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Pharmacogenetics and Genomics

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https://www.readbyqxmd.com/read/27926584/common-single-nucleotide-polymorphisms-in-transient-receptor-potential-melastatin-type-6-increase-the-risk-for-proton-pump-inhibitor-induced-hypomagnesemia-a-case-control-study
#1
Mark W Hess, Jeroen H F de Baaij, Mark M T J Broekman, Tanya M Bisseling, Bertram J T Haarhuis, Adriaan C I T L Tan, René H M Te Morsche, Joost G J Hoenderop, René J M Bindels, Joost P H Drenth
OBJECTIVE: Proton pump inhibitors (PPIs) are effective drugs for the treatment of gastric acid-related disorders. Serious adverse events are rare for PPIs, but recent data suggest that PPIs cause hypomagnesemia. The aim of this study was to estimate the frequency of PPI-induced hypomagnesemia and to define the risk factors for its development. MATERIALS AND METHODS: A total of 133 chronic users of PPIs were enrolled and patients were distinguished on the basis of their serum Mg concentrations...
December 6, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27922550/a-novel-abcc6-haplotype-is-associated-with-azathioprine-drug-response-in-myasthenia-gravis
#2
Lara Colleoni, Barbara Galbardi, Claudia Barzago, Silvia Bonanno, Sara Franzi, Rita Frangiamore, Giorgia Camera, Maria Foti, Donatella Biancolini, Eleonora Canioni, Lorenzo Maggi, Carlo Antozzi, Renato Mantegazza, Pia Bernasconi, Dimos Kapetis
OBJECTIVE: We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to determine possible genotype-phenotype correlations. PATIENTS AND METHODS: Genomic DNA from 180 AZA-treated MG patients was screened through the Affymetrix DMET platform, which characterizes 1931 SNPs in 225 genes. The significant SNPs, identified to be involved in AZA response, were subsequently validated by allelic discrimination and direct sequencing...
December 2, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27846189/the-plausible-association-of-mthfr-and-adora2a-polymorphisms-with-nodules-in-rheumatoid-arthritis-patients-treated-with-methotrexate
#3
Tomas Soukup, Martin Dosedel, Jana Nekvindova, Ales Antonin Kubena, Ilja Tacheci, Jurjen Duintjer Tebbens, Jiri Vlcek, Petr Bradna, Ivan Barvik, Petr Pavek
OBJECTIVE: The treatment of rheumatoid arthritis (RA) patients with methotrexate (MTX) is linked to the development or progression of rheumatoid nodules. The aim of this study was to determine whether folate and adenosine pathways-related single nucleotide polymorphisms might be predictive of increased nodule formation in RA patients treated with oral MTX. METHODS: A total of 185 Caucasian RA patients were enrolled in this cross-sectional study, all of whom fulfilled the 1987 RA criteria of the American College of Rheumatology; each patient had a history of MTX treatment...
November 14, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27846195/genome-wide-association-study-of-paliperidone-efficacy
#4
Qingqin Li, Nathan E Wineinger, Dong-Jing Fu, Ondrej Libiger, Larry Alphs, Adam Savitz, Srihari Gopal, Nadine Cohen, Nicholas J Schork
OBJECTIVE: Clinical response to the atypical antipsychotic paliperidone is known to vary among schizophrenic patients. We carried out a genome-wide association study to identify common genetic variants predictive of paliperidone efficacy. METHODS: We leveraged a collection of 1390 samples from individuals of European ancestry enrolled in 12 clinical studies investigating the efficacy of the extended-release tablet paliperidone ER (n1=490) and the once-monthly injection paliperidone palmitate (n2=550 and n3=350)...
November 11, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27831961/nomenclature-for-alleles-of-the-human-carboxylesterase-1-gene
#5
Henrik B Rasmussen, Majbritt B Madsen, Peter R Hansen
No abstract text is available yet for this article.
