Copy number variability analysis of pharmacogenes in patients with lymphoma, leukemia, hepatocellular, and lung carcinoma using The Cancer Genome Atlas data.

abstract：OBJECTIVE:To test the hypothesis that the two nonsynonymous single nucleotide polymorphisms at the CB2 cannabinoid receptor gene may have functional consequences on human CB2. METHODS:Q63R, H316Y, and Q63R/H316 mutations were made in recombinant human CB2 by the method of site-directed mutagenesis. After these mutant ...

journal_title：Pharmacogenetics and genomics

authors： Carrasquer A,Nebane NM,Williams WM,Song ZH

更新日期：2010-03-01 00:00:00

abstract：:Recent investigations suggest genetic susceptibility of allopurinol-induced severe cutaneous adverse reactions (SCARs). However, the strength of association was variable according to phenotypes and ethnic backgrounds. To explore genetic markers for allopurinol-induced SCARs in Koreans, we genotyped human leukocyte ant...

journal_title：Pharmacogenetics and genomics

authors： Kang HR,Jee YK,Kim YS,Lee CH,Jung JW,Kim SH,Park HW,Chang YS,Jang IJ,Cho SH,Min KU,Kim SH,Lee KW,Adverse Drug Reaction Research Group in Korea.

更新日期：2011-05-01 00:00:00

abstract：OBJECTIVES:The methyltransferase genotype and pregnancy both influence the arsenic metabolism phenotype, but it is unknown whether these factors interact, explaining the drastic changes in the efficiency of arsenic metabolism observed among pregnant women. The aim of this study was to evaluate the relative contribution...

journal_title：Pharmacogenetics and genomics

authors： Gardner RM,Engström K,Bottai M,Hoque WA,Raqib R,Broberg K,Vahter M

更新日期：2012-07-01 00:00:00

abstract：OBJECTIVE:Glutathione S-transferase enzymes (GSTs; EC: 2.5.1.18) constitute the principal phase II superfamily, which plays a key role in cellular detoxification. GST genes are organized in chromosomal clusters; most of these genes are polymorphic, mainly due to single nucleotide substitutions. Different studies proved...

journal_title：Pharmacogenetics and genomics

authors： Polimanti R,Piacentini S,Fuciarelli M

更新日期：2011-10-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Quetiapine is an atypical antipsychotic drug used to treat schizophrenia and acute episodes of mania. Quetiapine is metabolized by CYP3A enzymes including CYP3A5 and is a substrate of P-glycoprotein, an efflux drug transporter encoded by the ABCB1 gene. We assessed the effects of ABCB1 [c.1236...

journal_title：Pharmacogenetics and genomics

authors： Kim KA,Joo HJ,Lee HM,Park JY

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVES:Immediate reactions - particularly anaphylactic ones - to betalactams are the most common adverse reactions to antibiotics mediated by a specific immunologic mechanism. The genetic risk factors influencing these mechanisms are poorly known. We aimed to evaluate the association between immediate allergic reac...

journal_title：Pharmacogenetics and genomics

authors： Guéant-Rodriguez RM,Romano A,Béri-Dexheimer M,Viola M,Gaeta F,Guéant JL

更新日期：2006-10-01 00:00:00

abstract：OBJECTIVE:Identification of biomarkers that could predict gemcitabine efficacy and toxicity is a key issue in the development of individualized therapy. The aim of our study was to evaluate the influence of gemcitabine pathway polymorphisms on treatment outcome in patients with malignant mesothelioma (MM). METHODS:In ...

journal_title：Pharmacogenetics and genomics

authors： Erčulj N,Kovač V,Hmeljak J,Franko A,Dodič-Fikfak M,Dolžan V

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:HIV infection has been associated with dyslipidemia, insulin resistance, and changes in body composition, including loss of subcutaneous fat and skeletal muscle, with relative sparing of upper trunk and visceral fat. Because of its resemblance to Cushing's syndrome, caused by glucocorticoid excess, we hypoth...

