Functional assessment of genetic variants located in the promoter of SHP1 (NR0B2).

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: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：:We have identified the ATP-binding cassette (ABC) transporter ABCC4 as an active constituent of mediator-storing granules in human platelets. In addition to multidrug resistance protein 4, other ABC-type transport proteins may contribute to platelet secretory function as well as determine intended or adverse effects o...

journal_title：Pharmacogenetics and genomics

authors： Niessen J,Jedlitschky G,Grube M,Kawakami H,Kamiie J,Ohtsuki S,Schwertz H,Bien S,Starke K,Ritter C,Strobel U,Greinacher A,Terasaki T,Kroemer HK

更新日期：2010-06-01 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：OBJECTIVE:The aim of this study was to assess whether the CYP2C9*2 and/or *3 variants might modify the risk for NSAID-related upper gastrointestinal bleeding (UGIB) in NSAID users. PATIENTS AND METHODS:We conducted a multicenter, case-control study in which cases were patients aged more than 18 years with a diagnosis ...

journal_title：Pharmacogenetics and genomics

authors： Figueiras A,Estany-Gestal A,Aguirre C,Ruiz B,Vidal X,Carvajal A,Salado I,Salgado-Barreira A,Rodella L,Moretti U,Ibáñez L,EMPHOGEN group.

更新日期：2016-02-01 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：OBJECTIVES:The aim of this study was to evaluate the effect of polymorphisms affecting the clopidogrel metabolism (CYP3A4 IVS10+12G/A and CYP2C19*2) and the P2Y12 receptor (P2Y12 T744C) on modulating platelet function in acute coronary syndrome patients on dual antiplatelet treatment. BACKGROUND:Residual platelet reac...

journal_title：Pharmacogenetics and genomics

authors： Giusti B,Gori AM,Marcucci R,Saracini C,Sestini I,Paniccia R,Valente S,Antoniucci D,Abbate R,Gensini GF

更新日期：2007-12-01 00:00:00

abstract：OBJECTIVES:Body weight regulation is under complex control involving the central nervous system and peripheral pathways. The beta-adrenoceptor Galphas protein system plays an important role in heart rate regulation and lipid mobilization suggesting a key role for the stimulatory G protein Galphas in body weight regulat...

journal_title：Pharmacogenetics and genomics

authors： Frey UH,Hauner H,Jöckel KH,Manthey I,Brockmeyer N,Siffert W

更新日期：2008-02-01 00:00:00

abstract：OBJECTIVE:To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ). METHODS:T cells grown from normal individuals or from patients with Fabry disease were tested for ...

journal_title：Pharmacogenetics and genomics

authors： Shin SH,Kluepfel-Stahl S,Cooney AM,Kaneski CR,Quirk JM,Schiffmann R,Brady RO,Murray GJ

更新日期：2008-09-01 00:00:00

abstract：BACKGROUND/OBJECTIVES:The zeta-1 family isoform of GST biotransforms the investigational drug dichloroacetate (DCA) and certain other halogenated carboxylic acids. Haplotype variability in GSTZ1 influences the kinetics and, possibly, the toxicity of DCA. DCA metabolism correlates with expression of the GSTZ1 protein, s...

journal_title：Pharmacogenetics and genomics

authors： Langaee TY,Zhong G,Li W,Hamadeh I,Solayman MH,McDonough CW,Stacpoole PW,James MO

更新日期：2015-05-01 00:00:00

abstract：INTRODUCTION:Cytochrome P450 1A2 (CYP 1A2) is responsible for more than 90% of caffeine clearance. A polymorphic variant of CYP1A2 (-163C>A) (rs762551) is associated with high CYP1A2 inducibility. Both caffeine and its main metabolite, paraxanthine, may be neuroprotective. The association between caffeine intake and ri...

journal_title：Pharmacogenetics and genomics

authors： Tan EK,Chua E,Fook-Chong SM,Teo YY,Yuen Y,Tan L,Zhao Y

更新日期：2007-11-01 00:00:00

abstract：OBJECTIVE:Several antiepileptic drugs (AEDs) are known to target the GABA(A) receptor through positive allosteric modulation of the receptors, thereby enhancing GABA(A) receptor-mediated inhibition. The large diversity of GABA(A) receptors has been reported in the central nervous system; some of these have been implica...

journal_title：Pharmacogenetics and genomics

authors： Balan S,Sathyan S,Radha SK,Joseph V,Radhakrishnan K,Banerjee M

更新日期：2013-11-01 00:00:00

abstract：OBJECTIVES:To assess the influence of individual methylenetetrahydrofolate reductase (MTHFR) C677T and methionine synthase A2756G polymorphisms on the change of serum folate concentration in response to different dosages and durations of folic acid (FA) supplementation in hypertensive Chinese adults. METHODS:A total o...

