Single nucleotide polymorphisms of the DNA repair gene XPD/ERCC2 alter mRNA expression.

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: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：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：:Fumaric acid esters (FAE) are beneficial in the treatment of psoriasis. However, about a third of psoriasis patients do not respond to FAE. We aimed to determine whether glutathione-S-transferase (GST) M1 and GSTP1 polymorphisms are associated with treatment outcome in psoriasis patients treated with FAE. We studied 8...

journal_title：Pharmacogenetics and genomics

authors： Gambichler T,Susok L,Zankl J,Skrygan M

更新日期：2016-05-01 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：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：OBJECTIVES:Flavin-containing monooxygenase 3 (FMO3) is involved in the metabolism of foreign chemicals, including therapeutic drugs, and thus mediates interactions between humans and their chemical environment. Loss-of-function mutations in the gene cause the inherited disorder trimethylaminuria, or fish-odour syndrome...

journal_title：Pharmacogenetics and genomics

authors： Allerston CK,Shimizu M,Fujieda M,Shephard EA,Yamazaki H,Phillips IR

更新日期：2007-10-01 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：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：: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：:The 1976C>T polymorphism in the adenosine A2A receptor gene (ADORA2A) modulates the psychological response to administration of the adenosine receptor antagonist caffeine. We quantified the vascular response to adenosine and caffeine to determine the relevance of this variant allele in the physiological response to th...

journal_title：Pharmacogenetics and genomics

authors： Riksen NP,Franke B,van den Broek P,Smits P,Rongen GA

更新日期：2007-07-01 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：OBJECTIVES:This study investigated the involvement of ADH4 gene polymorphisms in the susceptibility to alcohol use disorders. METHODS:Thirty-eight single-nucleotide polymorphisms (SNPs) in and around the ADH4 gene were investigated in 136 Italian alcoholics and 276 healthy controls. A new approach based on a bioinform...

journal_title：Pharmacogenetics and genomics

authors： Turchi C,Piva F,Solito G,Principato G,Buscemi L,Tagliabracci A

更新日期：2012-02-01 00:00:00

abstract：OBJECTIVE:We evaluated whether percent time in target range (PTTR), risk of over-anticoagulation [international normalized ratio (INR)>4], and risk of hemorrhage differ by race. As PTTR is a strong predictor of hemorrhage risk, we also determined the influence of PTTR on the risk of hemorrhage by race. PARTICIPANTS AN...

journal_title：Pharmacogenetics and genomics

authors： Limdi NA,Brown TM,Shendre A,Liu N,Hill CE,Beasley TM

更新日期：2017-10-01 00:00:00

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：: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: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: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：OBJECTIVE:Nicotine, the main addictive ingredient in tobacco, is metabolically inactivated to cotinine primarily by the hepatic enzyme CYP2A6. Considerable genetic variation in the CYP2A6 gene results in large variation in the rates of nicotine metabolism, which in turn alters smoking behaviours (e.g. amount of cigaret...

journal_title：Pharmacogenetics and genomics

authors： Piliguian M,Zhu AZ,Zhou Q,Benowitz NL,Ahluwalia JS,Sanderson Cox L,Tyndale RF

更新日期：2014-02-01 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：: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: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：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：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：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：:Heterotrimeric guanine-binding proteins (G proteins) transmit signals from the cell surface to intracellular signal cascades. The β3-subunit encoded by the gene GNB3 is widely expressed and, therefore, involved in various physiological and pathophysiological processes. A C825T polymorphism located in exon 10 of GNB3 w...

journal_title：Pharmacogenetics and genomics

authors： Klenke S,Kussmann M,Siffert W

更新日期：2011-09-01 00:00:00

abstract：:The study aimed to investigate whether polymorphisms in genes of the EGFR signaling pathway are associated with clinical outcome in advanced colorectal cancer (CRC) patients treated with single-agent Cetuximab. Polymorphisms of interest in the EGFR pathway include: cyclin D1 (CCND1) A870G, cyclooxygenase 2 (Cox-2) G-7...

journal_title：Pharmacogenetics and genomics

authors： Zhang W,Gordon M,Press OA,Rhodes K,Vallböhmer D,Yang DY,Park D,Fazzone W,Schultheis A,Sherrod AE,Iqbal S,Groshen S,Lenz HJ

更新日期：2006-07-01 00:00:00

abstract：:Aberrations in ubiquitin pathway have been implicated in many diseases and drug response. In a previous study on rheumatoid arthritis (RA) in Japanese population, significant association of Cullin1 gene (CUL1), an ubiquitin E3 ligase, was observed. CUL1 also mediates degradation of IκBα and p27, levels of which has be...

journal_title：Pharmacogenetics and genomics

authors： Negi S,Kumar A,Thelma BK,Juyal RC

更新日期：2011-09-01 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 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