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Single nucleotide polymorphism and vitamins

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https://www.readbyqxmd.com/read/28029444/associations-between-serum-vitamin-d-and-genetic-variants-in-vitamin-d-pathways-and-age-related-macular-degeneration-in-the-european-eye-study
#1
Gareth J McKay, Ian S Young, Ann McGinty, Graham C G Bentham, Usha Chakravarthy, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Jesus Vioque, Paulus T V M de Jong, Astrid E Fletcher
PURPOSE: To study associations between early and late age-related macular degeneration (AMD) and neovascular AMD (nvAMD) with serum 25-hydroxy vitamin D (25(OH)D) and genetic variants in vitamin D pathway genes. DESIGN: Population-based, cross-sectional study in a random sample aged 65 years or older from 7 European countries. PARTICIPANTS: Of 4753 participants, 4496 (2028 men and 2468 women), with a mean age of 73 years, provided a blood sample; 2137 had no signs of AMD, 2209 had early AMD, and 150 had late AMD, of whom 104 had nvAMD...
October 28, 2016: Ophthalmology
https://www.readbyqxmd.com/read/28008453/association-of-vdbp-and-cyp2r1-gene-polymorphisms-with-vitamin-d-status-in-women-with-polycystic-ovarian-syndrome-a-north-indian-study
#2
Deepa Haldar, Nitin Agrawal, Seema Patel, Pankaj Ramrao Kambale, Kanchan Arora, Aditi Sharma, Manish Tripathi, Aruna Batra, Bhaskar C Kabi
PURPOSE: Polycystic ovarian syndrome (PCOS) is the most common endocrine abnormality among women of reproductive age and is usually associated with oligo-ovulation/anovulation, obesity, and insulin resistance. Hypovitaminosis D may also be a primary factor in the initiation and development of PCOS. However, little is known about the role of genetic variation in vitamin D metabolism in PCOS aetiology. Therefore, we studied the genetic polymorphisms of CYP2R1 and vitamin D binding protein (VDBP) in an Indian population...
December 23, 2016: European Journal of Nutrition
https://www.readbyqxmd.com/read/27993622/genome-wide-snp-genotyping-resolves-signatures-of-selection-and-tetrasomic-recombination-in-peanut
#3
Josh Clevenger, Ye Chu, Carolina Chavarro, Gaurav Agarwal, David J Bertioli, Soraya C M Leal-Bertioli, Manish K Pandey, Justin Vaughn, Brian Abernathy, Noelle A Barkley, Ran Hovav, Mark Burow, Spurthi N Nayak, Annapurna Chitikineni, Thomas G Isleib, C Corley Holbrook, Scott A Jackson, Rajeev K Varshney, Peggy Ozias-Akins
Peanut (Arachis hypogaea; 2n = 4x = 40), is a nutritious food and a good source of vitamins, minerals, and healthy fats. Expansion of genetic and genomic resources for genetic enhancement of cultivated peanut has gained momentum from the sequenced genomes of the diploid ancestors of cultivated peanut. To facilitate high throughput genotyping of Arachis species, 20 genotypes were re-sequenced and genome-wide single nucleotide polymorphisms (SNPs) were selected to develop a large-scale SNP genotyping array. For flexibility in genotyping applications, SNPs polymorphic between tetraploid and diploid species were included for use in cultivated and interspecific populations...
December 16, 2016: Molecular Plant
https://www.readbyqxmd.com/read/27983595/genetic-variations-involved-in-vitamin-e-status
#4
REVIEW
Patrick Borel, Charles Desmarchelier
Vitamin E (VE) is the generic term for four tocopherols and four tocotrienols that exhibit the biological activity of α-tocopherol. VE status, which is usually estimated by measuring fasting blood VE concentration, is affected by numerous factors, such as dietary VE intake, VE absorption efficiency, and VE catabolism. Several of these factors are in turn modulated by genetic variations in genes encoding proteins involved in these factors. To identify these genetic variations, two strategies have been used: genome-wide association studies and candidate gene association studies...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27978548/vitamin-d-receptor-genotype-vitamin-d3-supplementation-and-risk-of-colorectal-adenomas-a-randomized-clinical-trial
#5
Elizabeth L Barry, Janet L Peacock, Judy R Rees, Roberd M Bostick, Douglas J Robertson, Robert S Bresalier, John A Baron
Importance: Despite epidemiological and preclinical evidence suggesting that vitamin D and calcium inhibit colorectal carcinogenesis, daily supplementation with these nutrients for 3 to 5 years was not found to significantly reduce the risk of recurrent colorectal adenomas in a recent randomized clinical trial. Objective: To investigate whether common variants in 7 vitamin D and calcium pathway genes (VDR, GC, DHCR7, CYP2R1, CYP27B1, CYP24A1, and CASR) modify the effects of vitamin D3 or calcium supplementation on colorectal adenoma recurrence...
