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https://www.readbyqxmd.com/read/29334686/fat-mass-and-obesity-related-gene-variants-rs9939609-and-rs7185735-are-associated-with-second-generation-antipsychotic-induced-weight-gain
#1
Charlotte Schröder, Fabian Czerwensky, Stefan Leucht, Werner Steimer
INTRODUCTION: Weight gain is a limiting and frequent adverse effect of second-generation antipsychotic therapy. Identifying genetic risk factors would significantly improve pharmacotherapy. METHODS: We focused on rs7185735 and rs9939609, 2 common single nucleotide polymorphisms of the fat mass and obesity-associated (FTO) gene reported to be associated with obesity. Three-hundred fifty Caucasian inpatients were included in a naturalistic study. RESULTS: After 4 weeks of treatment, we did not observe any significant association of polymorphisms with weight change in the whole study population (p>0...
January 15, 2018: Pharmacopsychiatry
https://www.readbyqxmd.com/read/29334682/body-mass-index-and-plasma-p-selectin-before-coronary-stenting-predict-high-residual-platelet-reactivity-at-6-months-on-dual-antiplatelet-therapy
#2
Elena Z Golukhova, Marina V Grigoryan, Mariya N Ryabinina, Naida I Bulaeva, Victor L Serebruany
BACKGROUND: High residual platelet reactivity (HRPR) during dual antiplatelet therapy (DAPT) may impact clinical outcomes following percutaneous coronary interventions (PCI). However, whether any biomarkers assessed before PCI at DAPT loading may predict delayed maintenance HRPR is not clear. OBJECTIVE: The aim of this study was to determine whether conventional clinical or laboratory indices at loading before stenting may predict HRPR at 6 months of maintenance DAPT...
January 16, 2018: Cardiology
https://www.readbyqxmd.com/read/29334169/impact-of-baseline-clinical-and-laboratory-features-on-the-risk-of-thrombosis-in-children-with-acute-lymphoblastic-leukemia-a-prospective-evaluation
#3
Uma H Athale, T Mizrahi, C Laverdière, T Nayiager, Y-L Delva, G Foster, L Thabane, M David, J-M Leclerc, A K C Chan
BACKGROUND: Children with acute lymphoblastic leukemia (ALL) have increased risk of thromboembolism (TE). However, the predictors of ALL-associated TE are as yet uncertain. OBJECTIVE: This exploratory, prospective cohort study evaluated the effects of clinical (age, gender, ALL risk group) and laboratory variables (hematological parameters, ABO blood group, inherited and acquired prothrombotic defects [PDs]) at diagnosis on the development of symptomatic TE (sTE) in children (aged 1 to ≤18) treated on the Dana-Farber Cancer Institute ALL 05-001 study...
January 15, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29333880/pharmacogenetic-analysis-of-opioid-dependence-treatment-dose-and-dropout-rate
#4
Richard C Crist, James Li, Glenn A Doyle, Alex Gilbert, Bryan M Dechairo, Wade H Berrettini
BACKGROUND: Currently, no pharmacogenetic tests for selecting an opioid-dependence pharmacotherapy have been approved by the US Food and Drug Administration. OBJECTIVES: Determine the effects of variants in 11 genes on dropout rate and dose in patients receiving methadone or buprenorphine/naloxone (ClinicalTrials.gov Identifier: NCT00315341). METHODS: Variants in six pharmacokinetic genes (CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4) and five pharmacodynamic genes (HTR2A, OPRM1, ADRA2A, COMT, SLC6A4) were genotyped in samples from a 24-week, randomized, open-label trial of methadone and buprenorphine/naloxone for the treatment of opioid dependence (n = 764; 68...
