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https://www.readbyqxmd.com/read/28817824/parametric-linkage-analysis-identifies-five-novel-genome-wide-significant-loci-for-familial-lung-cancer
#1
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
OBJECTIVE: One of four American cancer patients dies of lung cancer. Environmental factors such as tobacco smoking are known to affect lung cancer risk. However, there is a genetic factor to lung cancer risk as well. Here, we perform parametric linkage analysis on family-based genotype data in an effort to find genetic loci linked to the disease. METHODS: 197 individuals from families with a high-risk history of lung cancer were recruited and genotyped using an Illumina array...
August 18, 2017: Human Heredity
https://www.readbyqxmd.com/read/28817788/the-joint-effect-of-the-endothelin-receptor-b-gene-ednrb-polymorphism-rs10507875-and-nitric-oxide-synthase-3-gene-nos3-polymorphism-rs869109213-in-slovenian-patients-with-type-2-diabetes-mellitus-and-diabetic-retinopathy
#2
Dejan Bregar, Ines Cilenšek, Sara Mankoč, Ana Reschner, Danijel Petrovič, Mojca Globočnik Petrovič
Increasing evidence suggests that endothelin and nitric oxide synthase genes and their products exert biological effects on the vasculature via the nitric oxide or endothelin pathway. The aim of the study was to evaluate the association of rs10507875 and rs869109213 (alone or in interaction) with diabetic retinopathy (DR) in subjects with type 2 diabetes mellitus (T2DM). We genotyped the single nucleotide polymorphism rs10507875 of the endothelin receptor B gene (EDNRB) and variable number tandem repeats rs869109213 of the nitric oxide synthase 3 gene (NOS3) in 270 Slovenian patients with DR and T2DM and 256 controls with T2DM without clinical signs of DR...
August 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28817735/association-of-gene-expression-with-biomass-content-and-composition-in-sugarcane
#3
Nam V Hoang, Agnelo Furtado, Angela J O'Keeffe, Frederik C Botha, Robert J Henry
About 64% of the total aboveground biomass in sugarcane production is from the culm, of which ~90% is present in fiber and sugars. Understanding the transcriptome in the sugarcane culm, and the transcripts that are associated with the accumulation of the sugar and fiber components would facilitate the modification of biomass composition for enhanced biofuel and biomaterial production. The Sugarcane Iso-Seq Transcriptome (SUGIT) database was used as a reference for RNA-Seq analysis of variation in gene expression between young and mature tissues, and between 10 genotypes with varying fiber content...
2017: PloS One
https://www.readbyqxmd.com/read/28817717/short-report-trpv1-polymorphism-1911-a-g-alters-capsaicin-induced-sensory-changes-in-healthy-subjects
#4
Julia Forstenpointner, Matti Förster, Denisa May, Friederike Hofschulte, Ingolf Cascorbi, Gunnar Wasner, Janne Gierthmühlen, Ralf Baron
BACKGROUND: C-fibers express transient receptor potential (TRP) channels. These high-voltage gated channels function as integrators of different physical stresses (e.g. heat, protons, ATP). Additionally channel activation can be induced by capsaicin. Topically applied, capsaicin elicits burning pain, heat and mechanical hyperalgesia and serves as a human surrogate model for pain. It was suggested that the TRPV1-variant rs8065080 (1911A>G) plays a pivotal role in patients with neuropathic pain syndromes...
2017: PloS One
https://www.readbyqxmd.com/read/28817567/accounting-for-biotic-spatial-variability-in-fields-case-of-resistance-screening-against-sunflower-verticillium-wilt
#5
Hélène Missonnier, Alban Jacques, JiSu Bang, Jean Daydé, Virginie Mirleau-Thebaud
In breeding for disease resistance, the magnitude of the genetic response is difficult to appreciate because of environmental stresses that interact with the plant genotype. We discuss herein the fundamental problems in breeding for disease resistance with the aim being to better understand the interactions between plant, pathogen, and spatial patterns. The goal of this study is to fine tune breeding decisions by incorporating spatial patterns of such biotic factors into the definition of disease-occurrence probability...
