Epilepsy pharmacogenetics.

Abstract:

:Large interindividual variation in efficacy and adverse effects of anti-epileptic therapy presents opportunities and challenges in pharmacogenomics. Although the first true association of genetic polymorphism in drug-metabolizing enzymes with anti-epileptic drug dose was reported 10 years ago, most of the findings have had little impact on clinical practice so far. Most studies performed to date examined candidate genes and were focused on candidate gene selection. Genome-wide association and whole-genome sequencing technologies empower hypothesis-free comprehensive screening of genetic variation across the genome and now the main challenge remaining is to select and study clinically relevant phenotypes suitable for genetic studies. Here we review the current state of epilepsy pharmacogenetics focusing on phenotyping questions and discuss what characteristics we need to study to get answers.

journal_name

Pharmacogenomics

journal_title

Pharmacogenomics

authors

Kasperaviciūte D,Sisodiya SM

doi

10.2217/pgs.09.34

subject

Has Abstract

pub_date

2009-05-01 00:00:00

pages

817-36

issue

5

eissn

1462-2416

issn

1744-8042

journal_volume

10

pub_type

杂志文章,评审
  • Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients.

    abstract:AIM:Hemoglobinopathies exhibit a remarkable phenotypic diversity that restricts any safe association between molecular pathology and clinical outcomes. PATIENTS & METHODS:Herein, we explored the role of genes involved in the nitric oxide biosynthesis and signaling pathway, implicated in the increase of fetal hemoglobi...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.16.1

    authors: Chalikiopoulou C,Tavianatou AG,Sgourou A,Kourakli A,Kelepouri D,Chrysanthakopoulou M,Kanelaki VK,Mourdoukoutas E,Siamoglou S,John A,Symeonidis A,Ali BR,Katsila T,Papachatzopoulou A,Patrinos GP

    更新日期:2016-03-01 00:00:00

  • Discovery Partners International.

    abstract::Discovery Partners International (Nasdaq: DPII) is a leader in collaborative drug discovery. DPI's integrated discovery framework encompasses a broad spectrum of capabilities in chemistry, biology, informatics, computational modeling and synthesis automation. DPI's approach to drug discovery places a heavy emphasis on...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.1517/14622416.3.1.145

    authors: Herd C

    更新日期:2002-01-01 00:00:00

  • Association between CYP2D6 genotypes and the clinical outcomes of adjuvant tamoxifen for breast cancer: a meta-analysis.

    abstract:AIM:Tamoxifen is one of the most commonly used endocrine therapeutic agents for breast cancer. Although many studies have examined whether the treatment outcomes of tamoxifen for breast cancer differ according to CYP2D6 genotype, the study results have been inconsistent, and the role of CYP2D6 in the prediction of pati...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,meta分析

    doi:10.2217/pgs.13.221

    authors: Jung JA,Lim HS

    更新日期:2014-01-01 00:00:00

  • Functional characterization of CYP2D7 gene variants.

    abstract::The ultrarapid CYP2D6 metabolizer (UM) phenotype is caused by CYP2D6 gene duplications in some, but not all, UM individuals. CYP2D6 and the adjacent pseudogene CYP2D7 are highly homologous; however, CYP2D7 harbors a premature stop codon, which is absent in carriers of the rare CYP2D7 variant rs530303678. We addressed ...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs-2018-0065

    authors: Jukic MM,Lauschke VM,Saito T,Hiratsuka M,Ingelman-Sundberg M

    更新日期:2018-08-01 00:00:00

  • Carvedilol pharmacokinetics and pharmacodynamics in relation to CYP2D6 and ADRB pharmacogenetics.

    abstract:AIMS:Carvedilol is an effective treatment in hypertension and chronic heart failure. The medical impact of polymorphisms in CYP2D6 and in the β-adrenergic receptors ADRB1 and ADRB2 on the pharmacokinetics and pharmacodynamics of carvedilol is controversial. METHODS:After carvedilol 25 mg was administered to 110 volunt...

