Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds.

abstract：BACKGROUND AND OBJECTIVES:Quetiapine is an atypical antipsychotic drug used to treat schizophrenia and acute episodes of mania. Quetiapine is metabolized by CYP3A enzymes including CYP3A5 and is a substrate of P-glycoprotein, an efflux drug transporter encoded by the ABCB1 gene. We assessed the effects of ABCB1 [c.1236...

journal_title：Pharmacogenetics and genomics

authors： Kim KA,Joo HJ,Lee HM,Park JY

更新日期：2014-01-01 00:00:00

abstract：:Small heterodimer partner 1 (SHP1, NR0B2) is a member of the superfamily of nuclear receptors (NRs). Even if this orphan receptor, unlike other NRs, lacks the DNA-binding domain, it is capable of regulating transcription by repressing the activity of other NRs by direct protein-protein interaction. Accordingly, SHP1 i...

journal_title：Pharmacogenetics and genomics

authors： Prestin K,Olbert M,Hussner J,Völzke H,Meyer Zu Schwabedissen HE

更新日期：2017-11-01 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：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：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：: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: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：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:To determine whether polymorphisms in the sulfonamide detoxification genes, CYB5A (encoding cytochrome b(5)), CYB5R3 (encoding cytochrome b(5) reductase), or NAT2 (encoding N-acetyltransferase 2) were over-represented in patients with delayed sulfonamide drug hypersensitivity, compared with control patients w...

journal_title：Pharmacogenetics and genomics

authors： Sacco JC,Abouraya M,Motsinger-Reif A,Yale SH,McCarty CA,Trepanier LA

更新日期：2012-10-01 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：: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：: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:To test the hypothesis that the two nonsynonymous single nucleotide polymorphisms at the CB2 cannabinoid receptor gene may have functional consequences on human CB2. METHODS:Q63R, H316Y, and Q63R/H316 mutations were made in recombinant human CB2 by the method of site-directed mutagenesis. After these mutant ...

journal_title：Pharmacogenetics and genomics

authors： Carrasquer A,Nebane NM,Williams WM,Song ZH

更新日期：2010-03-01 00:00:00

abstract：OBJECTIVE:The immunosuppressive drug tacrolimus requires strict therapeutic monitoring due to its narrow therapeutic index and great inter-individual variability. Cytochrome P450 3A4 (Cyp3A4) and Cyp3A5 are the most important contributors to tacrolimus metabolism while the P-glycoprotein pump (MDR-1) modulates its bioa...

journal_title：Pharmacogenetics and genomics

authors： Roy JN,Barama A,Poirier C,Vinet B,Roger M

更新日期：2006-09-01 00:00:00

abstract：INTRODUCTION:Elevated plasma homocysteine (Hcy) concentration is an independent risk factor for cardiovascular disease, and its involvement in endothelial cell dysfunction is well established. However, the role of Hcy and folate in the pathogenesis of Parkinson's disease (PD) remains controversial. OBJECTIVES:The stud...

journal_title：Pharmacogenetics and genomics

authors： Białecka M,Kurzawski M,Roszmann A,Robowski P,Sitek EJ,Honczarenko K,Gorzkowska A,Budrewicz S,Mak M,Jarosz M,Gołąb-Janowska M,Koziorowska-Gawron E,Droździk M,Sławek J

更新日期：2012-10-01 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：OBJECTIVE:We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to determine possible genotype-phenotype correlations. PATIENTS AND METHODS:Genomic DNA from 1...

journal_title：Pharmacogenetics and genomics

authors： Colleoni L,Galbardi B,Barzago C,Bonanno S,Franzi S,Frangiamore R,Camera G,Foti M,Biancolini D,Canioni E,Maggi L,Antozzi C,Mantegazza R,Bernasconi P,Kapetis D

更新日期：2017-02-01 00:00:00

abstract：OBJECTIVES:Epidemiological studies documented associations between single nucleotide polymorphisms (SNPs) in the nucleotide excision repair gene XPD/ERCC2 and cancer risk. Little is known, however, about the underlying mechanisms for these associations. We explored a novel mechanism that could further explain the repor...

journal_title：Pharmacogenetics and genomics

authors： Wolfe KJ,Wickliffe JK,Hill CE,Paolini M,Ammenheuser MM,Abdel-Rahman SZ

更新日期：2007-11-01 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：: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：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: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: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: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:Niacin has been used for seven decades to modulate plasma lipids, but its mechanism of action is still unclear. We sought to determine whether variants in the niacin receptor gene, hydroxyl-carboxylic receptor 2 (HCAR2), are associated with lipid response to treatment. PARTICIPANTS AND METHODS:Coding variant...

journal_title：Pharmacogenetics and genomics

authors： Tuteja S,Wang L,Dunbar RL,Chen J,DerOhannessian S,Marcovina SM,Elam M,Lader E,Rader DJ

更新日期：2017-08-01 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：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：: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：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：BACKGROUND:Although several studies have shown that drug metabolizing enzyme gene polymorphisms may influence the impact of therapy in childhood leukemia, no comprehensive investigations have been carried out in children with neuroblastoma. The aim of this study was to identify polymorphisms in the genes encoding phase...

journal_title：Pharmacogenetics and genomics

authors： Ashton LJ,Murray JE,Haber M,Marshall GM,Ashley DM,Norris MD

更新日期：2007-09-01 00:00:00