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https://www.readbyqxmd.com/read/29792847/the-polymorphisms-of-atoh-7-et-1-and-ace-in-non-arteritic-anterior-ischemic-optic-neuropathy
#1
Ting Chen, Jin Ma, Guangliang Shan, Yong Zhong
Non-arteritic anterior ischemic optic neuropathy (NAION) is a common cause of acute optic neuropathy in the elderly. The role of the genetic polymorphisms of Atonal Homolog 7 (ATOH7), Endothelin-1 (ET-1) and Angiotensin Converting Enzyme (ACE) in NAION and the combined effects of the gene-gene and gene-medical comorbidities on NAION were not clear. We conducted a perspective, case-control study. 71 NAION patients and 142 age and sex-matched healthy controls were enrolled. Single nucleotide polymorphisms of ATOH7 (rs1900004), ET-1 (rs5370) and ACE (rs1799752) were identified by polymerase chain reaction (PCR) method and all PCR products were screened with Sanger sequencing...
May 21, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29791912/differential-expression-of-micrornas-in-breast-cancers-from-four-different-ethnicities
#2
Jennifer Pollard, Phil A Burns, Tom A Hughes, Colan Ho-Yen, J Louise Jones, Geetashree Mukherjee, Ganiat O Omoniyi-Esan, Nicholas Akinwale Titloye, Valerie Speirs, Abeer M Shaaban
INTRODUCTION: Breast cancer outcomes vary across different ethnic groups. MicroRNAs (miRs) are small non-coding RNA molecules that regulate gene expression across a range of pathologies, including breast cancer. The aim of this study was to evaluate the presence and expression of miRs in breast cancer samples from different ethnic groups. MATERIALS AND METHODS: Breast cancer tissue from 4 ethnic groups, i.e., British Caucasian, British Black, Nigerian, and Indian, were identified and matched for patients' age, tumour grade/type, and 10 × 10 µm sections taken...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29791776/polymorphism-in-disease-related-apolipoprotein-c-ii-amyloid-fibrils-a-structural-model-for-rod-like-fibrils
#3
Courtney O Zlatic, Yu Mao, Nevena Todorova, Yee-Foong Mok, Geoffrey J Howlett, Irene Yarovsky, Paul R Gooley, Michael D W Griffin
Human apolipoprotein (apo) C-II is one of several plasma apolipoproteins that form amyloid deposits in vivo and is an independent risk factor for cardiovascular disease. Lipid-free apoC-II readily self-assembles into twisted-ribbon amyloid fibrils but forms straight, rod-like amyloid fibrils in the presence of low concentrations of micellar phospholipids. Charge mutations exerted significantly different effects on rod-like fibril formation compared to their effects on twisted-ribbon fibril formation. For instance, the double mutant K30D, D69K apoC-II readily formed twisted-ribbon fibrils, while the rate of rod-like fibril formation in the presence of micellar phospholipid was negligible...
May 23, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29791065/risk-factors-of-valproic-acid-induced-hyperammonaemia-in-chinese-paediatric-patients-with-epilepsy
#4
Xu Zhu, Xinlin Li, Ti Zhang, Limei Zhao
The present study was aimed at identifying genetic and non-genetic risk factors for valproic acid (VPA)-induced hyperammonaemia in Chinese paediatric patients with epilepsy. A total of 210 epileptic patients, treated with VPA as monotherapy, were enrolled and classified into hyperammonaemia and control groups according to their blood ammonia level (cut-off value 50 μmol/L). Serum concentrations of VPA and its major metabolites were simultaneously determined by ultra-high performance liquid chromatography-tandem mass spectrometry...
May 23, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29791011/a-pharmacokinetic-and-pharmacogenetic-analysis-of-osteosarcoma-patients-treated-with-high-dose-methotrexate-data-from-the-os2006-sarcoma-09-trial
#5
Gabrielle Lui, Jean-Marc Treluyer, Brice Fresneau, Sophie Piperno-Neumann, Nathalie Gaspar, Nadège Corradini, Jean-Claude Gentet, Perrine Marec Berard, Valérie Laurence, Pascale Schneider, Natacha Entz-Werle, Hélène Pacquement, Frédéric Millot, Sophie Taque, Claire Freycon, Cyril Lervat, Marie Cécile Le Deley, Céline Mahier Ait Oukhatar, Laurence Brugieres, Gwénaël Le Teuff, Naïm Bouazza
Growing evidence suggests that polymorphisms of genes coding for transporters or enzymes may partially explain the large between subject variability reported for methotrexate (MTX) pharmacokinetics (PK). This prospective study aimed to develop a population PK-pharmacogenetic model to evaluate the part of between-subject variability due to single-nucleotide polymorphisms (SNPs) in transporters and enzyme genes implicated in MTX distribution and elimination. MTX concentrations and 54 SNPs (located in ABCB1, ABCC1, ABCC2, ABCC3, ABCC4, ABCG2, SLC19A1, SLCO1B1, and UGT1A1 genes) were analyzed in patients treated with MTX included in the OS2006/sarcoma-09 trial (a multicenter, open-label, phase III trial, ClinicalTrials...