December 15, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27973470/nutritional-rickets-vitamin-d-calcium-and-the-genetic-make-up
#6
Mohamed El Kholy, Heba Elsedfy, Monica Fernández-Cancio, Rasha Tarif Hamza, Nermine Hussein Amr, Alaa Youssef Ahmed, Nadin Nabil Toaima, Laura Audí
BACKGROUND: The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS: Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing...
December 14, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27937091/personal-genomic-testing-for-cancer-risk-results-from-the-impact-of-personal-genomics-study
#7
Stacy W Gray, Sarah E Gollust, Deanna Alexis Carere, Clara A Chen, Angel Cronin, Sarah S Kalia, Huma Q Rana, Mack T Ruffin, Catharine Wang, J Scott Roberts, Robert C Green
Purpose Significant concerns exist regarding the potential for unwarranted behavior changes and the overuse of health care resources in response to direct-to-consumer personal genomic testing (PGT). However, little is known about customers' behaviors after PGT. Methods Longitudinal surveys were given to new customers of 23andMe (Mountain View, CA) and Pathway Genomics (San Diego, CA). Survey data were linked to individual-level PGT results through a secure data transfer process. Results Of the 1,042 customers who completed baseline and 6-month surveys (response rate, 71...
December 12, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27927781/genetic-variants-associated-with-circulating-parathyroid-hormone
#8
Cassianne Robinson-Cohen, Pamela L Lutsey, Marcus E Kleber, Carrie M Nielson, Braxton D Mitchell, Joshua C Bis, Karen M Eny, Laura Portas, Joel Eriksson, Mattias Lorentzon, Daniel L Koller, Yuri Milaneschi, Alexander Teumer, Stefan Pilz, Maria Nethander, Elizabeth Selvin, Weihong Tang, Lu-Chen Weng, Hoi Suen Wong, Dongbing Lai, Munro Peacock, Anke Hannemann, Uwe Völker, Georg Homuth, Matthias Nauk, Federico Murgia, Jack W Pattee, Eric Orwoll, Joseph M Zmuda, Jose Antonio Riancho, Myles Wolf, Frances Williams, Brenda Penninx, Michael J Econs, Kathleen A Ryan, Claes Ohlsson, Andrew D Paterson, Bruce M Psaty, David S Siscovick, Jerome I Rotter, Mario Pirastu, Elizabeth Streeten, Winfried März, Caroline Fox, Josef Coresh, Henri Wallaschofski, James S Pankow, Ian H de Boer, Bryan Kestenbaum
Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies (n=22,653 and n=6502 in discovery and replication analyses, respectively)...
December 7, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27918775/association-between-myopia-ultraviolet-b-radiation-exposure-serum-vitamin-d-concentrations-and-genetic-polymorphisms-in-vitamin-d-metabolic-pathways-in-a-multicountry-european-study
#9
Katie M Williams, Graham C G Bentham, Ian S Young, Ann McGinty, Gareth J McKay, Ruth Hogg, Christopher J Hammond, Usha Chakravarthy, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Astrid E Fletcher
Importance: Myopia is becoming increasingly common globally and is associated with potentially sight-threatening complications. Spending time outdoors is protective, but the mechanism underlying this association is poorly understood. Objective: To examine the association of myopia with ultraviolet B radiation (UVB; directly associated with time outdoors and sunlight exposure), serum vitamin D concentrations, and vitamin D pathway genetic variants, adjusting for years in education...