2017: PloS One
https://www.readbyqxmd.com/read/28817541/titers-of-antibodies-to-the-surface-antigen-of-hepatitis-b-virus-after-vaccination-in-relation-to-immunity-related-gene-variants-a-prospective-study-among-hemodialysis-patients
#6
Elżbieta Jodłowska-Siewert, Paweł P Jagodziński, Alicja E Grzegorzewska
INTRODUCTION    Hemodialysis (HD) patients show a weaker response to hepatitis B virus (HBV) vaccination than the healthy population. Several gene variants were reported to be associated with the levels of antibodies to HBV surface antigen (anti-HBs) after HBV vaccination among healthy individuals. OBJECTIVES    The aim of the study was to determine the effect of immunity-related genes on the maximum anti-HBs antibody levels after vaccination among HD subjects. PATIENTS AND METHODS    This 6-year prospective study included HD patients who were not infected with HBV and underwent HBV vaccination...
August 9, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28817535/can-prasugrel-decrease-the-extent-of-periprocedural-myocardial-injury-during-elective-pci
#7
Mariusz Tomaniak, Łukasz Kołtowski, Janusz Kochman, Zenon Huczek, Adam Rdzanek, Arkadiusz Pietrasik, Aleksandra Gasecka, Sylwia Gajda, Grzegorz Opolski, Krzysztof J Filipiak
INTRODUCTION    Periprocedural myocardial injury may be associated with an increased risk of cardiovascular events. The evidence on safety and efficacy of more potent P2Y12 antagonists in reduction of periprocedural myocardial injury among patients undergoing elective percutaneous coronary interventions (PCI) with inadequate response to clopidogrel is limited.  OBJECTIVES    The aim of the study was to evaluate the impact of prasugrel on the incidence of periprocedural myocardial injury among patients undergoing elective PCI with inadequate response to clopidogrel diagnosed by point-of-care genotyping and platelet function testing (PFT)...
August 17, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28817413/actn3-r577x-polymorphism-is-associated-with-the-incidence-and-severity-of-injuries-in-professional-football-players
#8
Massidda Myosotis, Voisin Sarah, Culigioni Claudia, Piras Francesco, Cugia Paolo, Yan Xu, Eynon Nir, Carla M Calò
OBJECTIVE: The ACTN3 R577X gene variant results in the absence of the α-actinin-3 protein in ∼18% of humans worldwide and has been associated with athletic performance and increased susceptibility to eccentric muscle damage. The aim of this study was to investigate the association between ACTN3 R577X variant and indirect muscle disorders/injuries in professional football players. DESIGN: A case-control, genotype-phenotype association study. INTERVENTION: Two hundred fifty-seven male professional Italian football players (from Serie A, Primavera, Allievi, and Giovanissimi; age = 21...
August 16, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28817198/valuable-antibody-detection-method-for-classifying-hepatitis-e-virus-genotypes
#9
Chenyan Zhao, Yansheng Geng, Weijing Huang, Hongxia Ma, Youchun Wang
Nucleotide-based methods are conventionally used to classify the hepatitis E virus (HEV) genotypes. A serological enzyme immunoassay (EIA) using open reading frame 3 (ORF3) C-terminal peptides was developed to conveniently and accurately classify and evaluate the genotypes of HEV. The sera of mice immunized with HEV genotype 1, 3 and 4 reacted highly specifically to the peptides of the corresponding genotypes. Most (84.2%) clinical sera infected with HEV genotype 4 were positive for anti-HEV antibodies when tested with the ORF3 peptides of genotype 4, but were negative for genotypes 1 and 3...
