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Pharmacogenomics Journal

G E B Wright, B Carleton, M R Hayden, C J D Ross
Differences in response to medications have a strong genetic component. By leveraging publically available data, the spectrum of such genomic variation can be investigated extensively. Pharmacogenomic variation was extracted from the 1000 Genomes Project Phase 3 data (2504 individuals, 26 global populations). A total of 12 084 genetic variants were found in 120 pharmacogenes, with the majority (90.0%) classified as rare variants (global minor allele frequency <0.5%), with 52.9% being singletons. Common variation clustered individuals into continental super-populations and 23 pharmacogenes contained highly differentiated variants (FST>0...
October 25, 2016: Pharmacogenomics Journal
P Huezo-Diaz Curtis, C R S Uppugunduri, J Muthukumaran, M A Rezgui, C Peters, P Bader, M Duval, H Bittencourt, Maja Krajinovic, Marc Ansari
Sinusoidal obstruction syndrome (SOS) is a severe complication of hematopoietic stem cell transplantation (HSCT) that can be fatal, often attributed to the conditioning regimen prior to HSCT. We evaluated the association of SOS risk with gene variants in cystathionase (CTH), an enzyme involved in glutathione synthesis, in 76 children receiving intravenous busulfan (Bu) before HSCT. Our results indicated an association with CTHc.1364 G>T (ORTT=10.6, 95% confidence interval (CI)=2.16, 51.54) and SOS risk, which was sex dependent (female patients, ORTT=21...
October 25, 2016: Pharmacogenomics Journal
M Frías, D Rodríguez-Cano, F Cuenca-López, J Macías, A Gordon, B Manzanares-Martín, J A Pineda, Á Camacho, J Torre-Cisneros, J Peña, A Rivero-Juárez, A Rivero
No abstract text is available yet for this article.
October 25, 2016: Pharmacogenomics Journal
S J Bielinski, J L St Sauver, J E Olson, M L Wieland, C R Vitek, E J Bell, M E Mc Gree, D J Jacobson, J B McCormick, P Y Takahashi, J L Black, P J Caraballo, R R Sharp, T J Beebe, R M Weinshilboum, L Wang, V L Roger
No abstract text is available yet for this article.
October 25, 2016: Pharmacogenomics Journal
M Rieck, A F Schumacher-Schuh, V Altmann, S M Callegari-Jacques, C R M Rieder, M H Hutz
Levodopa is the most used drug to treat motor symptoms in Parkinson's disease (PD). However, dopaminergic side effects such as nausea and vomiting may occur. Several evidences indicate a major role for dopamine receptors D2 (DRD2) and D3 (DRD3) in emetic activity. The aim of this study was to investigate the relationship of DRD2 rs1799732 and DRD3 rs6280 gene polymorphisms with gastrointestinal (GI) symptoms induced by levodopa in PD patients. Two hundred and seventeen PD patients on levodopa therapy were investigated...
October 25, 2016: Pharmacogenomics Journal
S Pontikakis, C Papadaki, M Tzardi, M Trypaki, M Sfakianaki, F Koinis, E Lagoudaki, L Giannikaki, A Kalykaki, E Kontopodis, Z Saridaki, N Malamos, V Georgoulias, J Souglakos
To evaluate the predictive value of genes involved in resistance to platinum-taxane chemotherapy in patients with epithelial ovarian cancer (EOC). Microdissected formalin-fixed tumoral samples from 187 EOC patients' primary tumors (90 and 97 samples from matched patients in the experimental and validation sets, respectively) were analyzed. All specimens were analyzed for ATP7b, BRCA1, BRCA2, PARP1, UIMC1(RAP80), HOXA9, DAXX, TXN (TRX1), THBS1 (TSP1) and PRR13 (TXR1) mRNA expression by quantitative real-time PCR...
October 25, 2016: Pharmacogenomics Journal
J L Baker, D Shriner, A R Bentley, C N Rotimi
As the common birthplace of all human populations, modern humans have lived longer on the African continent than in any other geographical region of the world. This long history, along with the evolutionary need to adapt to environmental challenges such as exposure to infectious agents, has led to greater genetic variation in Africans. The vast genetic variation in Africans also extends to genes involved in the absorption, distribution, metabolism and excretion of pharmaceuticals. Ongoing cataloging of these clinically relevant variants reveals huge allele-frequency differences within and between African populations...
October 25, 2016: Pharmacogenomics Journal
M B Madsen, L J A Kogelman, H N Kadarmideen, H B Rasmussen
Selective serotonin reuptake inhibitors (SSRIs) are the most widely used antidepressants, but the efficacy of the treatment varies significantly among individuals. It is believed that complex genetic mechanisms play a part in this variation. We have used a network based approach to unravel the involved genetic components. Moreover, we investigated the potential difference in the genetic interaction networks underlying SSRI treatment response over time. We found four hub genes (ASCC3, PPARGC1B, SCHIP1 and TMTC2) with different connectivity in the initial SSRI treatment period (baseline to week 4) compared with the subsequent period (4-8 weeks after initiation), suggesting that different genetic networks are important at different times during SSRI treatment...