November 9, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27787353/modelling-of-atorvastatin-pharmacokinetics-and-the-identification-of-the-effect-of-a-bcrp-polymorphism-in-the-japanese-population
#6
Nikolaos Tsamandouras, Yingying Guo, Thierry Wendling, Stephen Hall, Aleksandra Galetin, Leon Aarons
AIM: Ethnicity plays a modulating role in atorvastatin pharmacokinetics (PK), with Asian patients reported to have higher exposure compared with Caucasians. Therefore, it is difficult to safely extrapolate atorvastatin PK data and models across ethnic groups. This work aims to develop a population PK model for atorvastatin and its pharmacologically active metabolites specifically for the Japanese population. Subsequently, it aimed to identify genetic polymorphisms affecting atorvastatin PK in this population...
October 26, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27779571/concordance-between-actual-and-pharmacogenetic-predicted-desvenlafaxine-dose-needed-to-achieve-remission-in-major-depressive-disorder-a-10-week-open-label-study
#7
Chad A Bousman, Daniel J Müller, Chee H Ng, Keith Byron, Michael Berk, Ajeet B Singh
BACKGROUND: Pharmacogenetic-based dosing support tools have been developed to personalize antidepressant-prescribing practice. However, the clinical validity of these tools has not been adequately tested, particularly for specific antidepressants. OBJECTIVE: To examine the concordance between the actual dose and a polygene pharmacogenetic predicted dose of desvenlafaxine needed to achieve symptom remission. MATERIALS AND METHODS: A 10-week, open-label, prospective trial of desvenlafaxine among Caucasian adults with major depressive disorder (n=119) was conducted...
October 24, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27779570/the-influence-of-living-donor-shroom3-and-abcb1-genetic-variants-on-renal-function-after-kidney-transplantation
#8
Lin Yan, Yi Li, Jiang-Tao Tang, Yun-Fei An, Li-Mei Luo, Bo Dai, Yun-Ying Shi, Lan-Lan Wang
OBJECTIVE: A genome-wide association study has identified several gene polymorphisms associated with loss of renal function. The effect of these variants on renal function in kidney transplant recipients receiving immunosuppressive treatment is unknown. MATERIALS AND METHODS: A cohort of 189 kidney transplant recipients and their living donors were recruited from West China Hospital of Sichuan University, on whom we assessed the association of five single nucleotide polymorphisms with renal function after kidney transplantation...
October 24, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27741037/prediction-of-early-weight-gain-during-psychotropic-treatment-using-a-combinatorial-model-with-clinical-and-genetic-markers
#9
Frederik Vandenberghe, Núria Saigí-Morgui, Aurélie Delacrétaz, Lina Quteineh, Séverine Crettol, Nicolas Ansermot, Mehdi Gholam-Rezaee, Armin von Gunten, Philippe Conus, Chin B Eap
BACKGROUND: Psychotropic drugs can induce significant (>5%) weight gain (WG) already after 1 month of treatment, which is a good predictor for major WG at 3 and 12 months. The large interindividual variability of drug-induced WG can be explained in part by genetic and clinical factors. AIM: The aim of this study was to determine whether extensive analysis of genes, in addition to clinical factors, can improve prediction of patients at risk for more than 5% WG at 1 month of treatment...
October 12, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27749688/hla-a-02-alleles-are-associated-with-tetanus-antitoxin-induced-exanthematous-drug-eruptions-in-chinese-patients
#10
Sijia Yan, Sheng-An Chen, Wen Zhang, Fanping Yang, Ying Yang, Qinyuan Zhu, Huizhong Zhu, Xinfen Sun, Menglin Jiang, Yu Su, Lirong Zhang, Qinghe Xing, Xiaoqun Luo
OBJECTIVE: Tetanus antitoxin (TAT) is an effective antitetanus medicine, but may sometimes cause adverse drug reactions such as rapid-onset anaphylactic shock and late-onset cutaneous adverse drug reactions, including exanthematous drug eruptions (EDE). Human leukocyte antigen (HLA) class I alleles are strongly associated with different types of cutaneous adverse drug reactions. This study aimed to assess whether there is an association between TAT-induced EDE and HLA-A, HLA-B, and HLA-C alleles in the Chinese Han population...
