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Single nucleotide polymorphism and vitamins

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https://www.readbyqxmd.com/read/29165650/evaluation-of-1-25-dihydroxyvitamin-d3-pathway-in-patients-with-chronic-urticaria
#1
Rasoul Nasiri-Kalmarzi, Mohammad Abdi, Javad Hosseini, Erfan Babaei, Aram Mokarizadeh, Zakaria Vahabzadeh
BACKGROUND: Previous studies showed the role of vitamin D (Vit D) on the progression of chronic urticaria. To the best of our knowledge, there are no other results regarding the contribution of single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) and vitamin D binding protein (VDBP) genes in Chronic Urticaria (CU). AIM: In the present study, we investigated the Vit pathway and the association between VDR and VDBP gene polymorphisms and CU risk in Iranian population...
November 20, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29164277/high-prevalence-of-dengue-antibodies-and-the-arginine-variant-of-the-fc%C3%AE-riia-polymorphism-in-asymptomatic-individuals-in-a-population-of-minas-gerais-state-southeast-brazil
#2
Anna Carolina Toledo da Cunha Pereira, Tatiane Ribeiro de Siqueira, Andressa Anunciação de Oliveira Prado, Camila Almeida Veiga da Silva, Thaís de Fátima Silva Moraes, Alan Alex Aleixo, José Carlos de Magalhaes, Gabriel Augusto Pires de Souza, Betânia Paiva Drumond, Gustavo Portela Ferreira, Breno de Mello Silva, Cintia Lopes de Brito Magalhães, Luciana Lara Santos, Jaqueline Maria Siqueira Ferreira, Luiz Cosme Cotta Malaquias, Luiz Felipe Leomil Coelho
Dengue is the most prevalent arthropod-borne viral illness in humans worldwide. Single-nucleotide polymorphisms (SNPs) in genes involved in the immune response, such as dendritic cell-specific intercellular adhesion molecule-3-grabbing non-integrin (DC-SIGN), IgG Fc receptor II-A (FcγRIIa), vitamin D receptor (VDR), and tumor necrosis factor alpha (TNF-α), were previously reported to be associated with susceptibility to dengue disease in different human populations. Therefore, due to the relevant association of host immune and genetic status with disease susceptibility/severity of dengue, this work aims to verify the frequency of anti-dengue virus antibodies and some dengue-associated risk SNPs in a population in Minas Gerais State, Southeast Brazil...
November 21, 2017: Immunogenetics
https://www.readbyqxmd.com/read/29160302/role-of-cyp24a1-vdr-and-gc-gene-polymorphisms-on-deferasirox-pharmacokinetics-and-clinical-outcomes
#3
S Allegra, J Cusato, S De Francia, A Arduino, F Longo, E Pirro, D Massano, A De Nicolò, A Piga, A D'Avolio
β-Thalassemia patients develop deficiency in vitamin D absorption and liver hydroxylation, resulting in extremely low calcitriol levels. We explored the role of single-nucleotide polymorphisms (SNPs) involved in vitamin D metabolism, transport and activity on deferasirox pharmacokinetics and outcomes (effectiveness trough levels (Ctrough) and the area under the curve (AUC) cutoffs of 20 μg ml(-1) and 360 μg ml(-1) h(-1), respectively; nonresponse AUC limit of 250 μg ml(-1) h(-1)). Ninety-nine β-thalassemic patients were enrolled...
November 21, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29128634/vitamin-d-receptor-vdr-polymorphisms-are-associated-to-spontaneous-preterm-birth-and-maternal-aspects
#4
N R Javorski, C A D Lima, L V C Silva, S Crovella, J de Azêvedo Silva
Preterm birth (PTB) is featured by less than 37weeks of gestational age or fewer than 259days since the first day from the last menstrual period. Complications of PTB are the major cause of neonatal deaths, several factors are linked to PTB increased risk including immunological and genetics. Vitamin D plays an important role in immune response modulation and its action occurs through the vitamin D receptor (VDR), which recently has been described as overexpressed in human placenta during the pregnancy. Herein we assessed two single nucleotide polymorphisms (SNPs) FokI (rs2228570 A>G) and Cdx-2 (rs11568820 T>C), within VDR, using TaqMan fluorogenic probes, and differential susceptibility to SPTB...
