Evaluation of polymorphisms in the sulfonamide detoxification genes NAT2, CYB5A, and CYB5R3 in patients with sulfonamide hypersensitivity.

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：: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：OBJECTIVE:A meta-analysis was carried out of published studies on the effect of the CYP3A5 6986A>G polymorphism in liver donors and transplant recipients on tacrolimus pharmacokinetics. METHODS:Cohort studies that evaluated the relationship between the CYP3A5 polymorphism in liver donors and transplant recipients and ...

journal_title：Pharmacogenetics and genomics

authors： Rojas LE,Herrero MJ,Bosó V,García-Eliz M,Poveda JL,Librero J,Aliño SF

更新日期：2013-10-01 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: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：OBJECTIVES:Numerous functional polymorphisms in the CYP2C19 gene have been identified; some alleles (e.g. CYP2C19*2 and CYP2C19*3) are associated with poor metabolism of CYP2C19 substrate drugs. Studies have found that the proportion of poor metabolizers, explained by CYP2C19*2 and CYP2C19*3, varies from less than 50% ...

journal_title：Pharmacogenetics and genomics

authors： Nakamoto K,Kidd JR,Jenison RD,Klaassen CD,Wan YJ,Kidd KK,Zhong XB

更新日期：2007-02-01 00:00:00

abstract：OBJECTIVES:It has been shown that acetaldehyde is an active metabolite of ethanol with central actions that modulate behavior. Catalase has been proposed as the main enzyme responsible for the synthesis of acetaldehyde from ethanol in the brain. Recent studies, however, suggest that cytochrome, in particular the isofor...

journal_title：Pharmacogenetics and genomics

authors： Correa M,Viaggi C,Escrig MA,Pascual M,Guerri C,Vaglini F,Aragon CM,Corsini GU

更新日期：2009-03-01 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：OBJECTIVE:We investigated whether the UGT1A3 polymorphisms play an important role in interindividual variations in atorvastatin lactonization and lipid-lowering effect. METHODS:Twenty-three healthy volunteers were administered atorvastatin 20 mg once daily for 14 days. Serum levels of lipids were measured before and 7...

journal_title：Pharmacogenetics and genomics

authors： Cho SK,Oh ES,Park K,Park MS,Chung JY

更新日期：2012-08-01 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：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：OBJECTIVE:To investigate the utility of statistical tools in translating Affymetrix Drug Metabolizing Enzyme and Transporter (DMET) Assay single-nucleotide polymorphisms (SNPs) into common consensus star alleles. METHODS:DMET SNP data from clinical trials in different ethnicities were pooled for analyses. Three differ...

journal_title：Pharmacogenetics and genomics

authors： Guo Y,Farmen MW,Jin Y,Lee HY,Penny MA,Hillgren KM,Fossceco SL

更新日期：2014-06-01 00:00:00

abstract：AIM/OBJECTIVES/BACKGROUND:Hypertension is a risk factor for cardiovascular and kidney disease and is most prevalent in African-American adults. The renin-angiotensin-aldosterone system is integral in blood pressure regulation; angiotensin-converting enzyme inhibitors such as ramipril are first-line treatment options. A...

journal_title：Pharmacogenetics and genomics

authors： Anthony EG,Richard E,Lipkowitz MS,Bhatnagar V

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:Genetic polymorphisms are associated with lipid-lowering response to statins, but generalizeability to disease endpoints is unclear. The association between 82 common single nucleotide polymorphisms (SNPs) in six lipid-related or statin-related genes (ABCB1, CETP, HMGCR, LDLR, LIPC, NOS3) and incident nonfata...

journal_title：Pharmacogenetics and genomics

authors： Hindorff LA,Lemaitre RN,Smith NL,Bis JC,Marciante KD,Rice KM,Lumley T,Enquobahrie DA,Li G,Heckbert SR,Psaty BM

更新日期：2008-08-01 00:00:00

abstract：OBJECTIVE:To assess the impact of CYP2C9 variation on phenytoin patient response and clinician prescribing practice where genotype was unknown during treatment. METHODS:A retrospective analysis of Resource on Genetic Epidemiology Research on Adult Health and Aging cohort participants who filled a phenytoin prescriptio...

journal_title：Pharmacogenetics and genomics

authors： Fohner AE,Ranatunga DK,Thai KK,Lawson BL,Risch N,Oni-Orisan A,Jelalian AT,Rettie AE,Liu VX,Schaefer CA

更新日期：2019-10-01 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：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：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：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：OBJECTIVE:Recently, the minor allele of the rs13064411A>G polymorphism in the WD repeat domain 52 (WDR52) gene was associated with increased statin-induced proprotein convertase subtilisin/kexin type 9 (PCSK9) levels and with LDL cholesterol response to statins. PCSK9 promotes LDL receptor degradation, leading to incre...

journal_title：Pharmacogenetics and genomics

authors： de Keyser CE,Becker ML,Hofman A,Lous JJ,Uitterlinden AG,Visser LE,Stricker BH

更新日期：2015-03-01 00:00:00

abstract：OBJECTIVE:The effects of various polymorphisms in cytochrome P450 (CYP) enzyme and transporter genes on the pharmacokinetics (PK) of simvastatin were evaluated in healthy Korean men. METHODS:Plasma concentration data for simvastatin and simvastatin acid were pooled from four phase I studies comprising 133 participants...

journal_title：Pharmacogenetics and genomics

authors： Choi HY,Bae KS,Cho SH,Ghim JL,Choe S,Jung JA,Jin SJ,Kim HS,Lim HS

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVE:Clinical response to topiramate can vary greatly in obese patients. Identifying genetic variants associated with treatment response could help gain insight into the mechanism of action of topiramate. Little is known about the relationship between genetic variability and topiramate treatment response. We perfo...

journal_title：Pharmacogenetics and genomics

authors： Li QS,Lenhard JM,Zhan Y,Konvicka K,Athanasiou MC,Strauss RS,Francke S

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme (ACE) is a zinc metallopeptidase that is implicated in the regulation of blood pressure and cerebral ...

journal_title：Pharmacogenetics and genomics

authors： Dardiotis E,Paterakis K,Siokas V,Tsivgoulis G,Dardioti M,Grigoriadis S,Simeonidou C,Komnos A,Kapsalaki E,Fountas K,Hadjigeorgiou GM

更新日期：2015-10-01 00:00:00

abstract：:In humans, UDP-glucuronosyltransferase 1A9 is known to glucuronidate numerous lipophilic substances of pharmacological and toxicological importance. Although it has been established that individuals vary in their capacity to express this detoxification enzyme, little is known about the mechanisms that dictate the regu...

journal_title：Pharmacogenetics and genomics

authors： Gardner-Stephen DA,Mackenzie PI

更新日期：2007-01-01 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：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：OBJECTIVE:Genome-wide single nucleotide polymorphism (SNP) association studies recently identified two SNPs (rs11833579 and rs12425791) on chromosome 12p13 that are associated with ischemic stroke (IS) in Caucasian or Black persons from America and the Netherlands. Our aim was to determine whether these SNPs were assoc...

journal_title：Pharmacogenetics and genomics

authors： Tong Y,Zhang Y,Zhang R,Geng Y,Lin L,Wang Z,Liu J,Li X,Cao Z,Xu J,Chai Y,Fan H,Hu FB,Lu Z,Cheng J

更新日期：2011-09-01 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: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: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