January 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27917384/genetic-alterations-in-intervertebral-disc-disease
#10
REVIEW
Nikolay L Martirosyan, Arpan A Patel, Alessandro Carotenuto, M Yashar S Kalani, Evgenii Belykh, Corey T Walker, Mark C Preul, Nicholas Theodore
BACKGROUND: Intervertebral disc degeneration (IVDD) is considered a multifactorial disease that is influenced by both environmental and genetic factors. The last two decades of research strongly demonstrate that genetic factors contribute about 75% of the IVDD etiology. Recent total genome sequencing studies have shed light on the various single-nucleotide polymorphisms (SNPs) that are associated with IVDD. AIM: This review presents comprehensive and updated information about the diversity of genetic factors in the inflammatory, degradative, homeostatic, and structural systems involved in the IVDD...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27906437/vitamin-d-receptor-polymorphisms-as-tool-for-early-screening-of-severe-bone-loss-in-women-patients-with-rheumatoid-arthritis
#11
G Di Spigna, A Del Puente, B Covelli, E Abete, E Varriale, S Salzano, L Postiglione
OBJECTIVE: Rheumatoid Arthritis (RA) is an autoimmune inflammatory disease that leads to local and systemic arthritis and bone loss. Exploring genetic markers of candidate genes in osteoporosis and inflammatory cytokine genes could be a useful tool for the early identification of bone loss and fracture risk in RA patients. The target of this study is the evaluation and correlation between of Single Nucleotide Polymorphisms (SNPs) of Vitamin D Receptor (VDR) and possible effects on bone loss in RA...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27901035/homocysteine-reducing-b-vitamins-and-ischemic-heart-disease-a-separate-sample-mendelian-randomization-analysis
#12
J V Zhao, C M Schooling
BACKGROUND/OBJECTIVES: Observationally, homocysteine is positively associated with ischemic heart disease (IHD) and unhealthy lipids; folate and vitamin B12, which reduce homocysteine, are associated with lower IHD risk and healthy lipids. Randomized controlled trials have shown no benefits of folate and vitamin B12 for IHD. To clarify the role of these potential targets of intervention in IHD we assessed how genetically determined homocysteine, folate and vitamin-B12-affected IHD and lipids...
November 30, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27889279/vitamin-k-epoxide-reductase-expression-and-prostate-cancer-risk
#13
Ben Yi Tew, Sumanta K Pal, Miaoling He, Tommy Tong, Huiqing Wu, JoAnn Hsu, Xueli Liu, Susan L Neuhausen, Jeremy O Jones
PURPOSE: Increasing evidence has demonstrated that men taking the anticoagulant warfarin have a lower risk of developing prostate cancer. This phenomenon is not observed in other cancers. We sought to determine if the target of warfarin, vitamin K epoxide reductase (VKOR), is expressed in benign and cancerous prostate tissues and if a functional single nucleotide polymorphism (SNP) in the VKOR gene is associated with prostate cancer risk. MATERIALS AND METHODS: The expression of VKOR was quantified by immunohistochemistry in an institutional series of 54 radical prostatectomy samples and metastatic biopsies, as well as in 40 other cancers and matched benign tissues on a tissue microarray...
November 23, 2016: Urologic Oncology
https://www.readbyqxmd.com/read/27856775/genetically-decreased-vitamin-d-and-risk-of-alzheimer-disease
#14
Lauren E Mokry, Stephanie Ross, John A Morris, Despoina Manousaki, Vincenzo Forgetta, J Brent Richards
OBJECTIVE: To test whether genetically decreased vitamin D levels are associated with Alzheimer disease (AD) using mendelian randomization (MR), a method that minimizes bias due to confounding or reverse causation. METHODS: We selected single nucleotide polymorphisms (SNPs) that are strongly associated with 25-hydroxyvitamin D (25OHD) levels (p < 5 × 10(-8)) from the Study of Underlying Genetic Determinants of Vitamin D and Highly Related Traits (SUNLIGHT) Consortium (N = 33,996) to act as instrumental variables for the MR study...
December 13, 2016: Neurology
https://www.readbyqxmd.com/read/27834325/lack-of-association-between-foki-polymorphism-in-vitamin-d-receptor-gene-vdr-type-2-diabetes-mellitus-in-the-tunisian-population
#15
Imen Mahjoubi, Amani Kallel, Mohamed Hédi Sbaï, Bochra Ftouhi, Meriam Ben Halima, Zeineb Jemaa, Moncef Feki, Hedia Slimane, Riadh Jemaa, Naziha Kaabachi
BACKGROUND & OBJECTIVES: The impact of several environmental and genetic factors on diabetes is well documented. Though the association between the vitamin D receptor (VDR) gene polymorphisms and type 2 diabetes mellitus (T2DM) has been analyzed in different ethnic groups, the results have been inconsistent. The aim of this study was to evaluate the possible association between VDR FokI polymorphism and genetic susceptibility to T2DM in Tunisian population. METHODS: A total of 439 unrelated patients with T2DM and 302 healthy controls were included in the study...
