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https://www.readbyqxmd.com/read/28214980/sil2r-ratio-as-early-marker-for-response-in-hairy-cell-leukemia-and-the-prognostic-relevance-of-il28b-genotype-to-interferon-%C3%AE-therapy
#1
Stéphanie Jud, Jeroen S Goede, Oliver Senn, Katharina Spanaus, Markus G Manz, Rudolf Benz
Interferon-α (IFNα) was the first effective drug therapy for hairy cell leukemia (HCL). Nowadays, it is used as an alternative treatment in selected patients. Due to unlimited treatment time, monitoring and early prediction of response are important. Moreover, IFNα is used in the therapy of chronic hepatitis C, where a single nucleotide polymorphism of interleukin-28B gene (IL28B) correlates with therapy response. The role of this polymorphism in therapy response of IFNα-treated patients with HCL is unknown...
February 18, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28214914/the-impact-of-bitter-taste-receptor-genetics-on-culturable-bacteria-in-chronic-rhinosinusitis
#2
D I Rom, J M Christensen, R Alvarado, R Sacks, R J Harvey
BACKGROUND: Extra-oral bitter taste receptors have been associated with innate bacterial defence mechanisms. Genetic variation in T2R38 functionality has been shown to be associated with susceptibility to upper respiratory tract infections and chronic rhinosinusitis (CRS). We sought to independently assess the influence of bitter taste receptor genotype on the presence of culturable bacteria in the sinuses. METHODOLOGY: A cross-sectional analysis of patients with CRS undergoing surgery was performed...
February 19, 2017: Rhinology
https://www.readbyqxmd.com/read/28213955/the-skin-barrier-function-gene-spink5-is-associated-with-challenge-proven-ige-mediated-food-allergy-in-infants
#3
Sarah E Ashley, Hern-Tze Tina Tan, Peter Vuillermin, Shyamali C Dharmage, Mimi L K Tang, Jennifer Koplin, Lyle C Gurrin, Adrian Lowe, Caroline Lodge, Anne-Louise Ponsonby, John Molloy, Pamela Martin, Melanie C Matheson, Richard Saffery, Katrina J Allen, Justine A Ellis, David Martino
BACKGROUND: A defective skin barrier is hypothesised to be an important route of sensitisation to dietary antigens, and may lead to food allergy in some children. Missense mutations in the Serine peptidase inhibitor kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE mediated food allergy. METHOD: We genotyped 71 'tag' single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kilobases (kb) including SPINK5 (~61kb) in n=722 (n=367 food allergic, n=199 food sensitised, tolerant and n=156 non-food allergic controls) 12-month infants (discovery sample) phenotyped for food allergy with the gold standard oral food challenge (OFC)...
February 18, 2017: Allergy
https://www.readbyqxmd.com/read/28213371/polygenic-risk-scores-in-familial-alzheimer-disease
#4
Giuseppe Tosto, Thomas D Bird, Debby Tsuang, David A Bennett, Bradley F Boeve, Carlos Cruchaga, Kelley Faber, Tatiana M Foroud, Martin Farlow, Alison M Goate, Sarah Bertlesen, Neill R Graff-Radford, Martin Medrano, Rafael Lantigua, Jennifer Manly, Ruth Ottman, Roger Rosenberg, Daniel J Schaid, Nicole Schupf, Yaakov Stern, Robert A Sweet, Richard Mayeux
OBJECTIVE: To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease. METHODS: Using data from the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease (National Institute on Aging-Late-Onset Alzheimer's Disease Family Study), mixed regression models tested the association of familial LOAD with a GRS based on single nucleotide polymorphisms (SNPs) previously associated with LOAD...
February 17, 2017: Neurology
https://www.readbyqxmd.com/read/28212671/an-adaptive-variant-of-trib2-rs1057001-is-associated-with-higher-expression-levels-of-thermogenic-genes-in-human-subcutaneous-and-visceral-adipose-tissues
#5
Kazuhiro Nakayama, Sadahiko Iwamoto
BACKGROUND: An obesity-related single-nucleotide polymorphism (SNP) of the Tribbles pseudokinase 2 gene (TRIB2) was shown to have underwent adaptive evolution in the last glacial period, suggesting a selective advantage of this SNP in human populations in cold environments. In order to verify this hypothesis, the effect of the TRIB2 SNP on the expression of genes involved in adaptive thermogenesis was tested using messenger RNAs prepared from adipose tissues of Japanese adults. METHODS: Complementary DNA was prepared from subcutaneous adipose tissues (SAT) and visceral adipose tissues (VAT) obtained from 48 Japanese adults...
