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Single nucleotide polymorphism and vitamins

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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
#1
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
#2
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
#3
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
#4
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...
November 16, 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
#5
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
#6
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
#7
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...
November 3, 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
#8
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...
October 26, 2016: Journal of Nutrition
https://www.readbyqxmd.com/read/27778467/association-between-vitamin-d-receptor-gene-polymorphism-and-ankylosing-spondylitis-in-han-chinese
#9
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
#10
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
https://www.readbyqxmd.com/read/27751997/vkorc1-gene-vitamin-k-epoxide-reductase-polymorphisms-are-associated-with-cardiovascular-disease-in-chronic-kidney-disease-patients-on-hemodialysis
#11
Noha A Osman, Nevine El-Abd, Mohamed Nasrallah
Vitamin K is necessary for the carboxylation of clotting factors and matrix Gla protein (MGP). Vitamin K epoxide reductase (VKOR) is the enzyme responsible for recirculation of Vitamin K increasing its tissue availability. Polymorphisms of VKOR may alter the function of MGP, thereby influencing vascular calcification. We conducted this study to investigate the relationship of VKORC1 gene single nucleotide polymorphisms (SNP's) to vascular calcification and clinically overt cardiovascular disease in chronic kidney disease (CKD) patients on hemodialysis (HD)...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27743182/linkage-disequilibrium-between-the-cyp2c19-2-17-and-cyp2c9-1-alleles-and-impact-of-vkorc1-cyp2c9-cyp2c19-gene-polymorphisms-and-gene-gene-interactions-on-warfarin-therapy
#12
Koroush Khalighi, Gang Cheng, Seyedabbas Mirabbasi, Bahar Khalighi, Yin Wu, Wuqiang Fan
Warfarin therapy is complicated by its large inter-individual and intra-individual variability. Both genetic and non-genetic factors can affect warfarin therapy. This study aims to investigate the allele distribution of VKORC1, CYP2C9 and CYP2C19, contribution of different allele variants and possible gene-gene interaction on warfarin therapy. Four hundreds and ninety-two patients were enrolled and single nucleotide polymorphisms for vitamin K epoxide reductase complex subunit 1 (VKORC1), cytochrome P450 CYP2C9 and cytochrome P450 CYP2C19 were genotyped...
October 14, 2016: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/27736940/vitamin-d-receptor-gene-polymorphism-and-the-risk-of-colorectal-cancer-a-nested-case-control-study
#13
Sanjeev Budhathoki, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Taichi Shimazu, Shizuka Sasazuki, Teruhiko Yoshida, Shoichiro Tsugane
Epidemiological and experimental evidence suggest that vitamin D is protective against the risk of colorectal cancer. Polymorphisms in the gene encoding vitamin D receptor (VDR), which mediates most of the known cellular effects of vitamin D, have been suggested to alter this association. Here, using a tag SNP approach, we comprehensively evaluated the role of common genetic variants in VDR and their interaction with plasma vitamin D levels in relation to colorectal cancer risk in Japanese populations. A total of 356 colorectal cancer cases and 709 matched control subjects were selected from the participants of the Japan Public Health Center-based Prospective Cohort Study...
2016: PloS One
https://www.readbyqxmd.com/read/27703968/g-1639a-but-not-c1173t-vkorc1-gene-polymorphism-is-related-to-ischemic-stroke-and-its-various-risk-factors-in-ukrainian-population
#14
Yevhen I Dubovyk, Viktoriia Yu Harbuzova, Alexander V Ataman
Vitamin K epoxide reductase complex subunit 1 (VKORC1) is integral 163-amino acid long transmembrane protein which mediates recycling of vitamin K 2,3-epoxide to vitamin K hydroquinone and it is necessary for activation of vitamin K-dependent proteins (VKDPs). Herein, the association between G-1639A (rs9923231) and C1173T (rs9934438) single-nucleotide polymorphisms (SNPs) of the VKORC1 gene and ischemic stroke (IS) was tested in Ukrainian population. Genotyping was performed in 170 IS patients and 124 control subjects (total 294 DNA samples) using PCR-RFLP (polymerase chain reaction with following restriction fragment length polymorphism analysis) method...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27698765/association-of-genetic-polymorphisms-of-galnt3-and-vdr-with-osteoporosis-in-postmenopausal-women
#15
Guorong Wang, Junhua Yang, Xun Zheng, Jiahua Zhu, Wangqing Shi, Aimin Chen, Guoxian Chen, Fangye Zhou
The correlation of genetic polymorphisms of GALNT3 and vitamin D receptor (VDR) with osteoporosis in postmenopausal women was investigated. A total of 1,212 cases of postmenopausal patients diagnosed with osteoporosis (observation group) and 404 cases of postmenopausal women without osteoporosis (control group) were selected. Dual-energy X-ray absorptiometry was used for measurement of bone mineral density (BMD) of lumbar vertebrae L2-4, proximal femoral neck and total hip, and classifications were made. TaqMan genotyping technology was employed to examine tag single-nucleotide polymorphism (tagSNP) of GALNT3 and VDR and the correlation of tagSNP with bone turnover markers (BTMs) and serum calcium and phosphorous levels was analyzed...