    journal_title:Pharmacogenomics

    pub_type: 临床试验,杂志文章

    doi:10.2217/pgs.11.20

    authors: Sehrt D,Meineke I,Tzvetkov M,Gültepe S,Brockmöller J

    更新日期:2011-06-01 00:00:00

  • Serum lactate dehydrogenase levels and glycolysis significantly correlate with tumor VEGFA and VEGFR expression in metastatic CRC patients.

    abstract:OBJECTIVES:In an attempt to elucidate the relationship between biomarkers of tumor hypoxia, glycolysis and angiogenesis, we tested the hypothesis that intratumoral gene expression of the hypoxia response (hypoxia inducible factor [HIF1 alpha and 2 alpha]), glycolysis (lactate dehydrogenase A [LDHA]), glucose metabolism...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/14622416.8.12.1705

    authors: Azuma M,Shi M,Danenberg KD,Gardner H,Barrett C,Jacques CJ,Sherod A,Iqbal S,El-Khoueiry A,Yang D,Zhang W,Danenberg PV,Lenz HJ

    更新日期:2007-12-01 00:00:00

  • Gene expression profile analysis: an emerging approach to investigate mechanisms of genotoxicity.

    abstract::The response to stress triggers transcriptional activation of genes involved in cell survival and/or cell death. Thus, the monitoring of gene expression levels in large gene sets or whole genomes in response to various agents (toxicogenomics) has been proposed as a tool for investigating mechanisms of toxicity. Althou...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.1517/14622416.6.4.419

    authors: Aubrecht J,Caba E

    更新日期:2005-06-01 00:00:00

  • CYP3A5*3 and CYP2C8*3 variants influence exposure and clinical outcomes of tacrolimus-based therapy.

    abstract::Aim: The influence of variants in pharmacokinetics-related genes on long-term exposure to tacrolimus (TAC)-based therapy and clinical outcomes was investigated. Patients & methods: Brazilian kidney recipients were treated with TAC combined with everolimus (n = 178) or mycophenolate sodium (n = 97). The variants in CYP...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs-2019-0120

    authors: Genvigir FDV,Campos-Salazar AB,Felipe CR,Tedesco-Silva H Jr,Medina-Pestana JO,Doi SQ,Cerda A,Hirata MH,Herrero MJ,Aliño SF,Hirata RDC

    更新日期:2020-01-01 00:00:00

  • MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine.

    abstract::Referred to as the micromanagers of gene expression, microRNAs (miRNAs) are evolutionarily conserved small noncoding RNAs. Polymorphisms in the miRNA pathway (miR-polymorphisms) are emerging as powerful tools to study the biology of a disease and have the potential to be used in disease prognosis and diagnosis. Detect...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.2217/14622416.10.3.399

    authors: Mishra PJ,Bertino JR

    更新日期:2009-03-01 00:00:00

  • Pharmacogenetics in clinical practice: how far have we come and where are we going?

    abstract::Recent years have seen great advances in our understanding of genetic contributors to drug response. Drug discovery and development around targeted genetic (somatic) mutations has led to a number of new drugs with genetic indications, particularly for the treatment of cancers. Our knowledge of genetic contributors to ...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.13.52

    authors: Johnson JA

    更新日期:2013-05-01 00:00:00

  • Preoperative survivin mRNA detection in peripheral blood is an independent predictor of outcome in esophageal carcinoma.

    abstract:AIMS:Survivin (SVV) mRNA expression levels in peripheral blood of patients with gastrointestinal malignancies change significantly during the course of treatment. We wanted to scrutinize these findings in patients with esophageal carcinoma and furthermore evaluate whether the detection of mRNA and the change in detecti...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.09.164

    authors: Hoffmann AC,Vallböhmer D,Grimminger P,Metzger R,Prenzel KL,Hoelscher AH,Brabender J