January 15, 2018: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/29333597/tp53-polymorphism-in-plasma-cell-myeloma
#5
Szymon Andrzej Zmorzynski, Iwona Korszen-Pilecka, Magdalena Wojcierowska-Litwin, Barbara Kwiatkowska-Drabik, Malgorzata Luterek, Sylwia Chocholska, Dorota Koczkodaj, Sylwia Popek, Malgorzata Michalak-Wojnowska, Grazyna Swiderska-Kolacz, Joanna Januszewska, Iwona Surowiec, Waldemar Tomczak, Marek Hus, Anna Dmoszynska, Marcin Pasiarski, Katarzyna Poniewierska-Jasak, Katarzyna Cieplinska, Olga Jankowska-Lecka, Agata Anna Filip
INTRODUCTION: Significant and accessible predictive factors for bortezomib treatment in plasma cell myeloma (PCM) are still lacking. TP53 codon 72 polymorphism (P72R) results in proline (P) or arginine (R) at 72 amino acid position, which causes synthesis of proteins with distinct functions. The aims of our study were to: 1) analyze whether this polymorphism is associated with an increased risk of PCM; 2) study whether the P72R polymorphism affects overall survival (OS) among PCM patients; 3) assess the possible association of the P72R polymorphism with sensitivity to bortezomib in cell cultures derived from PCM patients...
January 15, 2018: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/29333082/a-fcgr3a-polymorphism-predicts-anti-drug-antibodies-in-chronic-inflammatory-bowel-disease-patients-treated-with-anti-tnf
#6
Patricia Romero-Cara, Daniel Torres-Moreno, José Pedregosa, Juan Antonio Vílchez, María Sergia García-Simón, Guadalupe Ruiz-Merino, Senador Morán-Sanchez, Pablo Conesa-Zamora
BACKGROUND: The production of anti-drug antibodies (ADAs) against IgG monoclonal antibodies (mAbs) targeting tumour necrosis factor (TNF) is an important cause of loss of response to anti-TNF mAbs in patients with inflammatory bowel diseases (IBD) such as Crohn's disease (CD) and ulcerative colitis (UC). Since receptors for the Fc portion of IgG (FCGRs) are involved in the degradation of IgG complexes, we hypothesised that a polymorphism in FCGR3A (V158F; rs396991) gene could be involved in anti-TNF ADA generation and treatment resistance...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29332452/the-dnmt3b-579g-t-polymorphism-is-significantly-associated-with-the-risk-of-gastric-cancer-but-not-lung-cancer-in-chinese-population
#7
Bifeng Chen, Jingdong Wang, Xiuli Gu, Jingli Zhang, Jiankun Zhang, Xianhong Feng
The -149C>T and -579G>T, 2 single nucleotide polymorphisms in de novo methyltransferase 3B gene promoter, have been previously reported to potentially alter the promoter activity and to influence cancer risk. However, the results from previous studies remain conflicting rather than conclusive. In view of this, we conducted a case-control study and then a meta-analysis to examine the association between these 2 single-nucleotide polymorphisms with risk of lung and gastric cancer in Chinese population. The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism and confirmed by sequencing...
December 2017: Technology in Cancer Research & Treatment
https://www.readbyqxmd.com/read/29331485/impact-of-9p21-3-region-and-atherosclerosis-related-genes-variants-on-long-term-recurrent-hard-cardiac-events-after-a-myocardial-infarction
#8
German J Osmak, Boris V Titov, Natalia A Matveeva, Vitalina V Bashinskaya, Roman M Shakhnovich, Tatiana S Sukhinina, Nino G Kukava, Mikhail Ya Ruda, Olga O Favorova
Atherosclerotic coronary artery disease (CAD) and myocardial infarction (MI) as its most severe clinical complication remain the leading causes of mortality in the majority of countries. Despite the progress in the treatment of MI, quite often the patients, after the first-time MI, develop subsequently a variety of adverse cardiovascular events. In this retrospective study we evaluated the contribution of allelic variations in 9p21.3 locus and in 21 atherogenesis-related genes to the development of hard cardiac events in a cohort of patients of Russian ethnicity after the first acute MI during long-term follow-up (7-10 years)...