May 23, 2018: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29790822/the-serotonin-transporter-polymorphism-5-httlpr-and-cortisol-stress-responsiveness-preliminary-evidence-for-a-modulating-role-for-sleep-quality
#6
Jens H van Dalfsen, C Rob Markus
The short (S) allele of a functional polymorphism (5-HTTLPR) within the promoter region of the serotonin transporter gene (SLC6A4) is found to predispose the risk for stress-related affective disorders relative to the long (L) allele. Evidence suggests that elevated stress reactivity of the hypothalamic-pituitary-adrenal (HPA) axis might underlie this association although there is little understanding about the origin of inconsistent findings. Since inadequate sleep is commonly known to promote HPA stress reactivity, it might well play an important modulating role...
May 23, 2018: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/29789205/genetic-variants-related-to-urate-and-risk-of-parkinson-s-disease
#7
Katherine C Hughes, Xiang Gao, Eilis J O'Reilly, Iris Y Kim, Molin Wang, Marc G Weisskopf, Michael A Schwarzschild, Alberto Ascherio
INTRODUCTION: Higher urate concentrations have been associated with a lower risk of developing Parkinson's disease (PD) and with slower rates of clinical decline in PD patients. Whether these associations reflect a neuroprotective effect of urate is unclear. Our objective was to assess whether genetic variants that modify circulating urate levels are also associated with altered PD risk. METHODS: Participants were from three large ongoing cohort studies: the Nurses' Health Study (NHS), the Health Professionals Follow-up Study (HPFS), and the Cancer Prevention Study II Nutrition Cohort (CPS-IIN)...
May 1, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29788905/genomic-prediction-of-the-polled-and-horned-phenotypes-in-merino-sheep
#8
Naomi Duijvesteijn, Sunduimijid Bolormaa, Hans D Daetwyler, Julius H J van der Werf
BACKGROUND: In horned sheep breeds, breeding for polledness has been of interest for decades. The objective of this study was to improve prediction of the horned and polled phenotypes using horn scores classified as polled, scurs, knobs or horns. Derived phenotypes polled/non-polled (P/NP) and horned/non-horned (H/NH) were used to test four different strategies for prediction in 4001 purebred Merino sheep. These strategies include the use of single 'single nucleotide polymorphism' (SNP) genotypes, multiple-SNP haplotypes, genome-wide and chromosome-wide genomic best linear unbiased prediction and information from imputed sequence variants from the region including the RXFP2 gene...
May 22, 2018: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29788244/nonsynonymous-polymorphism-in-guanine-monophosphate-synthetase-is-a-risk-factor-for-unfavorable-thiopurine-metabolite-ratios-in-patients-with-inflammatory-bowel-disease
#9
Rebecca L Roberts, Mary C Wallace, Margien L Seinen, Adriaan A van Bodegraven, Krupa Krishnaprasad, Gregory T Jones, Andre M van Rij, Angela Baird, Ian C Lawrance, Ruth Prosser, Peter Bampton, Rachel Grafton, Lisa A Simms, Corrie Studd, Sally J Bell, Martin A Kennedy, Jacob Halliwell, Richard B Gearry, Graham Radford-Smith, Jane M Andrews, Patrick C McHugh, Murray L Barclay
Background : Up to 20% of patients with inflammatory bowel disease (IBD) who are refractory to thiopurine therapy preferentially produce 6-methylmercaptopurine (6-MMP) at the expense of 6-thioguanine nucleotides (6-TGN), resulting in a high 6-MMP:6-TGN ratio (>20). The objective of this study was to evaluate whether genetic variability in guanine monophosphate synthetase (GMPS) contributes to preferential 6-MMP metabolizer phenotype. Methods: Exome sequencing was performed in a cohort of IBD patients with 6-MMP:6-TGN ratios of >100 to identify nonsynonymous single nucleotide polymorphisms (nsSNPs)...
