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https://www.readbyqxmd.com/read/28817838/pharmacogenetic-determinants-of-outcomes-on-triplet-hepatic-artery-infusion-and-intravenous-cetuximab-for-liver-metastases-from-colorectal-cancer-european-trial-optiliv-nct00852228
#1
Francis Lévi, Abdoulaye Karaboué, Raphaël Saffroy, Christophe Desterke, Valerie Boige, Denis Smith, Mohamed Hebbar, Pasquale Innominato, Julien Taieb, Carlos Carvalho, Rosine Guimbaud, Christian Focan, Mohamed Bouchahda, René Adam, Michel Ducreux, Gérard Milano, Antoinette Lemoine
BACKGROUND: The hepatic artery infusion (HAI) of irinotecan, oxaliplatin and 5-fluorouracil with intravenous cetuximab achieved outstanding efficacy in previously treated patients with initially unresectable liver metastases from colorectal cancer. This planned study aimed at the identification of pharmacogenetic predictors of outcomes. METHODS: Circulating mononuclear cells were analysed for 207 single-nucleotide polymorphisms (SNPs) from 34 pharmacology genes...
August 17, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28816644/cyp2b6-haplotype-predicts-efavirenz-plasma-concentration-in-black-south-african-hiv-1-infected-children-a-longitudinal-pediatric-pharmacogenomic-study
#2
Riaan Reay, Collet Dandara, Michelle Viljoen, Malie Rheeders
South Africa has the highest burden of the human immunodeficiency virus (HIV) infection globally. Efavirenz (EFV), a frequently used drug against HIV infection, displays a relationship between drug concentration and pharmacodynamics effects clinically. However, haplotype-based genetic variation in drug metabolism in a pediatric sample has been little considered in a longitudinal long-term context. CYP2B6 plays a key role in variation of EFV plasma concentration through altered drug metabolism. We report here on a prospective clinical pharmacogenomics/pharmacokinetic study of Bantu-speaking children, importantly, over a period of 24 months post-initiation of EFV-based treatment in South Africa...
August 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28816076/current-drug-and-molecular-therapies-for-the-treatment-of-atrophic-age-related-macular-degeneration-phase-i-to-phase-iii-clinical-development
#3
Huiling Li, Sumana R Chintalapudi, Monica M Jablonski
Age-related macular degeneration (AMD) is the leading cause of vision loss among the elderly. Atrophic AMD, including early, intermediate and geographic atrophy (GA), accounts for ~90% of all cases. It is a multifactorial degeneration characterized by chronic inflammation, oxidative stress and aging components. Although no FDA-approved treatment yet exists for the late stage of atrophic AMD, multiple pathological mechanisms are partially known and several promising therapies are in various stages of development...
August 17, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28811688/genetic-variation-in-cd166-gene-and-its-association-with-bladder-cancer-risk-in-north-indian-population
#4
Archana Verma, Rakesh Kapoor, Rama Devi Mittal
Adhesion molecules play a key role in cancer progression and tumorigenesis. Genetic polymorphism of adhesion molecules may alter the normal functioning thereby leading to bladder cancer susceptibility. Hence we aimed to evaluate three SNPs of CD166 gene (CD166rs6437585 C/T, CD166rs10511244 C/T, and CD166rs1157 A/G) in bladder cancer patients and normal controls of North Indian population. A total of 270 healthy controls and 240 confirmed bladder cancer patients were recruited for this study. Three SNPs of CD166 gene viz...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28811306/replication-and-validation-of-genetic-polymorphisms-associated-with-survival-after-allogeneic-blood-or-marrow-transplant
#5
Ezgi Karaesmen, Abbas A Rizvi, Leah Preus, Philip L McCarthy, Marcelo C Pasquini, Kenan Onel, Xiaochun Zhu, Stephen Spellman, Christopher A Haiman, Daniel O Stram, Loreall Pooler, Xin Sheng, Qianqian Zhu, Li Yan, Qian Liu, Qiang Hu, Amy Webb, Guy Brock, Alyssa I Clay-Gilmour, Sebastiano Battaglia, David Tritchler, Song Liu, Theresa Hahn, Lara E Sucheston-Campbell
Multiple candidate gene association studies of non-HLA single nucleotide polymorphisms (SNPs) and outcomes after blood or marrow transplant (BMT) have been conducted. We identified 70 publications reporting 45 SNPs in 36 genes significantly associated with disease-related mortality, progression-free survival, transplant-related mortality and/or overall survival after BMT. Replication and validation of these SNP associations were performed using DISCOVeRY-BMT, a well-powered genome-wide association study consisting of two cohorts, totaling 2,883 BMT recipients with AML, ALL or MDS and their HLA-matched unrelated donors, treated from 2000-2011 and reported to the CIBMTR...
