Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma.

abstract：:We have identified the ATP-binding cassette (ABC) transporter ABCC4 as an active constituent of mediator-storing granules in human platelets. In addition to multidrug resistance protein 4, other ABC-type transport proteins may contribute to platelet secretory function as well as determine intended or adverse effects o...

journal_title：Pharmacogenetics and genomics

authors： Niessen J,Jedlitschky G,Grube M,Kawakami H,Kamiie J,Ohtsuki S,Schwertz H,Bien S,Starke K,Ritter C,Strobel U,Greinacher A,Terasaki T,Kroemer HK

更新日期：2010-06-01 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：OBJECTIVES:We have earlier shown that diet and xenobiotic metabolizing enzyme genotypes influence colorectal cancer risk, and now investigate whether similar associations are seen in patients with premalignant colorectal adenomas (CRA), recruited during the pilot phase of the Scottish Bowel Screening Programme. METHOD...

journal_title：Pharmacogenetics and genomics

authors： Northwood EL,Elliott F,Forman D,Barrett JH,Wilkie MJ,Carey FA,Steele RJ,Wolf R,Bishop T,Smith G

更新日期：2010-05-01 00:00:00

abstract：INTRODUCTION:Efavirenz is primarily metabolized by CYP2B6, with a minor contribution from CYP1A2, CYP2A6, CYP3A4 and CYP3A5. Genetic variability in these genes contributes towards differences in plasma efavirenz concentration, which ultimately leads to either development of adverse drug events or emergence of virus res...

journal_title：Pharmacogenetics and genomics

authors： Swart M,Skelton M,Ren Y,Smith P,Takuva S,Dandara C

更新日期：2013-08-01 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：:Clozapine is the drug of choice for treatment-resistant schizophrenia. However, its use is associated with variable clinical responses and serious adverse effects. Polymorphisms in genes encoding proteins involved in synaptic neurotransmission may account for such variability. Here, we studied independent and epistati...

journal_title：Pharmacogenetics and genomics

authors： Rajagopal VM,Rajkumar AP,Jacob KS,Jacob M

更新日期：2018-01-01 00:00:00

abstract：OBJECTIVE:Genetic polymorphisms are associated with lipid-lowering response to statins, but generalizeability to disease endpoints is unclear. The association between 82 common single nucleotide polymorphisms (SNPs) in six lipid-related or statin-related genes (ABCB1, CETP, HMGCR, LDLR, LIPC, NOS3) and incident nonfata...

journal_title：Pharmacogenetics and genomics

authors： Hindorff LA,Lemaitre RN,Smith NL,Bis JC,Marciante KD,Rice KM,Lumley T,Enquobahrie DA,Li G,Heckbert SR,Psaty BM

更新日期：2008-08-01 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：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：:The existence of genetic polymorphisms in metabolizing enzymes can be regarded as one of the principal causes of interindividual variation in response to drugs and adverse reactions. In the case of enzyme CYP2C9, the presence of genetic coding variants could be considered a risk factor for suffering from gastrointesti...

journal_title：Pharmacogenetics and genomics

authors： Estany-Gestal A,Salgado-Barreira A,Sánchez-Diz P,Figueiras A

更新日期：2011-07-01 00:00:00

abstract：:There is a considerable interindividual variation in L-thyroxine [3,5,3',5'-tetraiodo-l-thyronine (T4)] dose required for thyrotropin (thyroid-stimulating hormone) suppression in patients with differentiated thyroid cancer. To investigate whether uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1)-mediated T4 gl...

journal_title：Pharmacogenetics and genomics

authors： Vargens DD,Neves RR,Bulzico DA,Ojopi EB,Meirelles RM,Pessoa CN,Prado CM,Gonçalves PA,Leal VL,Suarez-Kurtz G

更新日期：2011-06-01 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

abstract：OBJECTIVE:Clinical response to antipsychotic medications can vary markedly in patients with schizophrenia. Identifying genetic variants associated with treatment response could help optimize patient care and outcome. To this end, we carried out a large-scale candidate gene study to identify genetic risk factors predict...

journal_title：Pharmacogenetics and genomics

authors： Wang D,Fu DJ,Wu X,Shapiro A,Favis R,Savitz A,Chung H,Alphs L,Gopal S,Haas M,Cohen N,Li Q

更新日期：2015-04-01 00:00:00

abstract：OBJECTIVE:Maldescended testes are the most common genital anomaly in newborns and are associated with testicular malignancy and infertility. As the inguinoscrotal phase of testis descent is androgen-dependent and requires integrity of the luteinizing hormone/chorionic gonadotropin receptor (LHCGR), we investigated whet...

journal_title：Pharmacogenetics and genomics

authors： Simoni M,Tüttelmann F,Michel C,Böckenfeld Y,Nieschlag E,Gromoll J

更新日期：2008-03-01 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：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：:A possible association between the combination of genetic variations in hepatocyte nuclear factor 4α (HNF4α) and constitutive androstane receptor (CAR) and the stable doses of warfarin was examined in patients from the Ewha-Severance Treatment (EAST) Group of Warfarin. Around 42.5% of the overall interindividual varia...

journal_title：Pharmacogenetics and genomics

authors： Moon JY,Lee KE,Chang BC,Jeong E,Jeong H,Gwak HS

更新日期：2015-01-01 00:00:00

abstract：OBJECTIVE:Corticotropin-releasing hormone receptor (CRHR)-2 participates in smooth muscle relaxation response and may influence acute airway bronchodilator response to short-acting beta2-agonist treatment of asthma. We aim to assess associations between genetic variants of CRHR2 and acute bronchodilator response in ast...

journal_title：Pharmacogenetics and genomics

authors： Poon AH,Tantisira KG,Litonjua AA,Lazarus R,Xu J,Lasky-Su J,Lima JJ,Irvin CG,Hanrahan JP,Lange C,Weiss ST

更新日期：2008-05-01 00:00:00

abstract：OBJECTIVE:A genome-wide association study has identified several gene polymorphisms associated with loss of renal function. The effect of these variants on renal function in kidney transplant recipients receiving immunosuppressive treatment is unknown. MATERIALS AND METHODS:A cohort of 189 kidney transplant recipients...

journal_title：Pharmacogenetics and genomics

authors： Yan L,Li Y,Tang JT,An YF,Luo LM,Dai B,Shi YY,Wang LL

更新日期：2017-01-01 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：: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：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:The aim of this study was to examine the associations between genetic variations in the human KCNK2 gene and major depressive disorder (MDD) and response to antidepressant treatment. METHOD:Four hundred and forty-nine patients with MDD and 421 normal controls were included in the study; among the MDD patient...

journal_title：Pharmacogenetics and genomics

authors： Liou YJ,Chen TJ,Tsai SJ,Yu YW,Cheng CY,Hong CJ

更新日期：2009-10-01 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：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：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：: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：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：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