May 16, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29787964/comparison-of-macro-and-micro-raman-measurement-for-reliable-quantitative-analysis-of-pharmaceutical-polymorphs
#10
Eduardo M Paiva, Vitor H da Silva, Ronei J Poppi, Claudete F Pereira, Jarbas J R Rohwedder
This work reports on the use of micro- and macro-Raman measurements for quantification of mebendazole (MBZ) polymorphs A, B, and C in mixtures. Three Raman spectrophotometers were studied with a laser spot size of 3, 80 and 100 μm and spectral resolutions of 3.9, 9 and 4 cm-1 , respectively. The samples studied were ternary mixtures varying the MBZ polymorphs A and C from 0 to 100% and polymorph B from 0 to 30%. Partial Least Squares (PLS) regression models were developed using the pre-processing spectra (2nd derivative) of the ternary mixtures...
May 12, 2018: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29787601/impact-of-vascular-endothelial-growth-factor-vegf-and-vascular-endothelial-growth-factor-receptor-vegfr-single-nucleotide-polymorphisms-on-outcome-in-gastroenteropancreatic-neuroendocrine-neoplasms
#11
Rossana Berardi, Mariangela Torniai, Stefano Partelli, Corrado Rubini, Silvia Pagliaretta, Agnese Savini, Vanessa Polenta, Matteo Santoni, Riccardo Giampieri, Sofia Onorati, Federica Barucca, Alberto Murrone, Francesca Bianchi, Massimo Falconi
Angiogenesis represents a key event in cancer development, leading to local invasion e metastatization, and might be considered a basic feature in gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) with a high expression of angiogenic molecules. We aimed to analyze the prognostic and predictive role of angiogenic factors in GEP-NENs through the analysis of single nucleotide polymorphisms (SNPs) of VEGF-A, VEGFR2 and VEGFR3. The genomic DNA of 58 consecutive patients with GEP-NENs treated at our Institution was extracted from peripheral blood...
2018: PloS One
https://www.readbyqxmd.com/read/29785925/comparison-of-two-genotyping-methods-for-distinguishing-recrudescence-from-reinfection-in-antimalarial-drug-efficacy-effectiveness-trials
#12
Joseph R M Fulakeza, Rachel L Banda, Trancizeo R Lipenga, Dianne J Terlouw, Standwell C Nkhoma, Eva Maria Hodel
Genotyping of allelic variants of Plasmodium falciparum merozoite surface proteins 1 and 2 ( msp-1 and msp-2 ), and the glutamate-rich protein is the gold standard for distinguishing reinfections from recrudescences in antimalarial drug trials. We compared performance of the recently developed 24-single-nucleotide polymorphism (SNP) Barcoding Assay against msp-1 and msp-2 genotyping in a cluster-randomized effectiveness trial of artemether-lumefantrine and dihydroartemisinin-piperaquine in Malawi. Rates of recrudescence and reinfection estimated by the two methods did not differ significantly (Fisher's exact test; P = 0...
May 21, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#13
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784544/classifying-alzheimer-s-disease-with-brain-imaging-and-genetic-data-using-a-neural-network-framework
#14
Kaida Ning, Bo Chen, Fengzhu Sun, Zachary Hobel, Lu Zhao, Will Matloff, Arthur W Toga
A long-standing question is how to best use brain morphometric and genetic data to distinguish Alzheimer's disease (AD) patients from cognitively normal (CN) subjects and to predict those who will progress from mild cognitive impairment (MCI) to AD. Here, we use a neural network (NN) framework on both magnetic resonance imaging-derived quantitative structural brain measures and genetic data to address this question. We tested the effectiveness of NN models in classifying and predicting AD. We further performed a novel analysis of the NN model to gain insight into the most predictive imaging and genetics features and to identify possible interactions between features that affect AD risk...
April 24, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29783161/candidate-gene-analysis-in-the-s%C3%A3-o-paulo-epidemiologic-sleep-study-episono-shows-an-association-of-variant-in-pde4d-and-sleepiness
#15
Victoria M Pak, Diego R Mazzotti, Brendan T Keenan, Camila Hirotsu, Philip Gehrman, Lia Bittencourt, Allan I Pack, Sergio Tufik
INTRODUCTION: Sleepiness and cardiovascular disease share common molecular pathways; thus, genetic risk factors for sleepiness may also predict cardiovascular disease risk. This study explored the associations between subjective sleepiness and single-nucleotide polymorphisms (SNPs) in candidate genes within oxidative stress, inflammatory, and neuronal pathways, which may contribute to sleepiness and downstream cardiovascular disease risk: Cytochrome B-245, Alpha Polypeptide (CYBA), Cytochrome B-245, Beta Polypeptide (CYBB), Neutrophil Cytosolic Factor (NCF2), Tumor Necrosis Factor-Alpha (TNFA), and Phosphodiesterase 4D (PDE4D)...