journal_title：Pharmacogenetics and genomics

authors： Manenschijn L,Scherzer R,Koper JW,Danoff A,van Rossum EF,Grunfeld C

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVE:The objective of the present study was to evaluate whether germline methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms as well as polymorphisms in the thymidylate synthase gene promoter, namely the variable number tandem repeat polymorphism (TS VNTR) and the intrarepeat G to C single n...

journal_title：Pharmacogenetics and genomics

authors： Terrazzino S,Agostini M,Pucciarelli S,Pasetto LM,Friso ML,Ambrosi A,Lisi V,Leon A,Lise M,Nitti D

更新日期：2006-11-01 00:00:00

abstract：RATIONALE:Selecting an effective treatment for patients with major depressive disorder is a perpetual problem for psychiatrists. It is of particular interest to explore the interaction between genetic predisposition and environmental factors. OBJECTIVES:Mouse inbred strains vary in baseline performance in depression-r...

journal_title：Pharmacogenetics and genomics

authors： Binder E,Malki K,Paya-Cano JL,Fernandes C,Aitchison KJ,Mathé AA,Sluyter F,Schalkwyk LC

更新日期：2011-12-01 00:00:00

abstract：OBJECTIVES:Controversy exists regarding the effects of polymorphisms in the endothelial nitric oxide synthase (eNOS) gene on nitrites/nitrates (NOx) plasma concentrations. In this study we compared the distribution of haplotypes involving three relevant eNOS polymorphisms (T-786C in the promoter region; b/a in intron 4...

journal_title：Pharmacogenetics and genomics

authors： Metzger IF,Souza-Costa DC,Marroni AS,Nagassaki S,Desta Z,Flockhart DA,Tanus-Santos JE

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:The immunosuppressive drug tacrolimus requires strict therapeutic monitoring due to its narrow therapeutic index and great inter-individual variability. Cytochrome P450 3A4 (Cyp3A4) and Cyp3A5 are the most important contributors to tacrolimus metabolism while the P-glycoprotein pump (MDR-1) modulates its bioa...

journal_title：Pharmacogenetics and genomics

authors： Roy JN,Barama A,Poirier C,Vinet B,Roger M

更新日期：2006-09-01 00:00:00

abstract：OBJECTIVES:This study aimed to explore the influence of variation in DRD2, DRD3, CYP2D6, CYP3A4, and CYP3A5 genes on treatment resistance to typical neuroleptics in a Brazilian sample of patients with schizophrenia. METHODS:One polymorphism at DRD2 gene, five at DRD3, 24 at CYP2D6, nine at CYP3A4 gene, and one at CYP3...

journal_title：Pharmacogenetics and genomics

authors： Kohlrausch FB,Gama CS,Lobato MI,Belmonte-de-Abreu P,Callegari-Jacques SM,Gesteira A,Barros F,Carracedo A,Hutz MH

更新日期：2008-07-01 00:00:00

abstract：OBJECTIVE:The prototypical atypical antipsychotic agent, clozapine, is more efficacious for refractory schizophrenia than the 'typical' antipsychotics, but the mechanism underlying this enhanced efficacy is still under investigation. Since 2002, at least 22 association studies have shown that the DTNBP1 can be associat...

journal_title：Pharmacogenetics and genomics

authors： Zuo L,Luo X,Krystal JH,Cramer J,Charney DS,Gelernter J

更新日期：2009-06-01 00:00:00

abstract：:The study aimed to investigate whether polymorphisms in genes of the EGFR signaling pathway are associated with clinical outcome in advanced colorectal cancer (CRC) patients treated with single-agent Cetuximab. Polymorphisms of interest in the EGFR pathway include: cyclin D1 (CCND1) A870G, cyclooxygenase 2 (Cox-2) G-7...

journal_title：Pharmacogenetics and genomics

authors： Zhang W,Gordon M,Press OA,Rhodes K,Vallböhmer D,Yang DY,Park D,Fazzone W,Schultheis A,Sherrod AE,Iqbal S,Groshen S,Lenz HJ

更新日期：2006-07-01 00:00:00

abstract：OBJECTIVES:The development of targeted drugs would greatly benefit from the simultaneous identification of biomarkers to determine the aspects of bioactivity, drug safety and efficacy, particularly when affecting receptor-signaling pathways. However, the establishment of appropriate systems to monitor drug-induced even...