January 10, 2018: Gene
https://www.readbyqxmd.com/read/29330500/integration-of-gwas-pathway-and-network-analyses-reveals-novel-mechanistic-insights-into-the-synthesis-of-milk-proteins-in-dairy-cows
#9
Sara Pegolo, Núria Mach, Yuliaxis Ramayo-Caldas, Stefano Schiavon, Giovanni Bittante, Alessio Cecchinato
The quantities and proportions of protein fractions have notable effects on the nutritional and technological value of milk. Although much is known about the effects of genetic variants on milk proteins, the complex relationships among the set of genes and pathways regulating the different protein fractions synthesis and secretion into milk in dairy cows are still not completely understood. We conducted genome-wide association studies (GWAS) for milk nitrogen fractions in a cohort of 1,011 Brown Swiss cows, which uncovered 170 significant single nucleotide polymorphism (SNPs), mostly located on BTA6 and BTA11...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330130/perioperative-electrophysiology-study-in-tetralogy-of-fallot-patients-undergoing-pulmonary-valve-replacement-will-identify-those-at-high-risk-for-subsequent-ventricular-tachycardia
#10
Amneet Sandhu, Emily Ruckdeschel, William H Sauer, Kathryn K Collins, Joseph Kay, Amber Khanna, James Jaggers, David Campbell, Max Mitchell, Duy T Nguyen
BACKGROUND: Ventricular tachyarrhythmias (VAs) are the most common cause of death in patients with repaired Tetralogy of Fallot (TOF), but predicting those at risk remains a challenge. Electrophysiological study (EPS) has been proposed to risk stratify TOF patients. OBJECTIVE: We sought to evaluate a perioperative EPS-guided approach to risk stratify TOF patients undergoing PVR and guide concomitant cryoablation. METHODS: A prospective cohort study of TOF patients undergoing EPS at time of PVR from 2006-present was conducted at 2 centers...
January 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29327717/combined-mutation-and-copy-number-variation-detection-by-targeted-next-generation-sequencing-in-uveal-melanoma
#11
Kyra N Smit, Natasha M van Poppelen, Jolanda Vaarwater, Robert Verdijk, Ronald van Marion, Helen Kalirai, Sarah E Coupland, Sophie Thornton, Neil Farquhar, Hendrikus-Jan Dubbink, Dion Paridaens, Annelies de Klein, Emine Kiliç
Uveal melanoma is a highly aggressive cancer of the eye, in which nearly 50% of the patients die from metastasis. It is the most common type of primary eye cancer in adults. Chromosome and mutation status have been shown to correlate with the disease-free survival. Loss of chromosome 3 and inactivating mutations in BAP1, which is located on chromosome 3, are strongly associated with 'high-risk' tumors that metastasize early. Other genes often involved in uveal melanoma are SF3B1 and EIF1AX, which are found to be mutated in intermediate- and low-risk tumors, respectively...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29325734/fat-mass-and-obesity-associated-gene-rs9939609-polymorphism-is-a-potential-biomarker-of-recurrent-venous-thromboembolism-in-male-but-not-in-female-patients
#12
Abrar Ahmad, Ashfaque A Memon, Jan Sundquist, Peter J Svensson, Bengt Zöller, Kristina Sundquist
Multiple genetic variations have been identified in FTO (fat mass and obesity-associated) gene. Among them, FTO rs9939609 polymorphism is shown to be associated with the risk of primary venous thromboembolism (VTE). However, its role in recurrent VTE is not known. The aim of our study was to investigate the association between FTO rs9939609 polymorphism and the risk of VTE recurrence in a prospective follow-up study in both male and female patients. FTO rs9939609 polymorphism (T/A) was analyzed in the Malmö thrombophilia study (MATS, followed for ~10 years) by using TaqMan PCR...
