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https://www.readbyqxmd.com/read/28811201/the-unmet-need-in-rheumatology-reports-from-the-targeted-therapies-meeting-2017
#1
Kevin L Winthrop, Vibeke Strand, Désirée van der Heijde, Philip Mease, Mary Crow, Michael Weinblatt, Joan Bathon, Gerd R Burmester, Maxime Dougados, Johnathan Kay, Xavier Mariette, Ronald Van Vollenhoven, Joachim Sieper, Fritz Melchers, Ferdinand C Breedfeld, Joachim Kalden, Josef S Smolen, Daniel E Furst
The 19th annual international Targeted Therapies meeting brought together over 100 leading basic scientists and clinical researchers from around the world in the field of immunology, molecular biology and rheumatology and other specialties. During the meeting, breakout sessions were held consisting of 5 disease-specific groups with 20-40 experts assigned to each group based on clinical or scientific expertise. Specific groups included: rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis, systemic lupus erythematous, connective tissue diseases (e...
August 12, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28809859/do-regional-brain-volumes-and-major-depressive-disorder-share-genetic-architecture-a-study-of-generation-scotland-n-19%C3%A2-762-uk-biobank-n-24%C3%A2-048-and-the-english-longitudinal-study-of-ageing-n-5766
#2
E M Wigmore, T-K Clarke, D M Howard, M J Adams, L S Hall, Y Zeng, J Gibson, G Davies, A M Fernandez-Pujals, P A Thomson, C Hayward, B H Smith, L J Hocking, S Padmanabhan, I J Deary, D J Porteous, K K Nicodemus, A M McIntosh
Major depressive disorder (MDD) is a heritable and highly debilitating condition. It is commonly associated with subcortical volumetric abnormalities, the most replicated of these being reduced hippocampal volume. Using the most recent published data from Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium's genome-wide association study of regional brain volume, we sought to test whether there is shared genetic architecture between seven subcortical brain volumes and intracranial volume (ICV) and MDD...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28806491/the-association-between-dysregulated-adipocytokines-in-early-pregnancy-and-development-of-gestational-diabetes
#3
Sally K Abell, Soulmaz Shorakae, Cheryce L Harrison, Danielle Hiam, Alba Moreno-Asso, Nigel K Stepto, Barbora De Courten, Helena J Teede
BACKGROUND: To investigate the association of adipocytokines and other inflammatory markers with development of GDM. METHODS: Serum adipocytokines and inflammatory markers were studied at 12-15 weeks gestation using biobanked control samples from a randomised trial. Study participants were identified as high risk for GDM using a validated clinical risk prediction tool. Markers were tested using commercial ELISA kits for high molecular weight (HMW) adiponectin, interleukin-6 (IL-6), plasminogen activator inhibitor-1, visfatin, omentin-1, sex-hormone binding globulin, monocyte chemoattractant protein and asymmetrical dimethylarginine...
August 14, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28803222/biobanking-in-the-subcontinent-exploring-concerns
#4
Aamir M Jafarey, Sualeha Siddiq Shekhani, Bushra Shirazi
Biobanking is an important tool for biomedical research. However, it raises a variety of ethical issues, which are compounded in the developing world. This paper is based on data from three sources on the ethical issues associated with biobanking, including a mixed method pilot study conducted with students in Karachi, Pakistan, a workshop in Karachi, and another workshop held in Bengaluru, India. Findings from these sources reveal a unanimous lack of clarity about what constitutes a biobank. While informed consent was deemed necessary for storage of materials, participants were unsure of how this could be achieved for samples stored indefinitely for future research...