February 17, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28212515/combination-of-aldh2-and-adh1b-polymorphisms-is-associated-with-smoking-initiation-a-large-scale-cross-sectional-study-in-a-japanese-population
#6
Hiroyuki Masaoka, Hidemi Ito, Silvano Gallus, Miki Watanabe, Akira Yokomizo, Masatoshi Eto, Keitaro Matsuo
BACKGROUND: Aldehyde dehydrogenase 2 (ALDH2; rs671, Glu504Lys) and alcohol dehydrogenase 1B (ADH1B; rs1229984, His47Arg) polymorphisms are known to strongly influence alcohol drinking behavior. Given evidence of an association between smoking and drinking behaviors, we hypothesized that ALDH2/ADH1B polymorphisms might also be associated with smoking initiation, and conducted a cross-sectional study to examine this hypothesis. METHODS: Study subjects were first-visit outpatients diagnosed not to have cancer at Aichi Cancer Center Hospital between 2001 and 2005, including 4141 never smokers and 2912 ever smokers...
February 1, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28211154/kir2dl3-and-the-kir-ligand-groups-hla-a-bw4-and-hla-c2-predict-the-outcome-of-hepatitis-b-virus-infection
#7
Danilo Di Bona, Anna Aiello, Claudia Colomba, Massimo Bilancia, Giulia Accardi, Raffaella Rubino, Lidia Giannitrapani, Antonino Tuttolomondo, Antonio Cascio, Maria Filomena Caiaffa, Sergio Rizzo, Gabriele Di Lorenzo, Giuseppina Candore, Luigi Macchia, Giuseppe Montalto, Calogero Caruso
Killer immunoglobulin-like receptors (KIRs) regulate the activation of Natural Killer cells through their interaction with human leukocyte antigens (HLA). KIR and HLA loci are highly polymorphic and certain HLA-KIR combinations have been found to protect against viral infections. In this study we analyzed whether the KIR/HLA repertoire may influence the course of hepatitis B virus (HBV) infection. Fifty-seven subjects with chronic hepatitis B (CHB), 44 subjects with resolved HBV infection, and 60 healthy uninfected controls (HC) were genotyped for KIR and their HLA ligands...
February 17, 2017: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/28210731/pressure-driven-phase-transition-mechanisms-revealed-by-quantum-chemistry-l-serine-polymorphs
#8
Denis A Rychkov, Jernej Stare, Elena V Boldyreva
The present study delivers a computational approach for the understanding of the mechanism of phase transitions between polymorphs of small organic molecules. By using state of the art periodic DFT calculations augmented with dispersion corrections and an external stress tensor together with gas-phase cluster calculations, we thoroughly explained the reversible phase transitions of three polymorphs of the model system, namely crystalline l-serine in the pressure range up to 8 GPa. This study has shown that at the macroscopic level the main driving force of the phase transitions is the decrease in the volume of the crystal unit cell, which contributes to the enthalpy difference between the two forms, but not to the difference in their internal crystal energies...
February 17, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28210634/potential-of-a-pharmacogenetic-guided-algorithm-to-predict-optimal-warfarin-dosing-in-a-high-risk-hispanic-patient-role-of-a-novel-nqo1-2-polymorphism
#9
Dagmar F Hernandez-Suarez, Karla Claudio-Campos, Javier E Mirabal-Arroyo, Bianca A Torres-Hernández, Angel López-Candales, Kyle Melin, Jorge Duconge
Deep abdominal vein thrombosis is extremely rare among thrombotic events secondary to the use of contraceptives. A case to illustrate the clinical utility of ethno-specific pharmacogenetic testing in warfarin management of a Hispanic patient is reported. A 37-year-old Hispanic Puerto Rican, non-gravid female with past medical history of abnormal uterine bleeding on hormonal contraceptive therapy was evaluated for abdominal pain. Physical exam was remarkable for unspecific diffuse abdominal tenderness, and general initial laboratory results-including coagulation parameters-were unremarkable...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28207977/adaptation-of-the-pathogen-pseudomonas-syringae-during-experimental-evolution-on-a-native-versus-alternative-host-plant
#10
Sean Meaden, Britt Koskella
The specialization and distribution of pathogens among species has substantial impact on disease spread, especially when reservoir hosts can maintain high pathogen densities or select for increased pathogen virulence. Theory predicts that optimal within-host growth rate will vary among host genotypes/species, and therefore that pathogens infecting multiple hosts should experience different selection pressures depending on the host environment in which they are found. This should be true for pathogens with broad host ranges, but also those experiencing opportunistic infections on novel hosts or that spill over among host populations...