January 12, 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29779831/interleukin-6-significantly-improves-predictive-value-of-systemic-inflammatory-response-syndrome-for-predicting-severe-acute-pancreatitis
#16
Saransh Jain, Shallu Midha, Soumya Jagannath Mahapatra, Swatantra Gupta, Manish Kumar Sharma, Baibaswata Nayak, Tony George Jacob, Shalimar, Pramod Kumar Garg
BACKGROUND: Predicting severe acute pancreatitis (AP) is important for triage, prognosis, and designing therapeutic trials. Persistent systemic inflammatory response syndrome (SIRS) predicts severe AP but its diagnostic accuracy is suboptimal. Our objective was to study if cytokine levels could improve the predictive value of clinical variables for the development of severe AP. METHODS: Consecutive patients with AP were included in a prospective cohort study at a tertiary care center...
May 14, 2018: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/29779309/-the-survival-prediction-model-of-advanced-gallbladder-cancer-based-on-bayesian-network-a-multi-institutional-study
#17
Z H Tang, Z M Geng, C Chen, S B Si, Z Q Cai, T Q Song, P Gong, L Jiang, Y H Qiu, Y He, W L Zhai, S P Li, Y C Zhang, Y Yang
Objective: To investigate the clinical value of Bayesian network in predicting survival of patients with advanced gallbladder cancer(GBC)who underwent curative intent surgery. Methods: The clinical data of patients with advanced GBC who underwent curative intent surgery in 9 institutions from January 2010 to December 2015 were analyzed retrospectively.A median survival time model based on a tree augmented naïve Bayes algorithm was established by Bayesia Lab software.The survival time, number of metastatic lymph nodes(NMLN), T stage, pathological grade, margin, jaundice, liver invasion, age, sex and tumor morphology were included in this model...
May 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29778803/age-affects-reinforcement-learning-through-dopamine-based-learning-imbalance-and-high-decision-noise-not-through-parkinsonian-mechanisms
#18
Ravi B Sojitra, Itamar Lerner, Jessica R Petok, Mark A Gluck
Probabilistic reinforcement learning declines in healthy cognitive aging. While some findings suggest impairments are especially conspicuous in learning from rewards, resembling deficits in Parkinson's disease, others also show impairments in learning from punishments. To reconcile these findings, we tested 252 adults from 3 age groups on a probabilistic reinforcement learning task, analyzed trial-by-trial performance with a Q-reinforcement learning model, and correlated both fitted model parameters and behavior to polymorphisms in dopamine-related genes...
April 19, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29778033/weight-and-the-vitamin-k-expoxide-reductase-1-genotype-primarily-contribute-to-the-warfarin-dosing-in-pediatric-patients-with-kawasaki-disease
#19
Zhouping Wang, Li Zhang, Ping Huang, Xiaoqiong Gu, Xiaofei Xie, Yanfei Wang, Wei Li, Qiyi Zeng
INTRODUCTION: Warfarin therapy is recommended in children with giant coronary artery aneurysms (GCAAs) after Kawasaki disease (KD). Large individual variability makes it difficult to predict the warfarin dose. Polymorphisms in the vitamin K expoxide reductase 1 (VKORC1) and cytochrome P4502C9 (CYP2C9) genes have been reported to influence the warfarin dose. We investigated the effects of the VKORC1 and CYP2C9 genotypes on the warfarin dose in pediatric patients with giant CAAs after KD...
May 8, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29777329/population-pharmacokinetics-of-theophylline-in-adult-chinese-patients-with-asthma-and-chronic-obstructive-pulmonary-disease
#20
Yanjiao Ma, Ling Xue, Xin Chen, Yingbo Kang, Yong Wang, Liqing Wang
Background Theophylline has a narrow therapeutic range and large interindividual variability in blood levels, so a thorough understanding of its pharmacokinetic characteristics is essential. Population pharmacokinetic (PPK) approaches could achieve it and many PPK studies of theophylline have been reported in infants. However, none was conducted in Chinese adults and none has explored the effect of CYP1A2 genotypes on the PPK characteristics of theophylline in adults. Objective To evaluate the PPK characteristics of theophylline and to assess the possible influence of covariates, including CYP1A2 genotypes, on theophylline clearance in Chinese adult patients...
May 18, 2018: International Journal of Clinical Pharmacy
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