July 11, 2017: Indian Journal of Medical Ethics
https://www.readbyqxmd.com/read/28803050/the-arest-cf-experience-in-biobanking-more-than-just-tissues-tubes-and-time
#5
Luke W Garratt, Anthony Kicic, Colin Robertson, Sarath Ranganathan, Peter D Sly, Stephen M Stick
Research to further improve outcomes for people with CF is dependent upon well characterised, archived and accessible clinical specimens. The recent article by Beekman et al. published in Journal of Cystic Fibrosis summarised a scientific meeting at the 13th ECFS Basic Science Conference. This meeting discussed how well-annotated, clinical biobanks for CF could be established in Europe to meet the needs of therapeutic development. The Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST CF) has conducted biobanking of CF research and clinical specimens since the late 1990s and is custodian of the most comprehensive paediatric CF biobank in the world that focuses on the first years of life...
August 9, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28801429/multicentric-randomised-study-of-helicobacter-pylori-eradication-and-pepsinogen-testing-for-prevention-of-gastric-cancer-mortality-the-gistar-study
#6
Marcis Leja, Jin Young Park, Raul Murillo, Inta Liepniece-Karele, Sergejs Isajevs, Ilze Kikuste, Dace Rudzite, Petra Krike, Sergei Parshutin, Inese Polaka, Arnis Kirsners, Daiga Santare, Valdis Folkmanis, Ilva Daugule, Martyn Plummer, Rolando Herrero
INTRODUCTION: Population-based eradication of Helicobacter pylori has been suggested to be cost-effective and is recommended by international guidelines. However, the potential adverse effects of widespread antibiotic use that this would entail have not been sufficiently studied. An alternative way to decrease gastric cancer mortality is by non-invasive search for precancerous lesions, in particular gastric atrophy; pepsinogen tests are the best currently available alternative. The primary objective of GISTAR is to determine whether H pylori eradication combined with pepsinogen testing reduces mortality from gastric cancer among 40-64-year-old individuals...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28795158/replication-and-characterization-of-cadm2-and-msra-genes-on-human-behavior
#7
Brian Boutwell, David Hinds, Jorim Tielbeek, Ken K Ong, Felix R Day, John R B Perry
Progress identifying the genetic determinants of personality has historically been slow, with candidate gene studies and small-scale genome-wide association studies yielding few reproducible results. In the UK Biobank study, genetic variants in CADM2 and MSRA were recently shown to influence risk taking behavior and irritability respectively, representing some of the first genomic loci to be associated with aspects of personality. We extend this observation by performing a personality "phenome-scan" across 16 traits in up to 140,487 participants from 23andMe for these two genes...
July 2017: Heliyon
https://www.readbyqxmd.com/read/28794501/population-based-biobank-participants-preferences-for-receiving-genetic-test-results
#8
Kayono Yamamoto, Tsuyoshi Hachiya, Akimune Fukushima, Naoki Nakaya, Akira Okayama, Kozo Tanno, Fumie Aizawa, Tomoharu Tokutomi, Atsushi Hozawa, Atsushi Shimizu
There are ongoing debates on issues relating to returning individual research results (IRRs) and incidental findings (IFs) generated by genetic research in population-based biobanks. To understand how to appropriately return genetic results from biobank studies, we surveyed preferences for returning IRRs and IFs among participants of the Tohoku Medical Megabank Project (TMM). We mailed a questionnaire to individuals enrolled in the TMM cohort study (Group 1; n=1031) and a group of Tohoku region residents (Group 2; n=2314)...
August 10, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28793990/independent-and-joint-associations-of-grip-strength-and-adiposity-with-all-cause-and-cardiovascular-disease-mortality-in-403-199-adults-the-uk-biobank-study
#9
Youngwon Kim, Katrien Wijndaele, Duck-Chul Lee, Stephen J Sharp, Nick Wareham, Soren Brage
Background: Higher grip strength (GS) is associated with lower mortality risk. However, whether this association is independent of adiposity is uncertain.Objective: The purpose of this study was to examine the associations between GS, adiposity, and mortality.Design: The UK Biobank study is an ongoing prospective cohort of >0.5 million UK adults aged 40-69 y. Baseline data collection (2006-2010) included measurements of GS and adiposity indicators, including body mass index (BMI; in kg/m(2)). Age- and sex-specific GS quintiles were used...
