostate cancer (3,811 cases, 511 of whom died from the disease, compared with 2,980 controls-from 5 cohort studies that recruited participants over several periods beginning in the 1980s)...
March 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28388281/the-vitamin-d-receptor-functional-variant-rs2228570-c-t-does-not-associate-with-type-2-diabetes-mellitus
#12
Laura Bertoccini, Federica Sentinelli, Frida Leonetti, Diego Bailetti, Danila Capoccia, Flavia A Cimini, Ilaria Barchetta, Michela Incani, Andrea Lenzi, Efisio Cossu, M Gisella Cavallo, Marco G Baroni
AIM: Vitamin D acts through the binding to the vitamin D receptor (VDR). Several polymorphisms in VDR gene have been studied. Among these, the rs2228570 C>T (FokI) variant has been demonstrated to be functional, leading to a protein with a different size and activity. So far, genetic studies on the association between VDR gene rs2228570 single nucleotide polymorphism (SNP) and type 2 diabetes mellitus (T2DM) showed contradictory results. Thus, we performed an association study in a large cohort of adult Italian subjects with T2DM and in nondiabetic controls...
April 7, 2017: Endocrine Research
https://www.readbyqxmd.com/read/28384983/association-study-of-vitamin-d-receptor-vdr-related-genetic-polymorphisms-and-their-haplotypes-with-chronic-periodontitis-in-colombian-population
#13
Sergio Iván Tobón-Arroyave, Diana María Isaza-Guzmán, Nicolás Pineda-Trujillo
INTRODUCTION: There is strong evidence that both genetic and environmental factors may affect the periodontal clinical status. However, epidemiological evidence on the association between Vitamin D Receptor (VDR) polymorphisms and Chronic Periodontitis (CP) has been inconsistent. AIM: The focus of this study was to identify if a possible association between VDR Single-Nucleotide Polymorphisms (SNPs) may be implicated in the aetiopathogenesis of CP in Colombian population...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28384046/cross-validation-of-high-resolution-melting-analysis-based-genotyping-platform
#14
Taimour Langaee, Lynda Stauffer, Cheryl Galloway, Mohamed H Solayman, Larisa Cavallari
AIMS: Developing genetic and pharmacogenetic panels enhances genetic testing in clinical molecular diagnostics and precision medicine. This study was designed to cross-validate the performance of Canon's multiplex high-resolution DNA melting analysis platform with the Applied Biosystems TaqMan(®)-based Quant Studio Real-Time PCR System and Pyrosequencing(®) genotyping platforms for common genetic polymorphisms of the vitamin K epoxide reductase complex 1 (VKORC1) and CYP2C9. MATERIALS AND METHODS: Genomic DNA isolated from 240 blood and saliva samples was used to genotype the VKORC1-1639 G/A (rs9923231), CYP2C9*2 (430C>T, rs28371674), and CYP2C9*3 (1075A>C, rs1057910) single-nucleotide polymorphisms (SNPs) on the three above-mentioned genotyping platforms...
April 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28380424/association-of-vegf-and-vdr-gene-gene-and-gene-smoking-interaction-on-risk-of-multiple-myeloma-in-chinese-han-population
#15
Peng Chen, Zhen-Lan Du, Yuan Zhang, Bing Liu, Zhi Guo, Jin-Xing Lou, Xue-Peng He, Hui-Ren Chen
AIMS: To investigate the association of several single nucleotide polymorphisms (SNPs) within vascular endothelial growth factor (VEGF) and vitamin D receptor (VDR) gene polymorphisms and additional gene- gene and gene- smoking interaction with multiple myeloma (MM) risk in Chinese population. METHODS: Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs and smoking. Logistic regression was performed to investigate association between 6 SNPs within VEGF and VDR gene, additional gene- gene and gene- smoking interaction on MM risk...
March 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28358908/pharmacogenomics-study-on-cadherin-2-network-with-regard-to-hiv-infection-and-methadone-treatment-outcome
#16
Hsiang-Wei Kuo, Chia-Lung Shih, Jieh-Hen Tsung, Sheng-Wen Liu, Shih-Kai Chu, Hsin-Chou Yang, Hsiao-Hui Tsou, Zih-Hsiang Wang, Andrew C H Chen, Yu-Li Liu
Heroin dependent patients have a high incidence of HIV infection. In contrast to the gene expression method, we developed a systemic correlation analysis method built upon the results of pharmacogenomics study in a methadone maintenance treatment (MMT) cohort consisting of 344 Taiwanese heroin dependent patients. We identified genetic variants and their encoding proteins that may be involved with HIV infection and MMT treatment outcome. Cadherin 2 (CDH2) genetic determinants were identified through the genome-wide pharmacogenomic study...