October 18, 2016: Pharmacogenomics Journal
A Sebio, S Stintzing, V Heinemann, Y Sunakawa, W Zhang, W Ichikawa, A Tsuji, T Takahashi, A Parek, D Yang, S Cao, Y Ning, S Stremitzer, S Matsusaka, S Okazaki, A Barzi, M D Berger, H-J Lenz
The Hippo pathway is involved in colorectal cancer (CRC) development and progression. The Hippo regulator Rassf1a is also involved in the Ras signaling cascade. In this work, we tested single nucleotide polymorphisms within Hippo components and their association with outcome in CRC patients treated with cetuximab. Two cohorts treated with cetuximab plus chemotherapy were evaluated (198 RAS wild-type (WT) patients treated with first-line FOLFIRI plus Cetuximab within the FIRE-3 trial and 67 Ras WT patients treated either with first-line mFOLFOX6 or SOX plus Cetuximab)...
October 4, 2016: Pharmacogenomics Journal
A Novillo, A Romero-Lorca, M Gaibar, M Rubio, A Fernández-Santander
No abstract text is available yet for this article.
October 4, 2016: Pharmacogenomics Journal
J Sode, U Vogel, S Bank, P S Andersen, M L Hetland, H Locht, N H H Heegaard, V Andersen
Several genetic variants in Toll-like receptor (TLR) and nuclear factor (NF)-κB signalling pathways have been reported associated with responsiveness to tumour necrosis factor inhibitor (anti-TNF) treatment in rheumatoid arthritis (RA). The present study was undertaken to replicate these findings. In a retrospective case-case study including 1007 Danish anti-TNF-treated RA patients, we genotyped 7 previously reported associated single-nucleotide polymorphisms (SNPs) in these pathways. Furthermore, 5 SNPs previously reported by our group were genotyped in a subcohort (N=469)...
October 4, 2016: Pharmacogenomics Journal
C De Andres, M I García, H Goicoechea, M L Martínez-Ginés, J M García-Domínguez, M L Martín, F Romero-Delgado, A Benguría, M Sanjurjo, L A López-Fernández
Intravenous methylprednisolone (IVMP) is the gold standard treatment in acute relapses of multiple sclerosis. Knowing the response to IVMP in advance could facilitate earlier selection of patients for subsequent courses of therapy. However, molecular mechanisms and changes in gene expression induced by methylprednisolone remain unknown. The aim of the study was to identify in vivo differentially expressed genes in relapsing-remitting multiple sclerosis patients after 3-6 days of treatment with IVMP. For this purpose, whole-genome transcription profiling of CD4+ T lymphocytes was performed before and after treatment with IVMP in 8 relapsing-remitting multiple sclerosis patients during relapse using Human GE 4x44K v2 microarrays...
September 27, 2016: Pharmacogenomics Journal
S-W Chang, C W McDonough, Y Gong, T A Johnson, T Tsunoda, E R Gamazon, M A Perera, A Takahashi, T Tanaka, M Kubo, C J Pepine, J A Johnson, R M Cooper-DeHoff
We conducted a discovery genome-wide association study with expression quantitative trait loci (eQTL) annotation of new-onset diabetes (NOD) among European Americans, who were exposed to a calcium channel blocker-based strategy (CCB strategy) or a β-blocker-based strategy (β-blocker strategy) in the INternational VErapamil SR Trandolapril STudy. Replication of the top signal from the SNP*treatment interaction analysis was attempted in Hispanic and African Americans, and a joint meta-analysis was performed (total 334 NOD cases and 806 matched controls)...
September 27, 2016: Pharmacogenomics Journal
A Batalla, E Coto, J Gómez, N Eirís, D González-Fernández, C Gómez-De Castro, E Daudén, M Llamas-Velasco, R Prieto-Perez, F Abad-Santos, G Carretero, F S García, Y B Godoy, L F Cardo, B Alonso, S Iglesias, P Coto-Segura
Polymorphisms at genes encoding proteins involved in the pathogenesis of psoriasis (Psor) or in the mechanism of action of biological drugs could influence the treatment response. Because the interleukin (IL)-17 family has a central role in the pathogenesis of Psor, we hypothesized that IL17RA variants could influence the response to anti-TNF drugs among Psor patients. To address this issue we performed a cross-sectional study of Psor patients who received the biological treatments for the first time, with a follow-up of at least 6 months...