August 9, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28793914/performance-of-gout-definitions-for-genetic-epidemiological-studies-analysis-of-uk-biobank
#10
Murray Cadzow, Tony R Merriman, Nicola Dalbeth
BACKGROUND: Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. METHODS: This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease...
August 9, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28793181/associations-of-coffee-genetic-risk-scores-with-consumption-of-coffee-tea-and-other-beverages-in-the-uk-biobank
#11
Amy E Taylor, George Davey Smith, Marcus R Munafò
AIMS: To evaluate the utility of coffee-related genetic variants as proxies for coffee consumption in Mendelian randomisation studies, by examining their association with non-alcoholic beverage consumption (including subtypes of coffee and tea) and a range of sociodemographic and lifestyle factors. DESIGN: Observational study of the association of genetic risk scores for coffee consumption with different types of non-alcoholic beverage consumption. SETTING: UK general population PARTICIPANTS: Individuals of European ancestry aged 40-70 years from the UK Biobank between 2006 and 2010 (N = 114,316)...
August 9, 2017: Addiction
https://www.readbyqxmd.com/read/28792843/the-final-common-rule-implications-for-biobanks
#12
Marianna J Bledsoe
No abstract text is available yet for this article.
August 2017: Biopreservation and Biobanking
https://www.readbyqxmd.com/read/28789618/genome-wide-copy-number-variation-analysis-identified-deletions-in-sfmbt1-associated-with-fasting-plasma-glucose-in-a-han-chinese-population
#13
Ren-Hua Chung, Yen-Feng Chiu, Yi-Jen Hung, Wen-Jane Lee, Kwan-Dun Wu, Hui-Ling Chen, Ming-Wei Lin, Yii-Der I Chen, Thomas Quertermous, Chao A Hsiung
BACKGROUND: Fasting glucose and fasting insulin are glycemic traits closely related to diabetes, and understanding the role of genetic factors in these traits can help reveal the etiology of type 2 diabetes. Although single nucleotide polymorphisms (SNPs) in several candidate genes have been found to be associated with fasting glucose and fasting insulin, copy number variations (CNVs), which have been reported to be associated with several complex traits, have not been reported for association with these two traits...
August 8, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28783203/cumulative-occupational-mechanical-exposures-during-working-life-and-risk-of-sickness-absence-and-disability-pension-prospective-cohort-study
#14
Emil Sundstrup, Åse Marie Hansen, Erik Lykke Mortensen, Otto Melchior Poulsen, Thomas Clausen, Reiner Rugulies, Anne Møller, Lars L Andersen
Objectives The aim of this study was to determine the prospective association of cumulative mechanical exposure during working life with health-related labor market outcomes. Methods This prospective cohort study combines data from 5076 older workers (age 49-63 years) from the Copenhagen Aging and Midlife Biobank with a job exposure matrix and a national register containing information on social transfer payment. By coding individual job histories from the Danish version of ISCO-codes (International Standard Classification of Occupations), we calculated cumulative occupational mechanical exposures from a JEM for ton-years (lifting 1000 kg each day in one year), lifting-years (lifting loads weighing ≥20 kg >10 times each day in one year), kneeling-years (kneeling for one hour each day in one year) and vibration-years (whole-body vibration for one hour each day in one year)...
August 7, 2017: Scandinavian Journal of Work, Environment & Health
https://www.readbyqxmd.com/read/28774809/towards-diversity-in-genomics-the-emergence-of-neurogenomics-in-africa
#15
Emmanuel Quansah, Nathaniel W McGregor
There is a high burden of mental and neurological disorders in Africa. Nevertheless, there appears to be an under-representation of African ancestry populations in large-scale genomic studies. Here, we evaluated the extent of under-representation of Africans in neurogenomic studies in the GWAS Catalog. We found 569 neurogenomic studies, of which 88.9% were exclusively focused on people with European ancestry and the remaining 11.1% having African ancestry cases included. In terms of population, only 1.2% of the total populations involved in these 569 GWAS studies were of African descent...