    更新日期:2010-03-01 00:00:00

  • Genotype-guided dosing of coumarin derivatives: the European pharmacogenetics of anticoagulant therapy (EU-PACT) trial design.

    abstract::The narrow therapeutic range and wide interpatient variability in dose requirement make anticoagulation response to coumarin derivatives unpredictable. As a result, patients require frequent monitoring to avert adverse effects and maintain therapeutic efficacy. Polymorphisms in VKORC1 and CYP2C9 jointly account for ab...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.2217/pgs.09.125

    authors: van Schie RM,Wadelius MI,Kamali F,Daly AK,Manolopoulos VG,de Boer A,Barallon R,Verhoef TI,Kirchheiner J,Haschke-Becher E,Briz M,Rosendaal FR,Redekop WK,Pirmohamed M,Maitland van der Zee AH

    更新日期:2009-10-01 00:00:00

  • Case report: severe toxicity in an African-American patient receiving FOLFOX carrying uncommon allelic variants in DPYD.

    abstract::Cancers of the colon are commonly treated with fluoropyrimidines, which often cause severe toxicities in patients with certain variants in DPYD. Y186C (rs115232898) and a variant in the 3' untranslated region (rs12132152) are uncommon alleles previously observed in African-Americans. An African-American female underwe...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs-2020-0120

    authors: Sissung TM,Cordes L,Peer CJ,Gandhy S,Redman J,Strauss J,Figg WD

    更新日期:2021-01-01 00:00:00

  • Pharmacogenetics of leptin in antipsychotic-associated weight gain and obesity-related complications.

    abstract::Second-generation antipsychotics can greatly improve symptoms of psychosis-spectrum disorders. Unfortunately, these drugs are associated with weight gain, which increases a patient's risk for developing chronic diseases including Type 2 diabetes, cardiovascular diseases or other obesity-related complications. There ar...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.2217/pgs.11.45

    authors: Lee AK,Bishop JR

    更新日期:2011-07-01 00:00:00

  • Murine pharmacogenomics: using the mouse to understand the genetics of drug therapy.

    abstract::Pharmacogenomics seeks to understand the genetic basis of interindividual differences in drug disposition and effects. Differential drug response is likely to most often be a complex trait, in which multiple genes contribute with varying strengths to the therapeutic phenotype. Due to technical and economic limitations...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.1517/14622416.3.6.781

    authors: Watters JW,McLeod HL

    更新日期:2002-11-01 00:00:00

  • Relationship between mRNA expression levels of CYP3A4, CYP3A5 and SXR in peripheral mononuclear blood cells and aging in young kidney transplant recipients under tacrolimus treatment.

    abstract:AIM:The activity of several key enzymes involved in the metabolism of many drugs is subject to change closely related to the age of patients. This possibility must also be considered in the case of tacrolimus, the most important calcineurins inhibitor, which is widely used in pediatric kidney transplantation. As well a...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.15.18

    authors: Ferraresso M,Turolo S,Belingheri M,Tirelli AS,Cortinovis I,Milani S,Edefonti A,Ghio L

    更新日期:2015-01-01 00:00:00

  • Vitamin K epoxide reductase complex 1 (VKORC1) haplotypes in healthy Hungarian and Roma population samples.

    abstract::The aim of this work was to determine the VKORC1 haplotype profile in healthy Hungarian and Roma population samples, and to compare our data with other selected populations. Using haplotype tagging SNPs (G-1639A, G9041A and C6009T), we characterized Hungarian (n = 510) and Roma (n = 451) population samples with regard...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.09.46

    authors: Sipeky C,Csongei V,Jaromi L,Safrany E,Polgar N,Lakner L,Szabo M,Takacs I,Melegh B

    更新日期:2009-06-01 00:00:00

  • Screening CYP3A single nucleotide polymorphisms in a Han Chinese population with a genotyping chip.