February 16, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28204845/mirnas-target-databases-developmental-methods-and-target-identification-techniques-with-functional-annotations
#11
REVIEW
Nagendra Kumar Singh
PURPOSE: microRNA (miRNA) regulates diverse biological mechanisms and metabolisms in plants and animals. Thus, the discoveries of miRNA has revolutionized the life sciences and medical research.The miRNA represses and cleaves the targeted mRNA by binding perfect or near perfect or imperfect complementary base pairs by RNA-induced silencing complex (RISC) formation during biogenesis process. One miRNA interacts with one or more mRNA genes and vice versa, hence takes part in causing various diseases...
February 15, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28203149/gene-gene-environment-interactions-of-serotonin-transporter-monoamine-oxidase-a-and-childhood-maltreatment-predict-aggressive-behavior-in-chinese-adolescents
#12
Yun Zhang, Qing-Sen Ming, Jin-Yao Yi, Xiang Wang, Qiao-Lian Chai, Shu-Qiao Yao
Gene-environment interactions that moderate aggressive behavior have been identified independently in the serotonin transporter (5-HTT) gene and monoamine oxidase A gene (MAOA). The aim of the present study was to investigate epistasis interactions between MAOA-variable number tandem repeat (VNTR), 5-HTTlinked polymorphism (LPR) and child abuse and the effects of these on aggressive tendencies in a group of otherwise healthy adolescents. A group of 546 Chinese male adolescents completed the Child Trauma Questionnaire and Youth self-report of the Child Behavior Checklist...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/28202748/rna-splicing-in-human-disease-and-in-the-clinic
#13
REVIEW
Diana Baralle, Emanuele Buratti
Defects at the level of the pre-mRNA splicing process represent a major cause of human disease. Approximately 15-50% of all human disease mutations have been shown to alter functioning of basic and auxiliary splicing elements. These elements are required to ensure proper processing of pre-mRNA splicing molecules, with their disruption leading to misprocessing of the pre-mRNA molecule and disease. The splicing process is a complex process, with much still to be uncovered before we are able to accurately predict whether a reported genomic sequence variant (GV) represents a splicing-associated disease mutation or a harmless polymorphism...
March 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28202046/highly-predictive-snp-markers-for-efficient-selection-of-the-wheat-leaf-rust-resistance-gene-lr16
#14
Mulualem T Kassa, Frank M You, Colin W Hiebert, Curtis J Pozniak, Pierre R Fobert, Andrew G Sharpe, James G Menzies, D Gavin Humphreys, Nicole Rezac Harrison, John P Fellers, Brent D McCallum, Curt A McCartney
BACKGROUND: Lr16 is a widely deployed leaf rust resistance gene in wheat (Triticum aestivum L.) that is highly effective against the North American Puccinia triticina population when pyramided with the gene Lr34. Lr16 is a seedling leaf rust resistance gene conditioning an incompatible interaction with a distinct necrotic ring surrounding the uredinium. Lr16 was previously mapped to the telomeric region of the short arm of wheat chromosome 2B. The goals of this study were to develop numerous single nucleotide polymorphism (SNP) markers for the Lr16 region and identify diagnostic gene-specific SNP marker assays for marker-assisted selection (MAS)...
February 15, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28202008/relationship-between-abcb1-3435tt-genotype-and-antiepileptic-drugs-resistance-in-epilepsy-updated-systematic-review-and-meta-analysis
#15
Malek Chouchi, Wajih Kaabachi, Hedia Klaa, Kalthoum Tizaoui, Ilhem Ben-Youssef Turki, Lamia Hila
BACKGROUND: Antiepileptic drugs (AEDs) are effective medications available for epilepsy. However, many patients do not respond to this treatment and become resistant. Genetic polymorphisms may be involved in the variation of AEDs response. Therefore, we conducted an updated systematic review and a meta-analysis to investigate the contribution of the genetic profile on epilepsy drug resistance. METHODS: We proceeded to the selection of eligible studies related to the associations of polymorphisms with resistance to AEDs therapy in epilepsy, published from January 1980 until November 2016, using Pubmed and Cochrane Library databases...