August 1, 2017: Genomics
https://www.readbyqxmd.com/read/28768751/loss-of-y-chromosome-in-blood-is-associated-with-major-cardiovascular-events-during-follow-up-in-men-after-carotid-endarterectomy
#16
Saskia Haitjema, Daniel Kofink, Jessica van Setten, Sander W van der Laan, Arjan H Schoneveld, James Eales, Maciej Tomaszewski, Saskia C A de Jager, Gerard Pasterkamp, Folkert W Asselbergs, Hester M den Ruijter
BACKGROUND: Recent studies found an immune regulatory role for Y chromosome and a relationship between loss of Y chromosome (LOY) in blood cells and a higher risk of cancer and mortality. Given involvement of immune cells in atherosclerosis, we hypothesized that LOY is associated with the severity of atherosclerotic plaque characteristics and outcome in men undergoing carotid endarterectomy. METHODS AND RESULTS: LOY was quantified in blood and plaque from raw intensity genotyping data in men within the Athero-Express biobank study...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28768734/human-tissue-models-in-cancer-research-looking-beyond-the-mouse
#17
EDITORIAL
Samuel J Jackson, Gareth J Thomas
Mouse models, including patient-derived xenograft mice, are widely used to address questions in cancer research. However, there are documented flaws in these models that can result in the misrepresentation of human tumour biology and limit the suitability of the model for translational research. A coordinated effort to promote the more widespread development and use of 'non-animal human tissue' models could provide a clinically relevant platform for many cancer studies, maximising the opportunities presented by human tissue resources such as biobanks...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28767437/rs2841277-pld4-is-associated-with-susceptibility-and-rs4672495-is-associated-with-disease-activity-in-rheumatoid-arthritis
#18
Wei-Chiao Chen, Wen-Chang Wang, Hsing-Fang Lu, Yukinori Okada, Wei-Pin Chang, Yii-Her Chou, Hui-Hua Chang, Jin-Ding Huang, Der-Yuan Chen, Wei-Chiao Chang
Rheumatoid arthritis (RA) is one of the most common autoimmune diseases, can lead to long-term joint damage, chronic pain, and loss of motor function in the hands, and may share some common genetic factors with other autoimmune disorders, such as ankylosing spondylitis (AS). Many single-nucleotide polymorphisms (SNPs) were reported by genome-wide association studies (GWASs) of RA, but some of them have not been examined in the Taiwanese population. In this study, for 15 SNPs reported in previous RA and AS GWASs, we investigated their association with RA in a Taiwanese population...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28765068/5-trna-halves-are-dysregulated-in-clear-cell-renal-cell-carcinoma
#19
Chenming Zhao, Yuri Tolkach, Doris Schmidt, Glen Kristiansen, Stefan C Müller, Jörg Ellinger
PURPOSE: tRNA fragments are dysregulated in various malignancies. Our study was designed to determine the expression of four 5'-tRNA-halves in tissue and serum of clear cell renal cell carcinoma (ccRCC) patients. MATERIALS AND METHODS: Tissue and serum samples of patients with ccRCC and non-malignant disease were collected prospectively in our Biobank. We isolated total RNA from 95 ccRCC and 50 normal renal tissues as well as serum RNA from 27 patients with ccRCC and 13 with non-malignant urological diseases...
July 29, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28759005/bayesian-analysis-of-genetic-association-across-tree-structured-routine-healthcare-data-in-the-uk-biobank
#20
Adrian Cortes, Calliope A Dendrou, Allan Motyer, Luke Jostins, Damjan Vukcevic, Alexander Dilthey, Peter Donnelly, Stephen Leslie, Lars Fugger, Gil McVean
Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics...
July 31, 2017: Nature Genetics
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