August 15, 2017: Blood
https://www.readbyqxmd.com/read/28810834/multiple-trait-qtl-mapping-and-genomic-prediction-for-wool-traits-in-sheep
#6
Sunduimijid Bolormaa, Andrew A Swan, Daniel J Brown, Sue Hatcher, Nasir Moghaddar, Julius H van der Werf, Michael E Goddard, Hans D Daetwyler
BACKGROUND: The application of genomic selection to sheep breeding could lead to substantial increases in profitability of wool production due to the availability of accurate breeding values from single nucleotide polymorphism (SNP) data. Several key traits determine the value of wool and influence a sheep's susceptibility to fleece rot and fly strike. Our aim was to predict genomic estimated breeding values (GEBV) and to compare three methods of combining information across traits to map polymorphisms that affect these traits...
August 15, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28809947/high-density-genetic-linkage-map-construction-by-f2-populations-and-qtl-analysis-of-early-maturity-traits-in-upland-cotton-gossypium-hirsutum-l
#7
Libei Li, Shuqi Zhao, Junji Su, Shuli Fan, Chaoyou Pang, Hengling Wei, Hantao Wang, Lijiao Gu, Chi Zhang, Guoyuan Liu, Dingwei Yu, Qibao Liu, Xianlong Zhang, Shuxun Yu
Due to China's rapidly increasing population, the total arable land area has dramatically decreased; as a consequence, the competition for farming land allocated for grain and cotton production has become fierce. Therefore, to overcome the existing contradiction between cotton grain and fiber production and the limited farming land, development of early-maturing cultivars is necessary. In this research, a high-density linkage map of upland cotton was constructed using genotyping by sequencing (GBS) to discover single nucleotide polymorphism (SNP) markers associated with early maturity in 170 F2 individuals derived from a cross between LU28 and ZHONG213...
2017: PloS One
https://www.readbyqxmd.com/read/28808384/molecular-authentication-of-the-traditional-medicinal-plant-lakshman-booti-smithia-conferta-sm-and-its-adulterants-through-dna-barcoding
#8
Suraj D Umdale, Parthraj R Kshirsagar, Manoj M Lekhak, Nikhil B Gaikwad
BACKGROUND: Smithia conferta Sm. is an annual herb widely used in Indian traditional medical practice and commonly known as "Lakshman booti" in Sanskrit. Morphological resemblance among the species of genus Smithia Aiton. leads to inaccurate identification and adulteration. This causes inconsistent therapeutic effects and also affects the quality of herbal medicine. AIM: This study aimed to generate potential barcode for authentication of S. conferta and its adulterants through DNA barcoding technique...
July 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28807856/low-levels-of-genetic-diversity-associated-with-evidence-of-negative-selection-on-the-babesia-bovis-apical-membrane-antigen-1-from-parasite-populations-in-thailand
#9
Amarin Rittipornlertrak, Boondarika Nambooppha, Pacharathon Simking, Veerasak Punyapornwithaya, Saruda Tiwananthagorn, Sathaporn Jittapalapong, Yang-Tsung Chung, Nattawooti Sthitmatee
Babesia bovis, a parasite infecting cattle and buffalo, continues to spread throughout the developing world. The babesial vaccine was developed to be a sustainable alternative treatment to control the parasite. However, genetic diversity is a major obstacle for designing and developing a safe and effective vaccine. The apical membrane antigen 1 (AMA-1) is considered to be a potential vaccine candidate antigen among immunogenic genes of B. bovis. To gain a more comprehensive understanding of B. bovis AMA-1 (BbAMA-1), three B...
August 12, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28807247/interleukins-as-new-prognostic-genetic-biomarkers-in-non-small-cell-lung-cancer
#10
Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Ahmed Alnatsha, Miguel Ángel Molina, Ana I Robles, Eduardo Villar, Juan Ramón Delgado, María José Faus-Dáder, Miguel Ángel Calleja-Hernández
BACKGROUND: Surgery is the standard treatment for early-stage NSCLC, and platinum-based chemotherapy remains as the treatment of choice for advanced-stage NSCLC patients with naïve EGFR status. However, overall 5-years relative survival rates are low. Interleukins (ILs) are crucial for processes associated with tumor development. In NSCLC, IL1B, IL6, IL12A, IL13 and IL16 gene polymorphisms may contribute to individual variation in terms of patient survival. The purpose of this study was to evaluate the association between IL gene polymorphisms and survival in NSCLC patients...