February 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28199751/impact-of-polymorphisms-in-angiogenesis-related-genes-on-clinical-outcomes-of-radiotherapy-in-patients-with-nasopharyngeal-carcinoma
#16
Wan-Le Ma, Rong Liu, Li-Hua Huang, Chan Zou, Jie Huang, Jing Wang, Shao-Jun Chen, Xiang-Guang Meng, Jing-Ke Yang, Han Li, Guo-Ping Yang, Cheng-Xian Guo
PURPOSE: To assess the relationship between gene polymorphism in angiogenesis-related genes and radiation responses in nasopharyngeal carcinoma (NPC) patients. METHODS: The genotypes of 180 NPC patients were analyzed by Sequenom MassARRAY. The Response Evaluation Criteria in Solid Tumors were used for assessing efficacies. And The criteria of Radiation Therapy Oncology Group or European Organization for Research & Treatment of Cancer were utilized for evaluating acute toxic reactions in response to radiation...
February 15, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28198815/enhancing-genomic-prediction-with-genome-wide-association-studies-in-multiparental-maize-populations
#17
Y Bian, J B Holland
Genome-wide association mapping using dense marker sets has identified some nucleotide variants affecting complex traits that have been validated with fine-mapping and functional analysis. However, many sequence variants associated with complex traits in maize have small effects and low repeatability. In contrast to genome-wide association study (GWAS), genomic prediction (GP) is typically based on models incorporating information from all available markers, rather than modeling effects of individual loci. We considered methods to integrate results of GWASs into GP models in the context of multiple interconnected families...
February 15, 2017: Heredity
https://www.readbyqxmd.com/read/28198399/discovery-of-the-fe-analogue-of-akimotoite-in-the-shocked-suizhou-l6-chondrite
#18
Luca Bindi, Ming Chen, Xiande Xie
We report the first natural occurrence of the Fe-analogue of akimotoite, ilmenite-structured MgSiO3, a missing phase among the predicted high-pressure polymorphs of Fe-pyroxene, with the composition (Fe(2+)0.48Mg0.37Ca0.04Na0.04Mn(2+)0.03Al0.03Cr(3+)0.01)Σ=1.00Si1.00O3. The new mineral was approved by the International Mineralogical Association (IMA 2016-085) and named hemleyite in honour of Russell J. Hemley. It was discovered in an unmelted portion of the heavily shocked L6 Suizhou chondrite closely associated to olivine, clinoenstatite and Fe-bearing pyroxene with a composition nearly identical to that of hemleyite...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28198095/genetic-risk-models-influence-of-model-size-on-risk-estimates-and-precision
#19
Ying Shan, Gerard Tromp, Helena Kuivaniemi, Diane T Smelser, Shefali S Verma, Marylyn D Ritchie, James R Elmore, David J Carey, Yvette P Conley, Michael B Gorin, Daniel E Weeks
Disease risk estimation plays an important role in disease prevention. Many studies have found that the ability to predict risk improves as the number of risk single-nucleotide polymorphisms (SNPs) in the risk model increases. However, the width of the confidence interval of the risk estimate is often not considered in the evaluation of the risk model. Here, we explore how the risk and the confidence interval width change as more SNPs are added to the model in the order of decreasing effect size, using both simulated data and real data from studies of abdominal aortic aneurysms and age-related macular degeneration...
February 15, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28196109/associations-between-pon1-enzyme-activities-in-human-ovarian-follicular-fluid-and-serum-specimens
#20
Keewan Kim, Michael S Bloom, Victor Y Fujimoto, Richard W Browne
The importance of high-density lipoprotein (HDL) particle components to reproduction is increasingly recognized, including the constituent paraoxonase 1 (PON1). However, the reliability characteristics of PON1 enzymes in ovarian follicular fluid (FF) as biomarkers for clinical and epidemiologic studies have not been described. Therefore, we characterized PON1 enzymes in FF and serum and assessed the impact of the PON1 Q192R polymorphism on associations between enzyme activities in two compartments. We also evaluated associations between HDL particle size and enzyme activities...
2017: PloS One
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