journal_title：Pharmacogenetics and genomics

authors： Classen S,Muth C,Debey-Pascher S,Eggle D,Beyer M,Mallmann MR,Rudlowski C,Zander T,Pölcher M,Kuhn W,Lahn M,Schultze JL,Staratschek-Jox A

更新日期：2010-03-01 00:00:00

abstract：:Heterotrimeric guanine-binding proteins (G proteins) transmit signals from the cell surface to intracellular signal cascades. The β3-subunit encoded by the gene GNB3 is widely expressed and, therefore, involved in various physiological and pathophysiological processes. A C825T polymorphism located in exon 10 of GNB3 w...

journal_title：Pharmacogenetics and genomics

authors： Klenke S,Kussmann M,Siffert W

更新日期：2011-09-01 00:00:00

abstract：:The existence of genetic polymorphisms in metabolizing enzymes can be regarded as one of the principal causes of interindividual variation in response to drugs and adverse reactions. In the case of enzyme CYP2C9, the presence of genetic coding variants could be considered a risk factor for suffering from gastrointesti...

journal_title：Pharmacogenetics and genomics

authors： Estany-Gestal A,Salgado-Barreira A,Sánchez-Diz P,Figueiras A

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:Pharmacogenetic research has shown that genetic variation may influence statin responsiveness. Statins exert a variety of beneficial effects beyond lipid lowering, including antithrombotic effects, which contribute to the risk reduction of cardiovascular disease. Statins have been shown to influence the expr...

journal_title：Pharmacogenetics and genomics

authors： Maitland-van der Zee AH,Peters BJ,Lynch AI,Boerwinkle E,Arnett DK,Cheng S,Davis BR,Leiendecker-Foster C,Ford CE,Eckfeldt JH

更新日期：2009-05-01 00:00:00

abstract：OBJECTIVES:Epidemiological studies documented associations between single nucleotide polymorphisms (SNPs) in the nucleotide excision repair gene XPD/ERCC2 and cancer risk. Little is known, however, about the underlying mechanisms for these associations. We explored a novel mechanism that could further explain the repor...

journal_title：Pharmacogenetics and genomics

authors： Wolfe KJ,Wickliffe JK,Hill CE,Paolini M,Ammenheuser MM,Abdel-Rahman SZ

更新日期：2007-11-01 00:00:00

abstract：OBJECTIVE:Corticotropin-releasing hormone receptor (CRHR)-2 participates in smooth muscle relaxation response and may influence acute airway bronchodilator response to short-acting beta2-agonist treatment of asthma. We aim to assess associations between genetic variants of CRHR2 and acute bronchodilator response in ast...

journal_title：Pharmacogenetics and genomics

authors： Poon AH,Tantisira KG,Litonjua AA,Lazarus R,Xu J,Lasky-Su J,Lima JJ,Irvin CG,Hanrahan JP,Lange C,Weiss ST

更新日期：2008-05-01 00:00:00

abstract：OBJECTIVES:We tested the effect of kidney-specific multidrug resistance-related protein (MRP2, ABCC2) deficiency on renal organic solute disposition as well as on renal protein and gene expression. Furthermore, we investigated whether a particular kidney donor ABCC2 genotype is associated with delayed graft function in...

journal_title：Pharmacogenetics and genomics

authors： Grisk O,Steinbach AC,Ciecholewski S,Schlüter T,Klöting I,Schmidt H,Dazert E,Schaeffeler E,Steil L,Gauer S,Jedlitschky G,Schwab M,Geisslinger G,Hauser IA,Völker U,Kroemer HK,Rettig R

更新日期：2009-04-01 00:00:00

abstract：OBJECTIVES:A total of 2402 patients with arsenic-related skin lesions, such as hyperkeratosis, hyperpigmentation or hypopigmentation, or even skin cancer in a few villages in Southwest Guizhou Autonomous Prefecture, China represent a unique case of endemic arsenism related with indoor combustion of high arsenic coal. T...