October 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27695990/functional-and-genetic-predisposition-to-rhinovirus-lower-respiratory-tract-infections-in-prematurely-born-infants
#16
Simon B Drysdale, Mireia Alcazar, Theresa Wilson, Melvyn Smith, Mark Zuckerman, Hennie M Hodemaekers, Riny Janssen, Louis Bont, Sebastian L Johnston, Anne Greenough
: Term born infants are predisposed to human rhinovirus (HRV) lower respiratory tract infections (LRTI) by reduced neonatal lung function and genetic susceptibility. Our aim was to investigate whether prematurely born infants were similarly predisposed to HRV LRTIs or any other viral LRTIs. Infants born less than 36 weeks of gestational age were recruited. Prior to neonatal/maternity unit discharge, lung function (functional residual capacity by helium gas dilution and multiple breath washout, lung clearance index and compliance (Crs), and resistance (Rrs) of the respiratory system) was assessed and DNA samples assessed for eight single nucleotide polymorphisms (SNPs) in seven genes: ADAM33, IL10, MMP16 NFκB1A,SFTPC, VDR, and NOS2A...
October 1, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27669215/vitamin-d-related-gene-polymorphisms-plasma-25-hydroxy-vitamin-d-cigarette-smoke-and-non-small-cell-lung-cancer-nsclc-risk
#17
Xiayu Wu, Jiaoni Cheng, Kaiyun Yang
Epidemiological studies regarding the relationship between vitamin D, genetic polymorphisms in the vitamin D metabolism, cigarette smoke and non-small cell lung cancer (NSCLC) risk have not been investigated comprehensively. To search for additional evidence, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique and radioimmunoassay method were utilized to evaluate 5 single-nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR), 6 SNPs in 24-hydroxylase (CYP24A1), 2 SNPs in 1α-hydroxylase (CYP27B1) and 2 SNPs in vitamin D-binding protein (group-specific component, GC) and plasma vitamin D levels in 426 NSCLC cases and 445 controls from China...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27652346/mendelian-randomization-shows-a-causal-effect-of-low-vitamin-d-on-multiple-sclerosis-risk
#18
Brooke Rhead, Maria Bäärnhielm, Milena Gianfrancesco, Amanda Mok, Xiaorong Shao, Hong Quach, Ling Shen, Catherine Schaefer, Jenny Link, Alexandra Gyllenberg, Anna Karin Hedström, Tomas Olsson, Jan Hillert, Ingrid Kockum, M Maria Glymour, Lars Alfredsson, Lisa F Barcellos
OBJECTIVE: We sought to estimate the causal effect of low serum 25(OH)D on multiple sclerosis (MS) susceptibility that is not confounded by environmental or lifestyle factors or subject to reverse causality. METHODS: We conducted mendelian randomization (MR) analyses using an instrumental variable (IV) comprising 3 single nucleotide polymorphisms found to be associated with serum 25(OH)D levels at genome-wide significance. We analyzed the effect of the IV on MS risk and both age at onset and disease severity in 2 separate populations using logistic regression models that controlled for sex, year of birth, smoking, education, genetic ancestry, body mass index at age 18-20 years or in 20s, a weighted genetic risk score for 110 known MS-associated variants, and the presence of one or more HLA-DRB1*15:01 alleles...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27636996/genetic-variants-in-vitamin-d-signaling-pathways-and-risk-of-gestational-diabetes-mellitus
#19
Aiwu Shi, Juan Wen, Guangquan Liu, Heng Liu, Ziyi Fu, Jing Zhou, Yao Zhu, Yaoqiu Liu, Xirong Guo, Jianguo Xu
Vitamin D (VD) deficiency during pregnancy has been repeatedly linked to an increased gestational diabetes mellitus (GDM) risk. We sought to determine the influences of genetic variants in vitamin D signaling pathways on the risk of GDM. In this study, we genotyped 15 single nucleotide polymorphisms (SNPs) within 8 representative genes (CYP27A1, CYP27B1, CYP24A1, VDR, RXRA, RXRB, RXRG and GC) of the vitamin D signaling pathways in a case-control study with 964 GDM cases and 1,021 controls using the Sequenom MassARRAY iPLEX platform...
September 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27625044/genetically-low-vitamin-d-levels-bone-mineral-density-and-bone-metabolism-markers-a-mendelian-randomisation-study
#20
Shan-Shan Li, Li-Hong Gao, Xiao-Ya Zhang, Jin-We He, Wen-Zhen Fu, Yu-Juan Liu, Yun-Qiu Hu, Zhen-Lin Zhang
Low serum 25-hydroxyvitamin D (25OHD) is associated with osteoporosis and osteoporotic fracture, but it remains uncertain whether these associations are causal. We conducted a Mendelian randomization (MR) study of 1,824 postmenopausal Chinese women to examine whether the detected associations between serum 25OHD and bone mineral density (BMD) and bone metabolism markers were causal. In observational analyses, total serum 25OHD was positively associated with BMD at lumbar spine (P = 0.003), femoral neck (P = 0...
2016: Scientific Reports
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