October 5, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27636560/pharmgkb-summary-ivacaftor-pathway-pharmacokinetics-pharmacodynamics
#11
Alison E Fohner, Ellen M McDonagh, John P Clancy, Michelle Whirl Carrillo, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
January 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27749787/genetic-variations-associated-with-gemcitabine-treatment-outcome-in-pancreatic-cancer
#12
Liang Li, Jian-Wei Zhang, Gregory Jenkins, Fang Xie, Erin E Carlson, Brooke L Fridley, William R Bamlet, Gloria M Petersen, Robert R McWilliams, Liewei Wang
BACKGROUND: Pancreatic cancer is a rapidly fatal disease with gemcitabine remaining the first-line therapy. We performed a genotype-phenotype association study to identify biomarkers for predicting gemcitabine treatment outcome. MATERIALS AND METHODS: We selected the top 200 single nucleotide polymorphisms (SNPs) identified from our previous genome-wide association study to associate with overall survival using 400 patients treated with/or without gemcitabine, followed by imputation analysis for regions around the identified SNPs and a replication study using an additional 537 patients by the TaqMan genotyping assay...
December 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27654872/pharmgkb-summary-very-important-pharmacogene-information-for-mt-rnr1
#13
Julia M Barbarino, Tracy L McGregor, Russ B Altman, Teri E Klein
No abstract text is available yet for this article.
December 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27660918/pharmacogenetic-study-focused-on-fluoxetine-pharmacodynamics-in-children-and-adolescent-patients-impact-of-the-serotonin-pathway
#14
Sergi Mas, Ana Blázquez, Natalia Rodríguez, Daniel Boloc, Amalia Lafuente, Joan A Arnaiz, Luisa Lázaro, Patricia Gassó
OBJECTIVE: Pharmacogenetic studies of fluoxetine in children and adolescents are scarce. After reporting the effect of genetic variants in genes related to the fluoxetine pharmacokinetics on clinical response in a pediatric population, we now evaluate the impact of genetic markers involved in its pharmacodynamics. PATIENTS AND METHODS: The assessment was performed in 83 patients after 12 weeks of fluoxetine treatment. The genetic association analysis included a total of 316 validated single nucleotide polymorphisms in 45 candidate genes involved in six different pathways...
November 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27649261/mir-pharmacogenetics-of-methotrexate-in-childhood-b-cell-acute-lymphoblastic-leukemia
#15
Leire Iparraguirre, Angela Gutierrez-Camino, Maitane Umerez, Idoia Martin-Guerrero, Itziar Astigarraga, Aurora Navajas, Ana Sastre, Nagore Garcia de Andoin, Africa Garcia-Orad
OBJECTIVES: Methotrexate (MTX), the key drug in childhood B-cell acute lymphoblastic leukemia (B-ALL) therapy, often causes toxicity. An association between genetic variants in MTX transport genes and toxicity has been found. It is known that these transporters are regulated by microRNAs (miRNAs), and miRNA single nucleotide polymorphisms (SNPs) interfere with miRNA levels or function. With regard to B-cell ALL, we have previously found rs56103835 in miR-323b that targets ABCC4 associated with MTX plasma levels...
November 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27632229/genetic-determinants-of-variability-in-warfarin-response-after-the-dose-titration-phase
#16
Otito F Iwuchukwu, Andrea H Ramirez, Yaping Shi, Erica A Bowton, Vivian K Kawai, Jonathan S Schildcrout, Dan M Roden, Joshua C Denny, C Michael Stein
OBJECTIVES: Genetic factors contribute considerably toward variability in warfarin dose requirements and are important in the dose-titration phase; their effects on the stability of anticoagulation later in therapy are not known. METHODS: Using deidentified electronic medical records linked to a DNA-biobank, we studied 140 African-Americans and 943 European-Americans after the warfarin dose-titration phase. We genotyped 12 single nucleotide polymorphisms in genes (CYP2C9, VKORC1, CYP4F2, GGCX, EPHX1, CALU) associated with altered warfarin dose requirements and tested their associations with international normalized ratio variability (INRVAR) and percent time in therapeutic range in European-Americans and African-Americans...