January 8, 2018: Gene
https://www.readbyqxmd.com/read/29325731/pharmacogenomic-testing-in-child-and-adolescent-psychiatry-an-evidence-based-review
#13
Anna M Wehry, Laura Ramsey, Shane E Dulemba, Sarah A Mossman, Jeffrey R Strawn
Significant advances have been made in the application of pharmacogenomic testing for the treatment of patients with psychiatric disorders. Over the past decade, a number of studies have evaluated the utility of pharmacogenomic testing in pediatric patients with psychiatric disorders. The evidence base for pharmacogenomic testing in youth with depressive and anxiety disorders as well as attention/deficit hyperactivity disorder (ADHD) is reviewed in this article. General pharmacogenomic principles are summarized and functional polymorphisms in P450 enzymes (and associated metabolizer phenotypes), the serotonin transporter promoter polymorphisms, serotonin 2 A receptor genes (e...
January 8, 2018: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/29325115/fast-sleep-spindle-density-is-associated-with-rs4680-val108-158met-genotype-of-catechol-o-methyltransferase-comt
#14
Claudia Schilling, Lena Gappa, Michael Schredl, Fabian Streit, Jens Treutlein, Josef Frank, Michael Deuschle, Andreas Meyer-Lindenberg, Marcella Rietschel, Stephanie H Witt
Study Objectives: Sleep spindles are a hallmark of NREM stage 2 sleep. Fast sleep spindles correlate with cognitive functioning, and are reduced in schizophrenia. Although spindles are highly genetically determined, distinct genetic mechanisms influencing sleep spindle activity have not been identified so far. Spindles are generated within a thalamo-cortical network. Dopaminergic neurotransmission modulates activity within this network and importantly depends on activity of catechol-O-methyltransferase (COMT)...
January 6, 2018: Sleep
https://www.readbyqxmd.com/read/29324815/biophysical-insights-from-a-single-chain-camelid-antibody-directed-against-the-disrupted-in-schizophrenia-1-protein
#15
Antony S K Yerabham, Andreas Müller-Schiffmann, Tamar Ziehm, Andreas Stadler, Sabrina Köber, Xela Indurkhya, Rita Marreiros, Svenja V Trossbach, Nicholas J Bradshaw, Ingrid Prikulis, Dieter Willbold, Oliver H Weiergräber, Carsten Korth
Accumulating evidence suggests an important role for the Disrupted-in-Schizophrenia 1 (DISC1) protein in neurodevelopment and chronic mental illness. In particular, the C-terminal 300 amino acids of DISC1 have been found to mediate important protein-protein interactions and to harbor functionally important phosphorylation sites and disease-associated polymorphisms. However, long disordered regions and oligomer-forming subdomains have so far impeded structural analysis. VHH domains derived from camelid heavy chain only antibodies are minimal antigen binding modules with appreciable solubility and stability, which makes them well suited for the stabilizing proteins prior to structural investigation...
2018: PloS One
https://www.readbyqxmd.com/read/29323885/unraveling-hidden-mg-mn-h-phase-relations-at-high-pressures-and-temperatures-by-in-situ-synchrotron-diffraction
#16
Kristina Spektor, Wilson A Crichton, Sumit Konar, Stanislav Filippov, Johan Klarbring, Sergei I Simak, Ulrich Häussermann
The Mg-Mn-H system was investigated by in situ high pressure studies of reaction mixtures MgH2-Mn-H2. The formation conditions of two complex hydrides with composition Mg3MnH7 were established. Previously known hexagonal Mg3MnH7 (h-Mg3MnH7) formed at pressures 1.5-2 GPa and temperatures between 480 and 500 °C, whereas an orthorhombic form (o-Mg3MnH7) was obtained at pressures above 5 GPa and temperatures above 600 °C. The crystal structures of the polymorphs feature octahedral [Mn(I)H6]5- complexes and interstitial H-...
