Catecholamine pathway gene variation is associated with norepinephrine and epinephrine concentrations at rest and after exercise.

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：OBJECTIVE:To assess the impact of CYP2C9 variation on phenytoin patient response and clinician prescribing practice where genotype was unknown during treatment. METHODS:A retrospective analysis of Resource on Genetic Epidemiology Research on Adult Health and Aging cohort participants who filled a phenytoin prescriptio...

journal_title：Pharmacogenetics and genomics

authors： Fohner AE,Ranatunga DK,Thai KK,Lawson BL,Risch N,Oni-Orisan A,Jelalian AT,Rettie AE,Liu VX,Schaefer CA

更新日期：2019-10-01 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：: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：BACKGROUND:Gene expression is regulated by trans-acting transcription factors and microRNAs (miRNAs) through interactions with their respective cis-regulatory elements. The effects that drugs induce result from complex interactions in pathways downstream from their primary targets. These interactions, from gene regulat...

journal_title：Pharmacogenetics and genomics

authors： Arora A

更新日期：2015-03-01 00:00:00

abstract：:Endocrine disrupters, such as persistent organohalogen pollutants (POPs) may cause hypospadias, which is a common congenital anomaly in males, affecting 0.2-0.7%. We hypothesized that hypospadias incidence would be high among Greenlanders, who are one of the most POP exposed populations on earth through consumption of...

journal_title：Pharmacogenetics and genomics

authors： Giwercman YL,Kleist KE,Giwercman A,Giwercman C,Toft G,Bonde JP,Pedersen HS

更新日期：2006-05-01 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：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：BACKGROUND:Previous studies have shown that polymorphisms in the β2-adrenergic receptor gene (ADRB2) may influence bronchodilator response (BDR) to both β2-agonists and anticholinergics, possibly by intracellular cross-talk, but in opposite ways, in the Japanese population. We hypothesized that the preferential respons...

journal_title：Pharmacogenetics and genomics

authors： Konno S,Makita H,Hasegawa M,Nasuhara Y,Nagai K,Betsuyaku T,Hizawa N,Nishimura M

更新日期：2011-11-01 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：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: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：: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：OBJECTIVE:Glutathione S-transferase enzymes (GSTs; EC: 2.5.1.18) constitute the principal phase II superfamily, which plays a key role in cellular detoxification. GST genes are organized in chromosomal clusters; most of these genes are polymorphic, mainly due to single nucleotide substitutions. Different studies proved...

journal_title：Pharmacogenetics and genomics

authors： Polimanti R,Piacentini S,Fuciarelli M

更新日期：2011-10-01 00:00:00

abstract：OBJECTIVES:To analyze whether gene variants leading to impaired drug metabolism are related with acute gastrointestinal bleeding after nonsteroidal anti-inflammatory drugs (NSAID) use. METHODS:Common CYP2C8 and CYP2C9 polymorphisms were studied in a cross-sectional study, involving 134 NSAID-related bleeding patients ...

journal_title：Pharmacogenetics and genomics

authors： Blanco G,Martínez C,Ladero JM,Garcia-Martin E,Taxonera C,Gamito FG,Diaz-Rubio M,Agundez JA

更新日期：2008-01-01 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：:Genotyping N-acetyltransferase 2 (NAT2) is of high relevance for individualized dosing of antituberculosis drugs and bladder cancer epidemiology. In this study we compared a recently published tagging single nucleotide polymorphism (SNP) (rs1495741) to the conventional 7-SNP genotype (G191A, C282T, T341C, C481T, G590A...

journal_title：Pharmacogenetics and genomics

authors： Selinski S,Blaszkewicz M,Lehmann ML,Ovsiannikov D,Moormann O,Guballa C,Kress A,Truss MC,Gerullis H,Otto T,Barski D,Niegisch G,Albers P,Frees S,Brenner W,Thüroff JW,Angeli-Greaves M,Seidel T,Roth G,Dietrich H,Ebbin

更新日期：2011-10-01 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：OBJECTIVES:Multiple sclerosis (MS) is a neurodegenerative chronic inflammatory. Mutations in the vitamin D receptor (VDR) gene can substantially affect serum vitamin D levels or alter its functionality, and can consequently increase susceptibility to developing MS. The objective of this study was to evaluate the associ...

journal_title：Pharmacogenetics and genomics

authors： Cancela Díez B,Pérez-Ramírez C,Maldonado-Montoro MDM,Carrasco-Campos MI,Sánchez Martín A,Pineda Lancheros LE,Martínez-Martínez F,Calleja-Hernández MÁ,Ramírez-Tortosa MC,Jiménez-Morales A

更新日期：2021-02-01 00:00:00

abstract：OBJECTIVE:Individual differences in drug efficacy and toxicity remain an important clinical concern. We investigated copy number variation (CNV) frequencies for pharmacogenes using The Cancer Genome Atlas dataset. MATERIALS AND METHODS:One hundred and fifty-two pharmacogenes were selected from liver hepatocellular car...

journal_title：Pharmacogenetics and genomics

authors： Kim IW,Han N,Kim MG,Kim T,Oh JM

更新日期：2015-01-01 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：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：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：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: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：OBJECTIVES:A total of 2402 patients with arsenic-related skin lesions, such as hyperkeratosis, hyperpigmentation or hypopigmentation, or even skin cancer in a few villages in Southwest Guizhou Autonomous Prefecture, China represent a unique case of endemic arsenism related with indoor combustion of high arsenic coal. T...

journal_title：Pharmacogenetics and genomics

authors： Lin GF,Du H,Chen JG,Lu HC,Guo WC,Meng H,Zhang TB,Zhang XJ,Lu DR,Golka K,Shen JH

更新日期：2006-12-01 00:00:00

abstract：BACKGROUND:HIV infection has been associated with dyslipidemia, insulin resistance, and changes in body composition, including loss of subcutaneous fat and skeletal muscle, with relative sparing of upper trunk and visceral fat. Because of its resemblance to Cushing's syndrome, caused by glucocorticoid excess, we hypoth...

journal_title：Pharmacogenetics and genomics

authors： Manenschijn L,Scherzer R,Koper JW,Danoff A,van Rossum EF,Grunfeld C

更新日期：2014-03-01 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：OBJECTIVES:Among serotonin (5-HT) receptors, the 5-HT3 receptor is the only ligand-gated ion channel. 5-HT3 antagonists such as ondansetron and tropisetron may improve auditory gating and neurocognitive deficits in schizophrenic patients. Moreover, many antipsychotic drugs are antagonists at 5-HT3 receptors. However, t...

journal_title：Pharmacogenetics and genomics

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

更新日期：2009-11-01 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