September 2017: Surgical Oncology
https://www.readbyqxmd.com/read/28806928/colour-polymorphic-lures-exploit-innate-preferences-for-spectral-versus-luminance-cues-in-dipteran-prey
#11
Thomas E White, Darrell J Kemp
BACKGROUND: Theory predicts that colour polymorphism may be favored by variation in the visual context under which signals are perceived. The context encompasses all environmental determinants of light availability and propagation, but also the dynamics of perception in receivers. Color vision involves the neural separation of information into spectral versus luminance channels, which often differentially guide specific tasks. Here we explicitly tested whether this discrete perceptual basis contributes to the maintenance of polymorphism in a prey-luring system...
August 14, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28806841/genetic-polymorphisms-as-predictive-markers-of-response-to-growth-hormone-therapy-in-children-with-growth-hormone-deficiency
#12
Anna Maria Jung, Martin Zenker, Christina Lißewski, Denny Schanze, Stefan Wagenpfeil, Tilman Robert Rohrer
Objective Growth hormone (GH) deficiency (GHD) is commonly treated with recombinant human GH (rhGH). Individual response to rhGH therapy varies widely and there is evidence that variations in growth-related genes, e. g. the GH receptor (GHR) gene, may impact treatment response. We aimed to identify genetic polymorphisms which could serve as predictive markers of response to rhGH therapy. Methods We conducted a genetic analysis of single nucleotide polymorphisms (SNPs) and the GHR exon 3 deletion in 101 paediatric GHD patients receiving rhGH...
August 14, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28806401/a-gdf15-3-utr-variant-rs1054564-results-in-allele-specific-translational-repression-of-gdf15-by-hsa-mir-1233-3p
#13
Ming-Sheng Teng, Lung-An Hsu, Shu-Hui Juan, Wen-Chi Lin, Ming-Cheng Lee, Cheng-Wen Su, Semon Wu, Yu-Lin Ko
Growth differentiation factor 15 (GDF15) is a strong predictor of cardiovascular events and mortality in individuals with or without cardiovascular diseases. Single nucleotide polymorphisms (SNPs) in microRNA (miRNA) target sites, also known as miRSNPs, are known to enhance or weaken miRNA-mRNA interactions and have been linked to diseases such as cardiovascular disease and cancer. In this study, we aimed to elucidate the functional significance of the miRSNP rs1054564 in regulating GDF15 levels. Two rs1054564-containing binding sites for hsa-miR-873-5p and hsa-miR-1233-3p were identified in the 3' untranslated region (UTR) of the GDF15 transcript using bioinformatics tools...
2017: PloS One
https://www.readbyqxmd.com/read/28806064/conditional-displacement-hybridization-assay-for-multiple-snp-phasing
#14
Tsz Wing Fan, Henson L Lee Yu, I-Ming Hsing
The two chromosomal copies of the human genome are highly polymorphic, and the allelic content on each strand can dictate a person's biological outcomes. While many of the current diagnostic tools are able to detect the presence of multiple mutations at the same time, most cannot determine the phase of these mutations unless long-range PCR or sequencing techniques are used or if templates are compartmentalized into single copies prior to amplification. Here, an enzyme-coupled hybridization assay, named Conditional Displacement Hybridization Assay (CDHA), is described for the concurrent and rapid determination of the presence and phase of SNP variants...
August 14, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28805974/effect-of-single-nucleotide-polymorphisms-in-adh1b-adh4-adh1c-oprm1-drd2-bdnf-and-aldh2-genes-on-alcohol-dependence-in-a-caucasian-population
#15
Martha-Spyridoula Katsarou, Konstantinos Karakonstantis, Nikolaos Demertzis, Emmanouil Vourakis, Aspasia Skarpathioti, Aleksandr E Nosyrev, Aristidis Tsatsakis, Theodoris Kalogridis, Nikolaos Drakoulis
Alcohol is a frequently used addictive substance worldwide. Aim of this study is to determine the frequency distribution of SNPs within ADH1B, ADH4, ADH1C, ALDH2, BDNF, OPRM1, and DRD2 genes in a southeastern European Caucasian population from Greece. For this purpose samples of 1276 volunteers were analyzed after deidentification and anonymization. The allele distribution of the examined polymorphisms in the present Greek population cohort was as follows: rs1229984 (ADH1B): GG(wt) = 64.14%, GA = 29.86%, AA = 4...