August 17, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28817184/the-influence-of-cytomegalovirus-on-expression-of-hla-g-and-its-ligand-kir2dl4-by-human-peripheral-blood-leucocyte-subsets
#10
Zaid Albayati, Ahmed Alyami, Suliman Alomar, Derek Middleton, Laura Bonnett, Sobia Aleem, Brian F Flanagan, Stephen E Christmas
HLA-G is a non-classical class I HLA antigen, normally expressed in high levels only on extravillous cytotrophoblast. It has immunosuppressive properties in pregnancy and has also been found to be upregulated on leucocytes in viral infection. In this study, proportions of all leucocyte subsets expressing HLA-G were found to be low in healthy subjects positive or negative for cytomegalovirus (CMV). Significantly greater proportions of CD4+CD69+ and CD56+ T cells expressed HLA-G compared to other T cells. However, following stimulation with CMV antigens or intact CMV, proportions of CD4+, CD8+, CD69+ and CD56+ T cells, and also B cells expressing HLA-G were significantly increased in CMV+ subjects...
August 17, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28817105/bioactive-compounds-from-mexican-varieties-of-the-common-bean-phaseolus-vulgaris-implications-for-health
#11
REVIEW
Celia Chávez-Mendoza, Esteban Sánchez
As Mexico is located within Mesoamerica, it is considered the site where the bean plant originated and where it was domesticated. Beans have been an integral part of the Mexican diet for thousands of years. Within the country, there are a number of genotypes possessing highly diverse physical and chemical properties. This review describes the major bioactive compounds contained on the Mexican varieties of the common bean. A brief analysis is carried out regarding the benefits they have on health. The effect of seed coat color on the nutraceutical compounds content is distinguished, where black bean stands out because it is high content of anthocyanins, polyphenols and flavonoids such as quercetin...
August 17, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28816939/correlations-of-icam-1-gene-polymorphisms-with-susceptibility-and-multidrug-resistance-in-colorectal-cancer-in-a-chinese-population
#12
Lu-Bing Liu, Tong Liu, Fu-Ze Xin
BACKGROUND: Colorectal cancer (CRC) is a malignant gastrointestinal tumor with a high mortality rate, including both colon and rectal cancer. In order to provide clinical guidance for the treatment of CRC, this study is conducted to investigate the correlations of intercellular adhesion molecule 1 (ICAM-1) gene polymorphisms with susceptibility and multidrug resistance (MDR) of colorectal cancer (CRC). METHODS: A total of 195 patients with CRC were selected as the observation group and 188 healthy people enrolled as the control group...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816920/similar-metabolic-innate-immunity-and-adipokine-profiles-in-adult-and-pediatric-sepsis-versus-systemic-inflammatory-response-syndrome-a-pilot-study
#13
Theonymfi Tavladaki, Anna Maria Spanaki, Helen Dimitriou, Efmorfia Kondili, Christianna Choulaki, Dimitris Georgopoulos, George Briassoulis
OBJECTIVES: To examine whether the septic profiles of heat shock protein 72, heat shock protein 90α, resistin, adiponectin, oxygen consumption, CO2 production, energy expenditure, and metabolic pattern, along with illness severity, nutritional, and inflammatory indices, differ between adult and pediatric patients compared with systemic inflammatory response syndrome and healthy controls. To evaluate whether these biomolecules may discriminate sepsis from systemic inflammatory response syndrome in adult and pediatric patients...
August 12, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28816916/developmental-screening-in-pediatric-sickle-cell-disease-disease-related-risk-and-screening-outcomes-in-4-year-olds
#14
Jeffrey Schatz, Alyssa Schlenz, Laura Reinman, Kelsey Smith, Carla W Roberts
OBJECTIVE: Studies of early child development in sickle cell disease (SCD) have found modest associations between disease-related risks and developmental status in infants and toddlers, but such associations are evident by early elementary school. We screened 4-year-old children with SCD using 2 screening strategies to assess if biomedical risk factors for neurologic disease are related to developmental screening outcomes at this intermediate age. METHODS: Seventy-seven 4-year-old children with SCD (M = 4...