November 8, 2017: Gene
https://www.readbyqxmd.com/read/29128211/genome-wide-association-studies-to-identify-quantitative-trait-loci-affecting-milk-production-traits-in-water-buffalo
#5
J J Liu, A X Liang, G Campanile, G Plastow, C Zhang, Z Wang, A Salzano, B Gasparrini, M Cassandro, L G Yang
Water buffalo is the second largest resource of milk supply around the world, and it is well known for its distinctive milk quality in terms of fat, protein, lactose, vitamin, and mineral contents. Understanding the genetic architecture of milk production traits is important for future improvement by the buffalo breeding industry. The advance of genome-wide association studies (GWAS) provides an opportunity to identify potential genetic variants affecting important economical traits. In the present study, GWAS was performed for 489 buffaloes with 1,424 lactation records using the 90K Affymetrix Buffalo SNP Array (Affymetrix/Thermo Fisher Scientific, Santa Clara, CA)...
November 8, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29128193/vitamin-d-levels-vitamin-d-receptor-polymorphisms-and-inflammatory-cytokines-in-aromatase-inhibitor-induced-arthralgias-an-analysis-of-cctg-ma-27
#6
Polly Niravath, Bingshu Chen, Judy-Anne W Chapman, Sandeep K Agarwal, Robert L Welschhans, Tim Bongartz, Krishna R Kalari, Lois E Shepherd, John Bartlett, Kathleen Pritchard, Karen Gelmon, Susan G Hilsenbeck, Mothaffar F Rimawi, C Kent Osborne, Paul E Goss, James N Ingle
BACKGROUND: Approximately half of women taking aromatase inhibitor (AI) therapy develop AI-induced arthralgia (AIA), and many might discontinue AI therapy because of the pain. Using plasma samples from the MA.27 study, we assessed several factors potentially associated with AIA. PATIENTS AND METHODS: MA.27 is a phase III adjuvant trial comparing 2 AIs, exemestane versus anastrozole. Within an 893-participant nested case-control AIA genome-wide association study, we nested a 72 AIA case-144 control assessment of vitamin D plasma concentrations, corrected for seasonal and geographic variation...
October 16, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29124814/validation-of-an-updated-associative-transcriptomics-platform-for-the-polyploid-crop-species-brassica-napus-by-dissection-of-the-genetic-architecture-of-erucic-acid-and-tocopherol-isoform-variation-in-seeds
#7
Lenka Havlickova, Zhesi He, Lihong Wang, Swen Langer, Andrea L Harper, Harjeevan Kaur, Martin R Broadley, Vasilis Gegas, Ian Bancroft
An updated platform was developed to underpin association genetics studies in the polyploid crop species Brassica napus. Based on 1.92 x 10(12) bases of leaf mRNAseq data, functional genotypes, comprising 355,536 single nucleotide polymorphism markers and transcript abundance were scored across a 383-accession genetic diversity panel using a transcriptome reference comprising 116,098 ordered CDS gene models. The use of the platform for Associative Transcriptomics was first tested by analysing the genetic architecture of variation for seed erucic acid content, as high erucic rapeseed oil is highly valued for a variety of applications in industry...
November 10, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29122496/determinants-of-low-bone-mineral-density-in-children-with-epilepsy
#8
Choong Yi Fong, Ann Nie Kong, Mazidah Noordin, Bee Koon Poh, Lai Choo Ong, Ching Ching Ng
INTRODUCTION: Children with epilepsy on long-term antiepileptic drugs (AEDs) are at risk of low bone mineral density (BMD). The aims of our study were to evaluate the prevalence and determinants of low BMD among Malaysian children with epilepsy. METHOD: Cross-sectional study of ambulant children with epilepsy on long-term AEDs for >1 year seen in a tertiary hospital in Malaysia from 2014 to 2015. Detailed assessment of anthropometric measurements; environmental lifestyle risk factors; serum vitamin D, calcium and parathyroid hormone levels; genotyping of single nucleotide polymorphisms of genes in vitamin D and calcium metabolism; and lumbar spine BMD were obtained...
October 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29108239/interactions-between-vitamin-d-receptor-vdr-gene-and-interleukin-6-gene-and-environment-factors-on-coronary-heart-disease-risk-in-a-chinese-han-population
#9
Ma Jun, Guan Xue-Qiang, Li Jia, Xue Yang-Jing, Zheng Cheng, Jin Ge
Aims: To investigate the association of several single nucleotide polymorphisms (SNPs) within Interleukin-6 (IL- 6) and vitamin D receptor (VDR) gene, and additional gene- gene and gene- smoking interaction with coronary heart disease (CHD) risk in a Chinese population. Methods: Hardy-Weinberg equilibrium (HWE) examination was used by SNPstats (http://bioinfo.iconcologia.net/SNPstats). Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs and smoking...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29100280/impact-of-phosphoinositide-3-kinase-and-vitamin-d3-nuclear-receptor-single-nucleotide-polymorphisms-on-the-outcome-of-malignant-melanoma-patients
#10
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...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29099735/effect-of-pharmacogenetic-markers-of-vitamin-d-pathway-on-deferasirox-pharmacokinetics-in-children
#11
Sarah Allegra, Jessica Cusato, Silvia De Francia, Filomena Longo, Elisa Pirro, Davide Massano, Antonio Piga, Antonio D'Avolio
OBJECTIVES: Patients with β-thalassemia major have extremely low vitamin D levels, owing to reduced intestinal absorption, subicteric tint, and/or iron-induced higher pigmentation. We investigated whether some polymorphisms within the VDR, CYP24A1, CYP27B1, and GC genes could play a role in deferasirox pharmacokinetics in a cohort of pediatric patients. PATIENTS AND METHODS: Eighteen children with β-thalassemia were enrolled. Drug plasma concentrations at the end of dosing interval (Ctrough) and after 0, 2, 4, 6, and 24 h of drug administration were measured by a HPLC-UV method...