journal_title：Pharmacogenetics and genomics

authors： Lin GF,Du H,Chen JG,Lu HC,Guo WC,Meng H,Zhang TB,Zhang XJ,Lu DR,Golka K,Shen JH

更新日期：2006-12-01 00:00:00

abstract：OBJECTIVE:Nicotine, the main addictive ingredient in tobacco, is metabolically inactivated to cotinine primarily by the hepatic enzyme CYP2A6. Considerable genetic variation in the CYP2A6 gene results in large variation in the rates of nicotine metabolism, which in turn alters smoking behaviours (e.g. amount of cigaret...

journal_title：Pharmacogenetics and genomics

authors： Piliguian M,Zhu AZ,Zhou Q,Benowitz NL,Ahluwalia JS,Sanderson Cox L,Tyndale RF

更新日期：2014-02-01 00:00:00

abstract：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 1...

journal_title：Pharmacogenetics and genomics

authors： Colleoni L,Galbardi B,Barzago C,Bonanno S,Franzi S,Frangiamore R,Camera G,Foti M,Biancolini D,Canioni E,Maggi L,Antozzi C,Mantegazza R,Bernasconi P,Kapetis D

更新日期：2017-02-01 00:00:00

abstract：OBJECTIVES:We aimed to assess a functional polymorphism in FCGR2A H131R, for association with the treatment response to Fc-containing inhibitors of tumor necrosis factor (TNF). METHODS:A total of 429 biologic-naive patients with rheumatoid arthritis collected in two sets (299 and 130) were treated during standard care...

journal_title：Pharmacogenetics and genomics

authors： Montes A,Perez-Pampin E,Narváez J,Cañete JD,Navarro-Sarabia F,Moreira V,Fernández-Nebro A,Del Carmen Ordóñez M,de la Serna AR,Magallares B,Vasilopoulos Y,Sarafidou T,Caliz R,Ferrer MA,Joven B,Carreira P,Gómez-Reino JJ,G

更新日期：2014-05-01 00:00:00

abstract：:Two recent screens for copy-number variations in the entire human genome found 12.4 gene copy number variations per person, including 2.5% of individuals with gains between 7q21.1 and 7q22.1, the chromosomal location of CYP3A4. CYP3A4 is involved in the metabolism of approximately 50% of all drugs, including many canc...

journal_title：Pharmacogenetics and genomics

authors： Lamba JK,Chen X,Lan LB,Kim JW,Wei Wang X,Relling MV,Kazuto Y,Watkins PB,Strom S,Sun D,Schuetz JD,Schuetz EG

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND/AIMS:Several single-nucleotide polymorphisms (SNPs) in the catechol-O-methyltransferase (COMT) gene have been associated with the risk of developing Parkinson's disease (PD). We conducted a systematic review and a meta-analysis including all the studies published on PD risk related with COMT SNPs (mainly rs4...

journal_title：Pharmacogenetics and genomics

authors： Jiménez-Jiménez FJ,Alonso-Navarro H,García-Martín E,Agúndez JA

更新日期：2014-07-01 00:00:00

abstract：OBJECTIVE:As no single nucleotide polymorphism has emerged as pivotal to predict the lack of efficacy and dose-limiting toxicities to methotrexate (MTX), we evaluated the contribution of gene-gene interactions to the effects of this prodrug in rheumatoid arthritis. METHODS:A total of 255 patients treated with MTX for ...

journal_title：Pharmacogenetics and genomics

authors： Dervieux T,Wessels JA,van der Straaten T,Penrod N,Moore JH,Guchelaar HJ,Kremer JM

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:Paraoxonase-1 (PON1) is synthesized in the liver and is bound to high-density lipoprotein particles in blood. PON1 protects against the development of atherosclerosis by metabolizing proatherogenic-oxidized lipids. The Southeastern USA (excluding Florida) has the country's highest age-adjusted mortality rate ...

journal_title：Pharmacogenetics and genomics

authors： Coombes RH,Crow JA,Dail M,Chambers HW,Wills RW,Barry D. Bertolet for CARe.,Chambers JE

更新日期：2011-12-01 00:00:00