journal_title：Pharmacogenetics and genomics

authors： Qin X,Li J,Cui Y,Liu Z,Zhao Z,Ge J,Guan D,Hu J,Wang Y,Zhang F,Xu X,Wang X,Xu X,Huo Y

更新日期：2012-06-01 00:00:00

abstract：OBJECTIVE:The present study was designed to investigate whether genetic polymorphisms of the aryl hydrocarbon receptor (AHR) signaling pathway are involved in the molecular basis of essential hypertension (EH). METHODS:A total of 2160 unrelated Russian individuals comprising 1341 EH patients and 819 healthy controls w...

journal_title：Pharmacogenetics and genomics

authors： Polonikov AV,Bushueva OY,Bulgakova IV,Freidin MB,Churnosov MI,Solodilova MA,Shvetsov YD,Ivanov VP

更新日期：2017-02-01 00:00:00

abstract：:UGT1A1 is induced by phenobarbital. We investigated whether three common UGT1A1 variants are associated with the variability in UGT1A1 inducibility. Human hepatocytes were incubated with 2 mM phenobarbital for 2 and 6 days followed by 5 microM SN-38 (1 h), a UGT1A1 probe. SN-38 glucuronidation in the cell media was me...

journal_title：Pharmacogenetics and genomics

authors： Ramírez J,Komoroski BJ,Mirkov S,Graber AY,Fackenthal DL,Schuetz EG,Das S,Ratain MJ,Innocenti F,Strom SC

更新日期：2006-02-01 00:00:00

abstract：:Several novel single nucleotide polymorphisms (SNPs) involved in cytarabine cytotoxicity and related to clinical outcomes have been reported recently in a series of 232 pediatric patients with acute myeloid leukemia (AML). We report the first adult AML cohort in which the influence of these SNPs in cytarabine efficacy...

journal_title：Pharmacogenetics and genomics

authors： Megías-Vericat JE,Montesinos P,Herrero MJ,Moscardó F,Bosó V,Martínez-Cuadrón D,Poveda JL,Sanz MÁ,Aliño SF

更新日期：2017-07-01 00:00:00

abstract：BACKGROUND:For prevention of joint destruction in rheumatoid arthritis, optimal management of therapy with disease-modifying antirheumatic drugs is essential. Pharmacogenomic evidence, if reliable, may be incorporated in the treatment of rheumatoid arthritis to achieve a more efficient activity control with minimized a...

journal_title：Pharmacogenetics and genomics

authors： Taniguchi A,Urano W,Tanaka E,Furihata S,Kamitsuji S,Inoue E,Yamanaka M,Yamanaka H,Kamatani N

更新日期：2007-06-01 00:00:00

abstract：OBJECTIVES:To analyze whether gene variants leading to impaired drug metabolism are related with acute gastrointestinal bleeding after nonsteroidal anti-inflammatory drugs (NSAID) use. METHODS:Common CYP2C8 and CYP2C9 polymorphisms were studied in a cross-sectional study, involving 134 NSAID-related bleeding patients ...

journal_title：Pharmacogenetics and genomics

authors： Blanco G,Martínez C,Ladero JM,Garcia-Martin E,Taxonera C,Gamito FG,Diaz-Rubio M,Agundez JA

更新日期：2008-01-01 00:00:00

abstract：OBJECTIVE:Compared with genetic factors, drug interactions are largely unexplored in pharmacogenetic studies. This study sought to systematically investigate the effects of VKORC1, STX4A, CYP2C9, CYP4F2, CYP3A4, and GGCX gene polymorphisms and interacting drugs on warfarin maintenance dose. METHODS:A retrospective stu...

journal_title：Pharmacogenetics and genomics

authors： Zhong SL,Yu XY,Liu Y,Xu D,Mai LP,Tan HH,Lin QX,Yang M,Lin SG

更新日期：2012-03-01 00:00:00

abstract：BACKGROUND/AIM:Cytochrome P450 oxidoreductase (POR) is required for drug metabolism by all microsomal cytochrome P450 (CYP) enzymes. The aim of this study was to investigate whether single-nucleotide polymorphisms in the POR gene were correlated with interindividual variations in CYP2B6 activity, as measured by bupropi...