    abstract::Human cytochrome P450 (CYP)3A is a major P450 enzyme found in the liver and gastrointestinal tract. It plays an important role in the metabolism of a wide variety of drugs, some endogenous steroids and harmful environmental contaminants. It has been shown that CYP3A alleles encoding enzymes with little or no activity ...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/14622416.6.7.731

    authors: Liu CH,Peck K,Huang JD,Lin MS,Wang CH,Hsu WP,Wang HW,Lee HL,Lai ML

    更新日期:2005-10-01 00:00:00

  • A review of consent practices and perspectives for pharmacogenetic testing.

    abstract:AIM:We aimed to understand consent practices for pharmacogenetic (PGx) testing. METHODS:We conducted a literature review and analysis of consent forms from clinical laboratories offering PGx testing. RESULTS:Our review of the literature shows a lack of consensus about the need for and type of informed consent for PGx...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.2217/pgs-2016-0039

    authors: Haga SB,Mills R

    更新日期:2016-09-01 00:00:00

  • SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.

    abstract:AIM:Approximately a third of newly diagnosed epilepsy patients do not respond to antiepileptic drugs (AEDs). Evidence suggests that low penetrance variants in the genes of drug targets such as voltage-gated sodium channels may be involved in drug responsiveness. To examine this hypothesis, we compared data from two epi...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,meta分析,多中心研究

    doi:10.2217/pgs.13.104

    authors: Haerian BS,Baum L,Kwan P,Tan HJ,Raymond AA,Mohamed Z

    更新日期:2013-07-01 00:00:00

  • The genomic response of skeletal muscle to methylprednisolone using microarrays: tailoring data mining to the structure of the pharmacogenomic time series.

    abstract::High-throughput data collection using gene microarrays has great potential as a method for addressing the pharmacogenomics of complex biological systems. Similarly, mechanism-based pharmacokinetic/pharmacodynamic modeling provides a tool for formulating quantitative testable hypotheses concerning the responses of comp...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.1517/14622416.5.5.525

    authors: Almon RR,DuBois DC,Piel WH,Jusko WJ

    更新日期:2004-07-01 00:00:00

  • High-speed genotyping of CYP1A2*1F mutation with fluorescent hybridization probes using the LightCycler.

    abstract::The polymorphism CYP1A2*1F of the cytochrome 1A2 gene affects the inducibility of this cytochrome, which is involved in the metabolism of many commonly used drugs. We developed a rapid-cycle polymerase chain reaction (PCR) and fluorescent probe melting curve analysis on the LightCycler instrument for identification of...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.1517/phgs.4.5.643.23798

    authors: Popp J,Messner B,Steimer W

    更新日期:2003-09-01 00:00:00

  • Codeine-induced acute generalized exanthematous pustulosis without IL36RN mutations.

    abstract::Recent studies have suggested an association between mutations in the IL-36RN gene and the onset of pustular generalized. In the literature, only one case of acute generalized exanthematous pustulosis (AGEP) induced by codeine in a patient with IL36RN mutation has been reported. Herein, we reported an unusual case of ...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs-2017-0200

    authors: Chadli Z,Ladhari C,Kerkeni E,Djobbi A,Fredj NB,Chaabane A,Boughattas NA,Aouam K

    更新日期:2018-07-01 00:00:00

  • Challenges for molecular profiling of chronic fatigue syndrome.

    abstract::Chronic fatigue syndrome (CFS) is prevalent, disabling and costly. Despite extensive literature describing the epidemiology and clinical aspects of CFS, it has been recalcitrant to diagnostic biomarker discovery and therapeutic intervention. This is due to the fact that CFS is a complex illness defined by self-reporte...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.2217/14622416.7.2.211

    authors: Vernon SD,Whistler T,Aslakson E,Rajeevan M,Reeves WC

    更新日期:2006-03-01 00:00:00

  • Genetic variation in the GCG and in the GLP1R genes and antipsychotic-induced weight gain.