August 4, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
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
#15
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/28816609/evidence-of-diversity-site-and-host-specificity-of-sea-turtle-blood-flukes-digenea-schistosomatoidea-spirorchiidae-a-molecular-prospecting-study
#16
Brian A Stacy, Phoebe A Chapman, Allen M Foley, Ellis C Greiner, Lawrence H Herbst, Alan B Bolten, Paul A Klein, Charles A Manire, Elliott R Jacobson
Neospirorchis (Digenea: "Spirorchiidae") are blood flukes of sea turtles. Trematodes tentatively identified as Neospirorchis sp. infect various sites within sea turtles inhabiting waters of the southeastern United States, but efforts to obtain specimens adequate for morphologic study has proven difficult. Two genetic targets, the internal transcribed spacer region of the ribosomal RNA gene and the partial mitochrondrial cytochrome c oxidase subunit I gene, were used to investigate potential diversity among parasite specimens collected from stranded sea turtles...
August 17, 2017: Journal of Parasitology
https://www.readbyqxmd.com/read/28816583/mammalian-cell-surface-display-for-monoclonal-antibody-based-facs-selection-of-viral-envelope-proteins
#17
Tim-Henrik Bruun, Veronika Grassmann, Benjamin Zimmer, Benedikt Asbach, David Peterhoff, Alexander Kliche, Ralf Wagner
The elicitation of broadly and efficiently neutralizing antibodies in humans by active immunization is still a major obstacle in the development of vaccines against pathogens such as the human immunodeficiency virus (HIV), influenza virus, hepatitis C virus or cytomegalovirus. Here, we describe a mammalian cell surface display and monoclonal antibody (mAb)-mediated panning technology that allows affinity-based selection of envelope (Env) variants from libraries. To this end, we established an experimental setup featuring: 1) single and site specific integration of Env to link genotype and phenotype, 2) inducible Env expression to avoid cytotoxicity effects, 3) translational coupling of Env and enhanced green fluorescent protein expression to normalize for Env protein levels, and 4) display on HEK cells to ensure native folding and mammalian glycosylation...
August 17, 2017: MAbs
https://www.readbyqxmd.com/read/28816579/application-of-the-distance-based-f-test-in-an-mgwas-investigating-beta-diversity-of-intestinal-microbiota-identifies-variants-in-slc9a8-nhe8-and-three-other-loci
#18
Malte C Rühlemann, Frauke Degenhardt, Louise B Thingholm, Jun Wang, Jurgita Skiecevičienė, Philipp Rausch, Johannes R Hov, Wolfgang Lieb, Tom H Karlsen, Matthias Laudes, John F Baines, Femke-Anouska Heinsen, Andre Franke
Factors shaping the human intestinal microbiota range from environmental influences, like smoking and exercise, over dietary patterns and disease to the host's genetic variation. Recently, we could show in a microbiome genome-wide association study (mGWAS) targeting genetic variation influencing the beta diversity of gut microbial communities, that approximately 10% of the overall gut microbiome variation can be explained by host genetics. Here, we report on the application of a new method for genotype-beta-diversity association testing, the distance-based F (DBF) test...
August 17, 2017: Gut Microbes
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
#19
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/28816020/real-world-efficacy-and-safety-of-ombitasvir-paritaprevir-r-dasabuvir-ribavirin-in-genotype-1b-patients-with-hcv-liver-cirrhosis
#20
Carmen Monica Preda, Corneliu Petru Popescu, Cristian Baicus, Theodor Voiosu, Mircea Manuc, Corina Silvia Pop, Liana Gheorghe, Ioan Sporea, Anca Trifan, Marcel Tantau, Alina Tantau, Emanoil Ceausu, Doina Proca, Ileana Constantinescu, Simona Maria Ruta, Mircea Diculescu, Alexandru Oproiu
BACKGROUND: Direct antiviral agents (DAA) showed very good results in terms of efficacy and safety in clinical trials, but real life data are still needed in order to confirm this profile. MATERIAL AND METHODS: In Romania, through a nationwide government-funded programme in 2015-2016, approx.5800 patients with virus C liver cirrhosis received fully reimbursed DAA therapy with OBV/PTV/r+DSV+RBV for 12 weeks. We analysed a national prospective cohort enrolling the first 2070 patients, all with genotype 1b...
August 17, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
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