August 2017: Pharmacology Research & Perspectives
https://www.readbyqxmd.com/read/28804651/pharmacogenetic-biomarkers-to-predict-treatment-response-in-multiple-sclerosis-current-and-future-perspectives
#16
REVIEW
Patricia K Coyle
Disease-modifying therapies (DMTs) have significantly advanced the treatment of relapsing multiple sclerosis (MS), decreasing the frequency of relapses, disability, and magnetic resonance imaging lesion formation. However, patients' responses to and tolerability of DMTs vary considerably, creating an unmet need for biomarkers to identify likely responders and/or those who may have treatment-limiting adverse reactions. Most studies in MS have focused on the identification of pharmacogenetic markers, using either the candidate-gene approach, which requires prior knowledge of the genetic marker and its role in the target disease, or genome-wide association, which examines multiple genetic variants, typically single nucleotide polymorphisms (SNPs)...
2017: Multiple Sclerosis International
https://www.readbyqxmd.com/read/28803874/range-expansion-compromises-adaptive-evolution-in-an-outcrossing-plant
#17
Santiago C González-Martínez, Kate Ridout, John R Pannell
Neutral genetic diversity gradients have long been used to infer the colonization history of species [1, 2], but range expansion may also influence the efficacy of natural selection and patterns of non-synonymous polymorphism in different parts of a species' range [3]. Recent theory predicts both an accumulation of deleterious mutations and a reduction in the efficacy of positive selection as a result of range expansion [4-8]. These signatures have been sought in a number of studies of the human range expansion out of Africa, but with contradictory results [9-14]...
August 4, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28801372/multi-variant-genetic-panel-for-genetic-risk-of-opioid-addiction
#18
Keri Donaldson, Laurence Demers, Kirk Taylor, Joe Lopez, Sherman Chang
Over 116 million people worldwide have chronic pain and prescription dependence. In the US, opioids account for the majority of overdose deaths, and in 2014, almost 2 million Americans abused or were dependent on prescription opioids. Genetic factors may play a key role in opioid prescription addiction. Herein, we describe genetic variations between opioid addicted and non-addicted populations and derive a predictive model determining risk of opioid addiction. This case cohort study compares the frequency of 16 single nucleotide polymorphisms involved in the brain reward pathways in patients with and without opioid addiction...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28800122/increased-expression-of-plasma-induced-abcc1-mrna-in-cystic-fibrosis
#19
Justin E Ideozu, Xi Zhang, Amy Pan, Zainub Ashrafi, Katherine J Woods, Martin J Hessner, Pippa Simpson, Hara Levy
The ABCC1 gene is structurally and functionally related to the cystic fibrosis transmembrane conductance regulator gene (CFTR). Upregulation of ABCC1 is thought to improve lung function in patients with cystic fibrosis (CF); the mechanism underlying this effect is unknown. We analyzed the ABCC1 promoter single nucleotide polymorphism (SNP rs504348), plasma-induced ABCC1 mRNA expression levels, and ABCC1 methylation status and their correlation with clinical variables among CF subjects with differing CFTR mutations...
August 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28799976/effect-of-gene-gene-and-gene-environment-interactions-associated-with-antituberculosis-drug-induced-hepatotoxicity
#20
Julián G Chamorro, Jorge P Castagnino, Omar Aidar, Rosa M Musella, Ana Frías, Mabel Visca, Mabel Nogueras, Lucas Costa, Alessandro Perez, Fabio Caradonna, Gabriela F de Larrañaga
OBJECTIVES: This study evaluated the association between environmental factors and genetic variations in enzymes that metabolize antituberculosis (anti-TB) drugs [arylamine N-acetyltransferase 2, cytochrome P450 2E1 (CYP2E1), glutathione S-transferase theta 1 (GSTT1), and glutathione S-transferase mu 1] with antituberculosis drug-induced hepatotoxicity (ATDH). We also investigated the potential gene-gene and gene-environment interactions as well as their association with ATDH development in a population of hospitalized TB patients from Buenos Aires...
August 9, 2017: Pharmacogenetics and Genomics
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