A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.

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：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 aryl hydrocarbon receptor (AhR) is a key regulator of the transcriptional expression for the cytochrome P450 1 (CYP1) genes. CYP1A2 is one of the major CYP1 enzymes that catalyse 2-hydroxylation of estrogen, a hormone that plays a critical role in the etiology of breast cancer. In this study, we investigated wheth...

journal_title：Pharmacogenetics and genomics

authors： Long JR,Egan KM,Dunning L,Shu XO,Cai Q,Cai H,Dai Q,Holtzman J,Gao YT,Zheng W

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVES:Prolonged activation of the β-1 adrenergic receptor (ADRB1) is associated with receptor desensitization. This process has been suggested to have important pathophysiological and clinical implications in conditions such as congestive heart failure. The contribution of genetic factors to this process is a subj...

journal_title：Pharmacogenetics and genomics

authors： Yogev D,Basheer M,Perlman A,Blotnick S,Caraco Y,Muszkat M

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Co-trimoxazole is a sulfonamide-containing antibiotic that is effective in the treatment of several infections and for prophylaxis of Pneumocystis jiroveci pneumonia. This drug has been reported as a common culprit drug for the Stevens-Johnson syndrome (SJS) and for toxic epidermal necrolysis (TEN). Human le...

journal_title：Pharmacogenetics and genomics

authors： Kongpan T,Mahasirimongkol S,Konyoung P,Kanjanawart S,Chumworathayi P,Wichukchinda N,Kidkeukarun R,Preechakul S,Khunarkornsiri U,Bamrungram W,Supharatwattanakun B,Mootsikapun P,Kwangsukstid S,Denjanta S,Vannaprasaht S,Rungap

更新日期：2015-08-01 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：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：: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：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：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：: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：BACKGROUND:Despite the enormous success of imatinib in chronic myeloid leukemia (CML), therapy resistance has emerged in a significant proportion of patients, partly because of the overexpression of ABC efflux transporters. METHODS:Using an array comprising 667 miRNAs, we investigated whether the expression of microRN...

journal_title：Pharmacogenetics and genomics

authors： Turrini E,Haenisch S,Laechelt S,Diewock T,Bruhn O,Cascorbi I

更新日期：2012-03-01 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：OBJECTIVE:To investigate if polymorphisms of some genes involved in folliculogenesis predict ovarian response. METHODS:This prospective randomized study includes 124 egg donors genotyped for six SNPs ESR1 (rs2234693), AMHR2 (rs2002555), GDF-9 (rs10491279 and rs254286), AMH (rs10407022) and LHCBR (rs229327) genes and f...

journal_title：Pharmacogenetics and genomics

authors： Lledó B,Llácer J,Blanco L,Ortiz JA,Morales R,Fabregat A,Guerrero J,Bernabeu R

更新日期：2019-11-01 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：: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：OBJECTIVE:Irreversible hearing loss is a frequent side effect of the chemotherapeutic agent cisplatin and shows considerable interpatient variability. The variant rs1872328 in the ACYP2 gene was recently identified as a risk factor for the development of cisplatin-induced ototoxicity in children with brain tumors. We a...

journal_title：Pharmacogenetics and genomics

authors： Vos HI,Guchelaar HJ,Gelderblom H,de Bont ES,Kremer LC,Naber AM,Hakobjan MH,van der Graaf WT,Coenen MJ,te Loo DM

更新日期：2016-05-01 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：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：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：:We investigated the effect of the functional insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene on the response to interferon-β (IFN-β) therapy in Croatian and Slovenian patients with multiple sclerosis (MS). A total of 275 IFN-β treated MS patients [162 responders (Rs) and 113 nonre...

journal_title：Pharmacogenetics and genomics

authors： Ristić S,Starčević Čizmarević N,Lavtar P,Lovrečić L,Perković O,Sepčić J,Šega Jazbec S,Kapović M,Peterlin B

更新日期：2017-06-01 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：OBJECTIVES:To evaluate whether ABCC2 gene polymorphisms are associated with expression and/or function of the efflux pump. METHODS:We investigated the allele frequency of ABCC2 -24C>T, -23G>A, c.1249G>A, c.1446C>G, c.1457C>T, c.2302C>T, c.2366C>T, c.3542G>T, c.3561G>A, c.3563T>A, c.3972C>T, c.4348G>A, and 4544G>A in 3...

journal_title：Pharmacogenetics and genomics

authors： Haenisch S,May K,Wegner D,Caliebe A,Cascorbi I,Siegmund W

更新日期：2008-04-01 00:00:00

abstract：:Carboxylesterase 1 (CES1) is implicated in the metabolism of several commonly used drugs and other xenobiotics. The gene encoding this enzyme, CES1, is duplicated in some individuals. The original gene copy is called CES1A1. The duplicated version, CES1A2, is a hybrid of CES1A1 and the CES1-related pseudogene, CES1P1....

journal_title：Pharmacogenetics and genomics

authors： Bjerre D,Rasmussen HB,INDICES Consortium.

更新日期：2017-04-01 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：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：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：:The serotonin (5-HT) 1A receptor has been found to be dysregulated in prefrontal cortex and other brain regions in schizophrenia, and 5-HT1A receptor levels in the amygdala have been related to negative schizophrenia symptoms. We have assessed the impact of the functional C-1019G variant of the 5-HT1A receptor on the ...

journal_title：Pharmacogenetics and genomics

authors： Mössner R,Schuhmacher A,Kühn KU,Cvetanovska G,Rujescu D,Zill P,Quednow BB,Rietschel M,Wölwer W,Gaebel W,Wagner M,Maier W

更新日期：2009-01-01 00:00:00

abstract：:P-glycoprotein, the product of the ABCB1 gene, is a proposed mechanism of pharmacoresistance in epilepsy. Previous attempts to correlate the ABCB1 C3435T SNP, or a three-SNP haplotype containing C3435T with epilepsy pharmacoresistance have produced discordant findings. We analysed these single nucleotide polymorphisms...

journal_title：Pharmacogenetics and genomics

authors： Leschziner GD,Andrew T,Leach JP,Chadwick D,Coffey AJ,Balding DJ,Bentley DR,Pirmohamed M,Johnson MR

更新日期：2007-03-01 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