November 2, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29089348/circulating-vitamin-d-concentration-and-risk-of-seven-cancers-mendelian-randomisation-study
#12
Vasiliki I Dimitrakopoulou, Konstantinos K Tsilidis, Philip C Haycock, Niki L Dimou, Kawthar Al-Dabhani, Richard M Martin, Sarah J Lewis, Marc J Gunter, Alison Mondul, Irene M Shui, Evropi Theodoratou, Katharina Nimptsch, Sara Lindström, Demetrius Albanes, Tilman Kühn, Timothy J Key, Ruth C Travis, Karani Santhanakrishnan Vimaleswaran, Peter Kraft, Brandon L Pierce, Joellen M Schildkraut
Objective To determine if circulating concentrations of vitamin D are causally associated with risk of cancer.Design Mendelian randomisation study.Setting Large genetic epidemiology networks (the Genetic Associations and Mechanisms in Oncology (GAME-ON), the Genetic and Epidemiology of Colorectal Cancer Consortium (GECCO), and the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortiums, and the MR-Base platform).Participants 70 563 cases of cancer (22 898 prostate cancer, 15 748 breast cancer, 12 537 lung cancer, 11 488 colorectal cancer, 4369 ovarian cancer, 1896 pancreatic cancer, and 1627 neuroblastoma) and 84 418 controls...
October 31, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29072967/association-of-vdr-gene-polymorphisms-with-risk-of-relapsing-remitting-multiple-sclerosis-in-an-iranian-kurdish-population
#13
Rasoul Abdollahzadeh, Parisa Moradi Pordanjani, Farideh Rahmani, Fatemeh Mashayekhi, Asaad Azarnezhad, Yaser Mansoori
PURPOSE: The purpose of this study was to evaluate the association of VDR Apa-I, Bsm-I, Fok-I, Taq-I single nucleotide polymorphisms (SNPs) with multiple sclerosis (MS) risk in an Iranian Kurdish population. MATERIALS AND METHODS: A population including of 118 patients and 124 healthy matched controls were recruited to the study. Genotyping of the SNPs was accomplished using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The frequency of allele T of Fok-I (P = 0...
November 16, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29066872/association-of-vitamin-d-receptor-gene-polymorphisms-with-diabetic-dyslipidemia-in-the-elderly-male-population-in-north-china
#14
Zheng Xia, Yazhuo Hu, Zhitao Han, Ya Gao, Jie Bai, Yao He, Hua Zhao, Honghong Zhang
BACKGROUND: The prevalence of dyslipidemia is rising alarmingly in elderly Han Chinese male patients with type 2 diabetes mellitus (T2DM). The genetic factors that contribute to the development of diabetic dyslipidemia remain incompletely identified. This study was conducted to assess the association between vitamin D receptor (VDR) polymorphisms and development of dyslipidemia in the Han elderly male population with T2DM in North China. METHODS: A total of 242 T2DM patients with dyslipidemia (DH group, n=108) or without dyslipidemia (DO group, n=134) and 100 controls were genotyped for ApaI, TaqI and FokI single nucleotide polymorphisms (SNPs) of the VDR gene using polymerase chain reaction-restriction fragment length polymorphism and sequencing...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29054760/polymorphisms-of-vitamin-k-related-genes-ephx1-and-vkorc1l1-and-stable-warfarin-doses
#15
Jee-Eun Chung, Kyung Eun Lee, Byung Chul Chang, Hye Sun Gwak
The aim of this study was to investigate the possible effects of EPHX1 and VKORC1L1 polymorphisms on variability of responses to warfarin. Sixteen single nucleotide polymorphisms (SNPs) in 201 patients with stable warfarin doses were analyzed including genes of VKORC1, CYP2C9, CYP4F2, GGCX, EPHX1 and VKORC1L1. Univariate analysis was conducted for the association of genotypes with stable warfarin doses. Multiple linear regression analysis was used to investigate factors that independently affected the inter-individual variability of warfarin dose requirements...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29032145/genetic-association-analysis-of-vitamin-d-receptor-gene-polymorphisms-and-obesity-related-phenotypes
#16
Correa-Rodríguez María, Jose Antonio Carrillo-Ávila, Schmidt-RioValle Jacqueline, González-Jiménez Emilio, Vargas Sofia, Martin Javier, Rueda-Medina Blanca
Vitamin D has been established as a key factor in the development of obesity through the vitamin D receptor (VDR). The aim of this study was to investigate the contribution of the VDR gene to obesity-related phenotypes in a population of Caucasian young adults. The study population consisted of 701 healthy Spanish young adults (mean age 20.41±2.48). Three single-nucleotide polymorphisms (SNPs) of VDR (TaqI, BsmI and FokI) were selected as genetic markers. Body composition measurements including weight, body mass index (BMI), fat mass (FM), percentage of fat mass (PFM), fat-free mass (FFM) and visceral fat level (VFL) were analysed...