September 27, 2016: Pharmacogenomics Journal
R Prieto-Pérez, G Solano-López, T Cabaleiro, M Román, D Ochoa, M Talegón, O Baniandrés, J L López-Estebaranz, P de la Cueva, E Daudén, F Abad-Santos
Anti-tumor necrosis factor (anti-TNF) drugs are effective against psoriasis, although 20-30% of patients are nonresponders. Few pharmacogenomic studies have been performed to predict the response to anti-TNF drugs in psoriasis. We studied 173 polymorphisms to establish an association with the response to anti-TNF drugs in patients with moderate-to-severe plaque psoriasis (N=144). We evaluated the response using PASI75 at 3, 6 and 12 months. The results of the multivariate analysis showed an association between polymorphisms in PGLYR4, ZNF816A, CTNNA2, IL12B, MAP3K1 and HLA-C genes and the response at 3 months...
September 27, 2016: Pharmacogenomics Journal
B Mohelnikova-Duchonova, M Kocik, B Duchonova, V Brynychova, M Oliverius, J Hlavsa, E Honsova, J Mazanec, Z Kala, I Ojima, D J Hughes, J E Doherty, H A Murray, M A Crockard, R Lemstrova, P Soucek
The Hedgehog pathway is one of the major driver pathways in pancreatic ductal adenocarcinoma. This study investigated prognostic importance of Hedgehog signaling pathway in pancreatic cancer patients who underwent a radical resection. Tumors and adjacent non-neoplastic pancreatic tissues were obtained from 45 patients with histologically verified pancreatic cancer. The effect of experimental taxane chemotherapy on the expression of Hedgehog pathway was evaluated in vivo using a mouse xenograft model prepared using pancreatic cancer cell line Paca-44...
August 30, 2016: Pharmacogenomics Journal
D L Hertz, K M Kidwell, N J Seewald, C L Gersch, Z Desta, D A Flockhart, A-M Storniolo, V Stearns, T C Skaar, D F Hayes, N L Henry, J M Rae
Discovery of clinical and genetic predictors of exemestane pharmacokinetics was attempted in 246 postmenopausal patients with breast cancer enrolled on a prospective clinical study. A sample was collected 2 h after exemestane dosing at a 1- or 3-month study visit to measure drug concentration. The primary hypothesis was that patients carrying the low-activity CYP3A4*22 (rs35599367) single-nucleotide polymorphism (SNP) would have greater exemestane concentration. Additional SNPs in genes relevant to exemestane metabolism (CYP1A1/2, CYP1B1, CYP3A4, CYP4A11, AKR1C3/4, AKR7A2) were screened in secondary analyses and adjusted for clinical covariates...
August 23, 2016: Pharmacogenomics Journal
Y Yang, S Chen, F Yang, L Zhang, G Alterovitz, H Zhu, J Xuan, X Yang, H Luo, J Mu, L He, X Luo, Q Xing
Clindamycin causes cutaneous adverse drug reactions (cADRs), sometimes with the mechanisms of pathogenicity or risk factors unknown. This study aims to assess whether HLA alleles are associated with clindamycin-related cADRs in the Han Chinese population. We performed an association study of 12 subjects with clindamycin-related cADRs, 279 controls and 26 clindamycin-tolerant subjects. Subjects who received clindamycin through intravenous drip were analyzed separately. Unbiased, in silico docking was conducted...
August 16, 2016: Pharmacogenomics Journal
J M Campbell, M D Stephenson, E Bateman, M D J Peters, D M Keefe, J M Bowen
Irinotecan chemotherapy toxicities can be severe, and may result in treatment delay, morbidity and in some rare cases death. This systematic review of systematic reviews synthesises all meta-analyses on biomarkers for irinotecan toxicity across all genetic models for Asians, Caucasians, low dose, medium/high dose and regimens with and without fluorouracil. False-positive findings are a problem in pharmacogenetics, increasing the importance of systematic reviews. Four systematic reviews that investigated the effect of the polymorphisms UGT1A1*6 and/or*28 on neutropenia or diarrhoea toxicity were included...
August 9, 2016: Pharmacogenomics Journal
S Matsusaka, S Cao, D L Hanna, Y Sunakawa, M Ueno, N Mizunuma, W Zhang, D Yang, Y Ning, S Stintzing, A Sebio, S Stremitzer, S Yamauchi, A Parekh, S Okazaki, M D Berger, R El-Khoueiry, A Mendez, W Ichikawa, F Loupakis, H-J Lenz
We analyzed associations between CXCR4/CXCL12 single-nucleotide polymorphisms and outcomes in metastatic colorectal cancer (mCRC) patients who underwent first-line bevacizumab-based chemotherapy. A total of 874 patients were included in this study: 144 treated with bevacizumab and FOLFOX or XELOX (training cohort), 653 treated with bevacizumab and FOLFIRI or FOLFOXIRI (validation cohort A or B) and 77 treated with cetuximab- and oxaliplatin-based regimens (control cohort). One CXCR4 polymorphism (rs2228014) and two CXCL12 polymorphisms (rs1801157 and rs3740085) were analyzed by PCR-based direct sequencing...
August 9, 2016: Pharmacogenomics Journal
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