Deciphering ADME genetic data using an automated haplotype approach.

abstract：:Clozapine is the drug of choice for treatment-resistant schizophrenia. However, its use is associated with variable clinical responses and serious adverse effects. Polymorphisms in genes encoding proteins involved in synaptic neurotransmission may account for such variability. Here, we studied independent and epistati...

journal_title：Pharmacogenetics and genomics

authors： Rajagopal VM,Rajkumar AP,Jacob KS,Jacob M

更新日期：2018-01-01 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

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：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：:Rapid development in the annotation of human genetic variation has increased the numbers of single nucleotide polymorphisms (SNPs) in candidate genes by several orders of magnitude. The selection of both useful target SNPs for disease-gene association studies and SNPs associated with the treatment response is therefor...

journal_title：Pharmacogenetics and genomics

authors： Edvardsen H,Irene Grenaker Alnaes G,Tsalenko A,Mulcahy T,Yuryev A,Lindersson M,Lien S,Omholt S,Syvänen AC,Børresen-Dale AL,Kristensen VN

更新日期：2006-03-01 00:00:00

abstract：OBJECTIVES:We have earlier shown that diet and xenobiotic metabolizing enzyme genotypes influence colorectal cancer risk, and now investigate whether similar associations are seen in patients with premalignant colorectal adenomas (CRA), recruited during the pilot phase of the Scottish Bowel Screening Programme. METHOD...

journal_title：Pharmacogenetics and genomics

authors： Northwood EL,Elliott F,Forman D,Barrett JH,Wilkie MJ,Carey FA,Steele RJ,Wolf R,Bishop T,Smith G

更新日期：2010-05-01 00:00:00

abstract：OBJECTIVE:To advance our understanding of disease biology, the characterization of the molecular target for clinically proven or new drugs is very important. Because of its simplicity and the availability of strains with individual deletions in all of its genes, chemogenomic profiling in yeast has been used to identify...

journal_title：Pharmacogenetics and genomics

authors： Wu M,Zheng M,Zhang W,Suresh S,Schlecht U,Fitch WL,Aronova S,Baumann S,Davis R,St Onge R,Dill DL,Peltz G

更新日期：2012-12-01 00:00:00

abstract：OBJECTIVE:Alcohol is detoxified in the liver by oxidizing enzymes that require nicotinamide adenine dinucleotide (NAD+) such that, in the rat, the availability of NAD+ contributes to control voluntary ethanol intake. The UChA and UChB lines of Wistar rats drink low and high amounts of ethanol respectively and differ in...

journal_title：Pharmacogenetics and genomics

authors： Sapag A,González-Martínez G,Lobos-González L,Encina G,Tampier L,Israel Y,Quintanilla ME

更新日期：2009-07-01 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:5-Hydroxytryptamine 3 (5-HT3) receptors mediate the fast excitatory neurotransmission of serotonin. In this study, we have characterized the effects of four naturally occurring, nonsynonymous variants of the human 5-HT3B subunit on expression and signalling properties of heteromeric 5-HT3AB receptors. METHO...

journal_title：Pharmacogenetics and genomics

authors： Krzywkowski K,Davies PA,Irving AJ,Bräuner-Osborne H,Jensen AA

更新日期：2008-12-01 00:00:00

abstract：:The genetically polymorphic cytochrome P450 2C9 (CYP2C9) metabolizes many important drugs. Among them, phenytoin has been used as a probe to determine CYP2C9 phenotype by measuring the urinary excretion of its major metabolite, S-enantiomer of 5-(4-hydroxyphenyl)-5-phenylhydantoin (p-HPPH). Phenytoin pharmacokinetic i...

journal_title：Pharmacogenetics and genomics

authors： Allabi AC,Gala JL,Horsmans Y

更新日期：2005-11-01 00:00:00

abstract：BACKGROUND:P-glycoprotein (P-gp) is a multidrug efflux transporter that has a defined role in the absorption and disposition of drugs. Many studies have investigated the potential influence of ABCB1 polymorphisms on the disposition of its substrates. However, there remains significant controversy regarding the role of ...

journal_title：Pharmacogenetics and genomics

authors： Dickens D,Owen A,Alfirevic A,Pirmohamed M

更新日期：2013-06-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate whether there is a genotype-by-treatment interaction in patients experiencing stroke and treated with one of three antihypertensive drugs, that is chlorthalidone, amlodipine, or lisinopril. PARTICIPANTS AND METHODS:A population of 436 African Americans and 539 whites ...