journal_title：Pharmacogenetics and genomics

authors： Lv J,Hu L,Zhuo W,Zhang C,Zhou H,Fan L

更新日期：2016-02-01 00:00:00

abstract：:The human cytochrome P450 2A6 (CYP2A6) enzyme metabolizes several xenobiotic compounds of clinical or toxicological importance. We aimed to identify genetic variants and major CYP2A6 haplotypes associated with CYP2A6 phenotypic variation. CYP2A6 mRNA level, protein level, activity and haplotypes were determined in Cau...

journal_title：Pharmacogenetics and genomics

authors： Haberl M,Anwald B,Klein K,Weil R,Fuss C,Gepdiremen A,Zanger UM,Meyer UA,Wojnowski L

更新日期：2005-09-01 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：OBJECTIVE:Exemestane is a third-generation aromatase inhibitor used in the treatment of breast cancer in postmenopausal women. Reduction to form 17-dihydroexemestane and subsequent glucuronidation to exemestane-17-O-glucuronide is a major pathway for exemestane metabolism. The goal of this study was to analyze 17-dihyd...

journal_title：Pharmacogenetics and genomics

authors： Sun D,Chen G,Dellinger RW,Sharma AK,Lazarus P

更新日期：2010-10-01 00:00:00

abstract：OBJECTIVES:Nine different functional UGT1A enzymes are generated from a single UGT1A gene by alternative splicing, with each enzyme having a unique exon 1. SN-38, the active metabolite of the anticancer agent irinotecan, is metabolized by both UGT1A1 and UGT1A9. We aim to characterize the UGT1A9-UGT1A1 haplotypes in As...

journal_title：Pharmacogenetics and genomics

authors： Innocenti F,Liu W,Chen P,Desai AA,Das S,Ratain MJ

更新日期：2005-05-01 00:00:00

abstract：INTRODUCTION:Efavirenz is primarily metabolized by CYP2B6, with a minor contribution from CYP1A2, CYP2A6, CYP3A4 and CYP3A5. Genetic variability in these genes contributes towards differences in plasma efavirenz concentration, which ultimately leads to either development of adverse drug events or emergence of virus res...

journal_title：Pharmacogenetics and genomics

authors： Swart M,Skelton M,Ren Y,Smith P,Takuva S,Dandara C

更新日期：2013-08-01 00:00:00

abstract：:Genotyping N-acetyltransferase 2 (NAT2) is of high relevance for individualized dosing of antituberculosis drugs and bladder cancer epidemiology. In this study we compared a recently published tagging single nucleotide polymorphism (SNP) (rs1495741) to the conventional 7-SNP genotype (G191A, C282T, T341C, C481T, G590A...

journal_title：Pharmacogenetics and genomics

authors： Selinski S,Blaszkewicz M,Lehmann ML,Ovsiannikov D,Moormann O,Guballa C,Kress A,Truss MC,Gerullis H,Otto T,Barski D,Niegisch G,Albers P,Frees S,Brenner W,Thüroff JW,Angeli-Greaves M,Seidel T,Roth G,Dietrich H,Ebbin

更新日期：2011-10-01 00:00:00

abstract：OBJECTIVES:To determine whether functional polymorphisms of glutathione S-transferase μ type 1 (GSTM1) and aldehyde dehydrogenase-2 (ALDH2) affect the isosorbide 5-mononitrate (IS-5-MN) response, and the role of the calcitonin gene-related peptide (CGRP) in IS-5-MN response in healthy volunteers. METHODS:A two-phase, ...

journal_title：Pharmacogenetics and genomics

authors： Guo R,Chen L,Li L,Guo X,Sun J,Xiong XM,Cheng ZN,Li YJ,Chen XP

更新日期：2011-03-01 00:00:00

abstract：:Genome-wide studies have identified single nucleotide polymorphisms associated with smoking behaviour and nicotine dependence. Less is known about genetic determinants of smoking cessation, but rs4680 in COMT has recently been shown to explain a substantial proportion of the variation in cessation in the general popul...

journal_title：Pharmacogenetics and genomics

authors： Breitling LP,Dahmen N,Illig T,Rujescu D,Nitz B,Raum E,Winterer G,Rothenbacher D,Brenner H

更新日期：2009-08-01 00:00:00

abstract：OBJECTIVES:The objective of this study was to examine the relationship between renin-angiotensin system genotypes and the pharmacogenetics of angiotensin-converting enzyme (ACE) inhibitors in Chinese patients with coronary artery disease (CAD). METHODS:Patients with angiographic CAD were recruited from 1995 to 2003. T...

journal_title：Pharmacogenetics and genomics

authors： Lee JK,Wu CK,Tsai CT,Lin LY,Lin JW,Chien KL,Hwang JJ,Lin CL,Tseng CD,Chiang FT

更新日期：2013-04-01 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