July 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27825992/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-adults-with-inhaled-corticosteroid-treated-asthma-in-london-uk
#16
REVIEW
David A Jolliffe, Kate Kilpin, Beverley D MacLaughlin, Claire L Greiller, Richard L Hooper, Neil C Barnes, Peter M Timms, Raj K Rajakulasingam, Angshu Bhowmik, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Christopher J Corrigan, Robert T Walton, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in children with asthma, and it associates with poor asthma control, reduced forced expiratory volume in one second (FEV1) and increased requirement for inhaled corticosteroids (ICS). Cross-sectional studies investigating the prevalence, determinants and clinical correlates of vitamin D deficiency in adults with asthma are lacking. We conducted a multi-centre cross-sectional study in 297 adults with a medical record diagnosis of ICS-treated asthma living in London, UK. Details of potential environmental determinants of vitamin D status, asthma control and medication use were collected by questionnaire; blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction, and participants underwent measurement of weight, height and fractional exhaled nitric oxide concentration (FeNO), spirometry and sputum induction for determination of lower airway eosinophil counts (n=35 sub-group)...
November 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27813049/genetic-expression-profile-of-vitamin-d-metabolizing-enzymes-in-the-first-trimester
#17
L Ekström, L Storbjörk, L Björkhem-Bergman
The aim of this study was to map the genetic expression of the vitamin D metabolizing enzymes CYP27A, CYP27B1, CYP2R1, and CYP24A1 in the first trimester in different human fetal tissues. In addition, the gene expression was correlated with fetal age, season, and presence of single nucleotide polymorphisms (SNPs) in the genes encoding CYP27A1 (rs4674344), CYP2R1 (rs2060793), and CYP24A1 (rs6013897). Fetal samples from livers (n=60), kidneys (n=43), lungs (n=37), and intestines (n=14) were analyzed by quantitative PCR...
December 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27798339/a-combination-of-single-nucleotide-polymorphisms-is-associated-with-interindividual-variability-in-cholecalciferol-bioavailability-in-healthy-men
#18
Charles Desmarchelier, Patrick Borel, Aurélie Goncalves, Rachel Kopec, Marion Nowicki, Sophie Morange, Nathalie Lesavre, Henri Portugal, Emmanuelle Reboul
BACKGROUND: Most people require dietary vitamin D to achieve the recommended concentration of 25-hydroxyvitamin D [25(OH)D] in the blood. However, the response to vitamin D supplementation is highly variable among individuals. OBJECTIVE: We assessed whether the variability in cholecalciferol bioavailability was associated with single-nucleotide polymorphisms (SNPs) in candidate genes. METHODS: In a single-group design, 39 healthy adult men with a mean ± SD age of 33 ± 2 y and mean ± SD body mass index (in kg/m(2)) of 22...
December 2016: Journal of Nutrition
https://www.readbyqxmd.com/read/27778467/association-between-vitamin-d-receptor-gene-polymorphism-and-ankylosing-spondylitis-in-han-chinese
#19
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
https://www.readbyqxmd.com/read/27760518/fine-mapping-of-a-qtl-on-bovine-chromosome-6-using-imputed-full-sequence-data-suggests-a-key-role-for-the-group-specific-component-gc-gene-in-clinical-mastitis-and-milk-production
#20
Hanne Gro Olsen, Tim Martin Knutsen, Anna M Lewandowska-Sabat, Harald Grove, Torfinn Nome, Morten Svendsen, Mariann Arnyasi, Marte Sodeland, Kristil K Sundsaasen, Sandra Rinne Dahl, Bjørg Heringstad, Hanne H Hansen, Ingrid Olsaker, Matthew Peter Kent, Sigbjørn Lien
BACKGROUND: Clinical mastitis is an inflammation of the mammary gland and causes significant costs to dairy production. It is unfavourably genetically correlated to milk production, and, thus, knowledge of the mechanisms that underlie these traits would be valuable to improve both of them simultaneously through breeding. A quantitative trait locus (QTL) that affects both clinical mastitis and milk production has recently been fine-mapped to around 89 Mb on bovine chromosome 6 (BTA6), but identification of the gene that underlies this QTL was not possible due to the strong linkage disequilibrium between single nucleotide polymorphisms (SNPs) within this region...
October 19, 2016: Genetics, Selection, Evolution: GSE
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