January 11, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29323248/exploring-the-utility-of-alcohol-flushing-as-an-instrumental-variable-for-alcohol-intake-in-koreans
#17
Yoonsu Cho, Soyoung Kwak, Sarah J Lewis, Kaitlin H Wade, Caroline L Relton, George Davey Smith, Min-Jeong Shin
Previous studies have indicated an association of higher alcohol intake with cardiovascular disease and related traits, but causation has not been definitively established. In this study, the causal effect of alcohol intake on hypertension in 2,011 men and women from the Ansan-Ansung cohort was estimated using an instrumental variable (IV) approach, with both a phenotypic and genotypic instrument for alcohol intake: alcohol flushing and the rs671 genotype (in the alcohol dehydrogenase 2 [ALDH2] gene), respectively...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321351/glutathione-s-transferase-p1-gene-polymorphisms-and-susceptibility-to-coronary-artery-disease-in-a-subgroup-of-north-indian-population
#18
M A Bhat, G Gandhi
The present study aimed to investigate the association of g.313A>G and g.341C>T polymorphisms of GSTP1 with coronary artery disease (CAD) in a subgroup of north Indian population. In the present case-control study, CAD patients (n = 200) and age-matched, sex-matched and ethnicity-matched healthy controls (n = 200) were genotyped for polymorphisms in GSTP1 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genotype distribution of g.313A>Gand g.341C>T polymorphisms of GSTP1 gene was significantly different between cases and controls (P = 0...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29321350/neuro-fuzzy-model-of-homocysteine-metabolism
#19
Shaik Mohammad Naushad, Akella Radha Rama Devi, Sriraman Nivetha, Ganapathy Lakshmitha, Alex Balraj Stanley, Tajamul Hussain, Vijay Kumar Kutala
In view of well-documented association of hyperhomocysteinaemia with a wide spectrum of diseases and higher incidence of vitamin deficiencies in Indians, we proposed a mathematical model to forecast the role of demographic and genetic variables in influencing homocysteinemetabolism and investigated the influence of life style modulations in controlling homocysteine levels. Total plasma homocysteine levels were measured in fasting samples using reverse phase HPLC. Multiple linear regression (MLR) and neuro-fuzzy models were developed...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29321194/polygenic-hazard-score-to-guide-screening-for-aggressive-prostate-cancer-development-and-validation-in-large-scale-cohorts
#20
Tyler M Seibert, Chun Chieh Fan, Yunpeng Wang, Verena Zuber, Roshan Karunamuni, J Kellogg Parsons, Rosalind A Eeles, Douglas F Easton, ZSofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch Garcia, Kenneth Muir, Henrik Grönberg, Fredrik Wiklund, Markus Aly, Johanna Schleutker, Csilla Sipeky, Teuvo Lj Tammela, Børge G Nordestgaard, Sune F Nielsen, Maren Weischer, Rasmus Bisbjerg, M Andreas Røder, Peter Iversen, Tim J Key, Ruth C Travis, David E Neal, Jenny L Donovan, Freddie C Hamdy, Paul Pharoah, Nora Pashayan, Kay-Tee Khaw, Christiane Maier, Walther Vogel, Manuel Luedeke, Kathleen Herkommer, Adam S Kibel, Cezary Cybulski, Dominika Wokolorczyk, Wojciech Kluzniak, Lisa Cannon-Albright, Hermann Brenner, Katarina Cuk, Kai-Uwe Saum, Jong Y Park, Thomas A Sellers, Chavdar Slavov, Radka Kaneva, Vanio Mitev, Jyotsna Batra, Judith A Clements, Amanda Spurdle, Manuel R Teixeira, Paula Paulo, Sofia Maia, Hardev Pandha, Agnieszka Michael, Andrzej Kierzek, David S Karow, Ian G Mills, Ole A Andreassen, Anders M Dale
OBJECTIVES: To develop and validate a genetic tool to predict age of onset of aggressive prostate cancer (PCa) and to guide decisions of who to screen and at what age. DESIGN: Analysis of genotype, PCa status, and age to select single nucleotide polymorphisms (SNPs) associated with diagnosis. These polymorphisms were incorporated into a survival analysis to estimate their effects on age at diagnosis of aggressive PCa (that is, not eligible for surveillance according to National Comprehensive Cancer Network guidelines; any of Gleason score ≥7, stage T3-T4, PSA (prostate specific antigen) concentration ≥10 ng/L, nodal metastasis, distant metastasis)...
January 10, 2018: BMJ: British Medical Journal
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