    abstract:AIM:GLP-1 plays a key role in glucose metabolism and influences antipsychotic-induced weight gain (AIWG). Our study is the first to investigate the encoding gene, GCG, and the GLP-1 receptor gene, GLP1R, and association with AIWG. MATERIALS & METHODS:In 216 schizophrenic patients treated with antipsychotics for up to ...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.13.247

    authors: Brandl EJ,Tiwari AK,Chowdhury NI,Zai CC,Lieberman JA,Meltzer HY,Kennedy JL,Müller DJ

    更新日期:2014-03-01 00:00:00

  • Pharmacogenetic considerations with dichloroacetate dosing.

    abstract::The investigational drug dichloroacetate (DCA) is a metabolic regulator that has been successfully used to treat acquired and congenital metabolic diseases and, recently, solid tumors. Its clinical use has revealed challenges in selecting appropriate doses. Chronic administration of DCA leads to inhibition of DCA meta...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.2217/pgs-2015-0012

    authors: James MO,Stacpoole PW

    更新日期:2016-05-01 00:00:00

  • Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study.

    abstract:BACKGROUND:Essential hypertension arises from the combined effect of genetic and environmental factors. A pharmacogenomics approach could help to identify additional molecular mechanisms involved in its pathogenesis. AIM:The aim of SOPHIA study was to identify genetic polymorphisms regulating blood pressure response t...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章

    doi:10.2217/pgs.14.119

    authors: Frau F,Zaninello R,Salvi E,Ortu MF,Braga D,Velayutham D,Argiolas G,Fresu G,Troffa C,Bulla E,Bulla P,Pitzoi S,Piras DA,Glorioso V,Chittani M,Bernini G,Bardini M,Fallo F,Malatino L,Stancanelli B,Regolisti G,Ferri

    更新日期:2014-09-01 00:00:00

  • Association of genetic polymorphisms with response to bevacizumab for neovascular age-related macular degeneration in the Chinese population.

    abstract:AIMS:To determine whether there is an association between CFH, ARMS2, HTRA1, VEGF, SERPING1 or C3 genotypes and patient response to treatment with intravitreal bevacizumab for neovascular age-related macular degeneration (AMD). MATERIALS & METHODS:This was a multicenter prospective study. One hundred and forty four pa...

    journal_title:Pharmacogenomics

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.2217/pgs.12.53

    authors: Tian J,Qin X,Fang K,Chen Q,Hou J,Li J,Yu W,Chen D,Hu Y,Li X

    更新日期:2012-05-01 00:00:00

  • Genomics-based drug design targets the AT-rich malaria parasite: implications for antiparasite chemotherapy.

    abstract::Evaluation of: Woynarowski JM, Krugliak M, Ginsburg H: Pharmacogenomic analyses of targeting the AT-rich malaria parasite genome with AT-specific alkylating drugs. Mol. Biochem. Parasitol. 154(1), 70-81 (2007) [1] . The sequencing of the malaria genome sought to expose the parasite's ability to cause disease and ident...

    journal_title:Pharmacogenomics

    pub_type: 评论,杂志文章

    doi:10.2217/14622416.8.9.1267

    authors: Yanow SK,Purcell LA,Lee M,Spithill TW

    更新日期:2007-09-01 00:00:00

  • Back to the future: why randomized controlled trials cannot be the answer to pharmacogenomics and personalized medicine.

    abstract::Randomized controlled trials are the gold standard for determining the efficacy of therapeutic interventions. However, medical practice has not evolved around the concept of randomized trials, but around the idea of careful observations, (anecdotal) case studies and the evaluation of retrospective data. Interventions ...

    journal_title:Pharmacogenomics

    pub_type: 杂志文章,评审

    doi:10.2217/pgs.09.62

    authors: Frueh FW

    更新日期:2009-07-01 00:00:00