November 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27602548/a-novel-block-at-chromosome-12q24-1-is-associated-with-coronary-artery-disease-in-han-chinese-populations
#17
Feng Jiang, Han Yan, Chong Wu, Chun Song, Bin Zhao, Yang Li, Jie Dong, Gu-Yan Zheng, Li-Juan Jin, Xue-Qi Li, Wei-Yang Li, Jun Cai, Xin-Chun Yang, Xiao-Li Tian
OBJECTIVE: The aim of this study was to refine the chromosomal region 12q24.1 associated with coronary artery disease in Han Chinese populations. METHODS AND RESULTS: Twenty tagging single nucleotide polymorphisms covering 1.2 Mb of chromosomal 12q24.1 were selected and genotyped in three geographically isolated case-control populations consisting of 7076 coronary artery disease (CAD) patients and non-CAD participants. In addition to replication of the previous block (block 1), we identified a novel block (block 2) associated with CAD...
November 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27602547/impact-of-il1b-gene-polymorphisms-and-interleukin-1b-levels-on-susceptibility-to-spontaneous-preterm-birth
#18
Immaculate M Langmia, Yamunah D Apalasamy, Siti Z Omar, Zahurin Mohamed
OBJECTIVE: Genetic factors influence susceptibility to preterm birth (PTB) and the immune pathway of PTB that involves the production of cytokines such as interleukins has been implicated in PTB disease. The aim of this study is to investigate the association of interleukin 1β (IL1B) gene polymorphisms and IL1B levels with spontaneous PTB. STUDY DESIGN: Peripheral maternal blood from 495 women was used for extraction of DNA and genotyping was carried out using the Sequenom MassARRAY platform...
November 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27509478/pharmacogenetics-of-efavirenz-discontinuation-for-reported-central-nervous-system-symptoms-appears-to-differ-by-race
#19
Paul Leger, Sanika Chirwa, Megan Turner, Danielle M Richardson, Paxton Baker, Michael Leonard, Husamettin Erdem, Lana Olson, David W Haas
BACKGROUND: Efavirenz frequently causes central nervous system (CNS) symptoms. We evaluated genetic associations with efavirenz discontinuation for CNS symptoms within 12 months of treatment initiation. METHODS: Patients had initiated efavirenz-containing regimens at an HIV primary care clinic in the Southeastern United States and had at least 12 months of follow-up data. Polymorphisms in CYP2B6 and CYP2A6 defined efavirenz metabolizer categories. Genome-wide genotyping enabled adjustment for population stratification...
October 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27500822/%C3%AE-1-adrenergic-receptor-arg389gly-polymorphism-affects-the-antiarrhythmic-efficacy-of-flecainide-in-patients-with-coadministration-of-%C3%AE-blockers
#20
Kosuke Doki, Yukio Sekiguchi, Keisuke Kuga, Kazutaka Aonuma, Masato Homma
OBJECTIVE: β1-Adrenergic receptor (β1-AR) stimulation modulates the antiarrhythmic activities of sodium channel blockers. The β1-AR Gly389 variant shows a marked decrease in agonist-stimulated cyclic AMP production compared with that of the wild-type Arg389 in vitro. We investigated whether the Arg389Gly polymorphism affects the efficacy of flecainide, a typical sodium channel blocker, in patients with or without coadministration of β-blockers. METHODS: The effects of the β1-AR Arg389Gly polymorphism on the antiarrhythmic efficacy of flecainide were compared between with and without coadministered β-blockers in 159 patients with supraventricular tachyarrhythmia...
October 2016: Pharmacogenetics and Genomics
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