2017: PloS One
https://www.readbyqxmd.com/read/28344492/cyp2c9-cypc19-and-cyp2d6-gene-profiles-and-gene-susceptibility-to-drug-response-and-toxicity-in-turkish-population
#17
Merve Arici, Gül Özhan
Pharmacogenetics is a vast field covering drug discovery research, the genetic basis of pharmacokinetics and dynamics, genetic testing and clinical management in diseases. Pharmacogenetic approach usually focuses on variations of drug transporters, drug targets, drug metabolizing enzymes and other biomarker genes. Cytochrome P450 (CYP) enzymes, an essential source of variability in drug-response, play role in not only phase I-dependent metabolism of xenobiotics but also metabolism of endogenous compounds such as steroids, vitamins and fatty acids...
March 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28296915/genetic-variation-in-the-vitamin-d-pathway-cyp2r1-gene-predicts-sustained-hbeag-seroconversion-in-chronic-hepatitis-b-patients-treated-with-pegylated-interferon-a-multicenter-study
#18
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjareon, Tawesak Tanwandee, Phunchai Charatcharoenwitthaya, Satawat Thongsawat, Apinya Leerapun, Teerha Piratvisuth, Rattana Boonsirichan, Chalermrat Bunchorntavakul, Chaowalit Pattanasirigool, Bubpha Pornthisarn, Supot Tantipanichtheerakul, Ekawee Sripariwuth, Woramon Jeamsripong, Teeranan Sanpajit, Yong Poovorawan, Piyawat Komolmit
Evidence of a role of vitamin D in the immune system is increasing. Low serum vitamin D is associated with increased hepatitis B virus replication. Genome-wide association study (GWAS) data has revealed a number of the single nucleotide polymorphisms (SNPs) within the vitamin D synthetic pathway that affect vitamin D functions. We aimed to determine the association between SNPs in the vitamin D gene cascade and response to pegylated interferon (PegIFN) therapy in hepatitis B e-antigen (HBeAg)-positive patients...
2017: PloS One
https://www.readbyqxmd.com/read/28291736/association-of-vitamin-d-related-genetic-variations-and-treatment-response-to-pegylated-interferon-in-patients-with-chronic-hepatitis-b
#19
Umaporn Limothai, Natthaya Chuaypen, Apichaya Khlaiphuengsin, Salyavit Chittmittraprap, Yong Poovorawan, Pisit Tangkijvanich
BACKGROUND: Vitamin D, a potent immune-modulator, has been linked to the pathogenesis of chronic hepatitis B (CHB). This study was aimed at investigating the association between single nucleotide polymorphisms (SNPs) in vitamin D-related genes and treatment response to pegylated interferon (PEG-IFN) in patients with CHB. METHODS: A total 275 Thai patients (122 HBeAg-positive and 153 HBeAg-negative CHB) treated with 48-week PEG-IFN were recruited. Virological response (VR) at 48 weeks post treatment was defined as HBeAg seroconversion plus HBV DNA <2,000 IU/mL for HBeAg-positive CHB and HBV DNA <2,000 IU/mL for HBeAg-negative CHB...
March 14, 2017: Antiviral Therapy
https://www.readbyqxmd.com/read/28282870/genetic-variations-associated-with-vitamin-a-status-and-vitamin-a-bioavailability
#20
REVIEW
Patrick Borel, Charles Desmarchelier
Blood concentration of vitamin A (VA), which is present as different molecules, i.e., mainly retinol and provitamin A carotenoids, plus retinyl esters in the postprandial period after a VA-containing meal, is affected by numerous factors: dietary VA intake, VA absorption efficiency, efficiency of provitamin A carotenoid conversion to VA, VA tissue uptake, etc. Most of these factors are in turn modulated by genetic variations in genes encoding proteins involved in VA metabolism. Genome-wide association studies (GWAS) and candidate gene association studies have identified single nucleotide polymorphisms (SNPs) associated with blood concentrations of retinol and β-carotene, as well as with β-carotene bioavailability...
March 8, 2017: Nutrients
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