journal_title：Pharmacogenetics and genomics

authors： Sørensen IF,Vazquez AI,Irvin MR,Sørensen P,Davis BR,Ford CE,Boerwinkle E,Eckfeldt JH,Arnett DK

更新日期：2014-11-01 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：: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：: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：PURPOSE:Polymorphisms in genes encoding subunits of heterotrimeric G proteins have been repeatedly associated with various cancers. As G beta gamma signaling is presumed to be involved in proliferation and invasion processes, we analyzed genetic variations in regulatory regions of GNB4, which encodes the G beta 4 subun...

journal_title：Pharmacogenetics and genomics

authors： Riemann K,Struwe H,Eisenhardt A,Obermaier B,Schmid KW,Siffert W

更新日期：2008-11-01 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:To describe the usage patterns of antidepressants with published CYP2D6- and CYP2C19-based prescribing guidelines among depressed primary care patients and estimate the proportion of patients taking antidepressants not recommended for them based on their CYP2C19 and CYP2D6 genotype-predicted metabolizer statu...

journal_title：Pharmacogenetics and genomics

authors： Jessel CD,Mostafa S,Potiriadis M,Everall IP,Gunn JM,Bousman CA

更新日期：2020-09-01 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：:We recently showed an association between the FCGR3A V/F polymorphism and the biological response [assessed on the basis of a C-reactive protein (CRP) concentration decrease] to infliximab in Crohn's disease. The CRP and FCGR3A genes are located on the same 1q23 locus. The present study aimed: (i) to exclude a linkage...

journal_title：Pharmacogenetics and genomics

authors： Willot S,Vermeire S,Ohresser M,Rutgeerts P,Paintaud G,Belaiche J,De Vos M,Van Gossum A,Franchimont D,Colombel JF,Watier H,Louis E

更新日期：2006-01-01 00:00:00

abstract：OBJECTIVE:Studies found a strong association between allopurinol-induced Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) and the HLA-B*58:01 allele. HLA-B*58:01 screening-guided therapy may mitigate the risk of allopurinol-induced SJS/TEN. This study aimed to evaluate the cost-effectiveness of HLA-B*58:...

journal_title：Pharmacogenetics and genomics

authors： Chong HY,Lim YH,Prawjaeng J,Tassaneeyakul W,Mohamed Z,Chaiyakunapruk N

更新日期：2018-02-01 00:00:00

abstract：:CYP2J2 and CYP2C8 metabolize arachidonic acid (AA) to cis-epoxyeicosatrienoic acids (EETs), which play a central role in regulating renal tubular fluid-electrolyte transport and vascular tone. We hypothesized that functionally relevant polymorphisms in the CYP2J2 or CYP2C8 genes influence hypertension risk. We examine...

journal_title：Pharmacogenetics and genomics

authors： King LM,Gainer JV,David GL,Dai D,Goldstein JA,Brown NJ,Zeldin DC

更新日期：2005-01-01 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 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: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：OBJECTIVES:The emergency department (ED) is a challenging setting to conduct pharmacogenomic studies and integrate that data into fast-paced and potentially life-saving treatment decisions. Therefore, our objective is to present the methods and feasibility of a pilot pharmacogenomic study set in the ED that measured pe...

journal_title：Pharmacogenetics and genomics

authors： Fishe JN,Higley RK,Casey D,Hogans L,Wylie TW,Hendry PL,Henson M,Bertrand A,Blake KV

更新日期：2020-12-01 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：AIM:A finite number of variants in the OPRM1, COMT, MC1R, ABCB1 and CYP2D6 genes has been identified to significantly modulate the effects of opioids in controlled homogenous settings. We analyzed the imprint of these variants in opioid therapy in a highly variable cohort of pain patients treated in outpatient units to...

journal_title：Pharmacogenetics and genomics

authors： Lötsch J,von Hentig N,Freynhagen R,Griessinger N,Zimmermann M,Doehring A,Rohrbacher M,Sittl R,Geisslinger G

更新日期：2009-06-01 00:00:00

abstract：OBJECTIVE:Maldescended testes are the most common genital anomaly in newborns and are associated with testicular malignancy and infertility. As the inguinoscrotal phase of testis descent is androgen-dependent and requires integrity of the luteinizing hormone/chorionic gonadotropin receptor (LHCGR), we investigated whet...

journal_title：Pharmacogenetics and genomics

authors： Simoni M,Tüttelmann F,Michel C,Böckenfeld Y,Nieschlag E,Gromoll J

更新日期：2008-03-01 00:00:00