January 15, 2018: Gene
https://www.readbyqxmd.com/read/29022486/association-of-vitamin-d-receptor-gene-polymorphisms-with-breast-cancer-risk-in-an-egyptian-population
#17
Haidan M El-Shorbagy, Nada H Mahmoud, Salwa Sabet
This study aimed to explore whether genetic polymorphisms in vitamin D receptor are correlated to the breast cancer prevalence in an Egyptian population. Polymerase chain reaction-restriction fragment polymorphism was used to genotype three frequently analyzed vitamin D receptor gene single-nucleotide polymorphisms (rs1544410, rs7975232, and rs731236) and were identified by sequencing analysis. This is the first study that recorded a new single-nucleotide polymorphism in ApaI genotype within an Egyptian population and was registered with the accession number KY859868...
October 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28981944/-association-of-transcobalamine-ii-gene-polymorphisms-and-serum-homocysteine-vitamin-b12-and-folate-levels-with-ulcerative-colitis-among-chinese-patients
#18
Shuzi Zheng, Hao Wu, Fangpeng Ye, Xuanping Xia, Shenglong Xia, Xiuqing Lin, Xiaoli Wu, Lijia Jiang, Ran Ding, Yi Jiang
OBJECTIVE: To assess the association of transcobalamine II (TCN2) gene polymorphisms and serum levels of homocysteine (Hcy), vitamin B12 and folate with ulcerative colitis (UC) among Chinese patients. METHODS: For 397 UC patients and 574 controls, two single nucleotide polymorphisms of the TCN2 gene (rs1801198, rs9606756) were tested with an improved multiple ligase detection reaction method. Serum Hcy, vitamin B12 and folate were measured with an enzymatic cycling assay and an chemiluminescence immunoassay, respectively...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28976992/genetic-determinants-of-serum-25-hydroxyvitamin-d-concentration-during-pregnancy-and-type-1-diabetes-in-the-child
#19
Maija E Miettinen, Melissa C Smart, Leena Kinnunen, Valma Harjutsalo, Linnea Reinert-Hartwall, Irene Ylivinkka, Heljä-Marja Surcel, Christel Lamberg-Allardt, Graham A Hitman, Jaakko Tuomilehto
OBJECTIVE: The in utero environment plays an important role in shaping development and later life health of the fetus. It has been shown that maternal genetic factors in the metabolic pathway of vitamin D associate with type 1 diabetes in the child. In this study we analyzed the genetic determinants of serum 25-hydroxyvitamin D (25OHD) concentration during pregnancy in mothers whose children later developed type 1 diabetes and in control mothers. STUDY DESIGN: 474 mothers of type 1 diabetic children and 348 mothers of non-diabetic children were included in the study...
2017: PloS One
https://www.readbyqxmd.com/read/28976930/association-of-sun-exposure-skin-colour-and-body-mass-index-with-vitamin-d-status-in-individuals-who-are-morbidly-obese
#20
Clare F Dix, Judith D Bauer, Ian Martin, Sharon Rochester, Briony Duarte Romero, Johannes B Prins, Olivia R L Wright
Vitamin D deficiency is a common issue, particularly in obese populations, and is tested by assessing serum 25(OH)D concentrations. This study aimed to identify factors that contribute to the vitamin D status in fifty morbidly obese individuals recruited prior to bariatric surgery. Data collected included serum 25(OH)D concentrations, dietary and supplement intake of vitamin D, sun exposure measures, skin colour via spectrophotometry, and genotype analysis of several single nucleotide polymorphisms in the vitamin D metabolism pathway...
October 4, 2017: Nutrients
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