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https://www.readbyqxmd.com/read/28742850/genes-cells-and-biobanks-yes-there-s-still-a-consent-problem
#1
Timothy Caulfield, Blake Murdoch
From a research perspective, the interest in biobanking continues to intensify. Governments and industry have invested heavily in biobanks, as exemplified by initiatives like the United Kingdom Biobank and United States' Precision Medicine Initiative. But despite this enthusiasm, many profound legal and ethical challenges remain unresolved. Indeed, there continues to be disagreements about how best to obtain consent and the degree and nature of control that research participants retain over donated samples and health information...
July 2017: PLoS Biology
https://www.readbyqxmd.com/read/28741961/iso-tc276-wg2-biobanks-and-bioresources-draft-international-standard-is-now-available-for-comment
#2
Clare M Allocca, Marianna J Bledsoe, Koh Furuta, Nilsa C Ramirez
No abstract text is available yet for this article.
July 25, 2017: Biopreservation and Biobanking
https://www.readbyqxmd.com/read/28738677/quantitation-of-87-proteins-by-nlc-mrm-ms-in-human-plasma-workflow-for-large-scale-analysis-of-biobank-samples
#3
Melinda Rezeli, Karin Sjödin, Henrik Lindberg, Olof Gidlöf, Bertil Lindahl, Tomas Jernberg, Jonas Spaak, David Erlinge, György Marko-Varga
A multiple reaction monitoring (MRM) assay was developed for precise quantitation of 87 plasma proteins including the three isoforms of apolipoprotein E (APOE) associated with cardiovascular diseases using nanoscale liquid chromatography separation and stable isotope dilution strategy. The analytical performance of the assay was evaluated and we found an average technical variation of 4.7 % in 4 - 5 orders of magnitude dynamic range (≈ 0.2 mg/L to 4.5 g/L) from whole plasma digest. Here, we report a complete workflow, including sample processing adapted to 96-well plate format and normalization strategy for large-scale studies...
July 25, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28738458/-associations-between-season-of-birth-and-age-both-at-menarche-and-at-menopause
#4
J H Si, R R Meng, J Lyu, Y Guo, Z Bian, C Q Yu, L Yang, Y L Tan, P Pei, J S Chen, Z M Chen, L M Li
Objective: To examine the associations between season of birth and factors as age at menarche, age at menopause and reproductive span. Methods: A total of 285 186 female from the China Kadoorie Biobank, with complete data on critical variables and had menarche at 9-18 years old, were included. A total of 132 373 female with natural menopause were included for the analysis on age at menopause and reproductive span. Multiple linear regression models were used to assess the associations of birth season and the age at menarche, menopause, and reproductive span...
July 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28736445/dietary-fat-and-total-energy-intake-modifies-the-effect-of-genetic-profile-risk-score-on-obesity-evidence-from-48-170-uk-biobank-participants
#5
C A Celis-Morales, D M Lyall, S Gray, L Steell, J Anderson, S Iliodromiti, P Welsh, Y Guo, F Petermann, D F Mackay, M E S Bailey, J Pell, J M R Gill, N Sattar
BACKGROUND: Obesity is a multifactorial condition influenced by both genetics and lifestyle. The aim of this study was to investigate whether the association between a validated genetic profile risk score for obesity (GPRS-obesity) and body mass index (BMI) or waist circumference (WC) was modified by macronutrient intake in a large general population study. METHODS: This study included cross-sectional data from 48 170 white European adults, aged 37-73 years, participating on the UK Biobank...
July 24, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28733474/persons-with-chronic-widespread-pain-experience-excess-mortality-longitudinal-results-from-uk-biobank-and-meta-analysis
#6
Gary J Macfarlane, Maxwell S Barnish, Gareth T Jones
OBJECTIVE: It is uncertain whether persons with chronic widespread pain (CWP) experience premature mortality. Using the largest study conducted, we determine whether such a relationship exists, estimate its magnitude and establish what factors mediate any relationship. METHODS: UK Biobank, a cohort study of 0.5 million people aged 40-69 years, recruited throughout Great Britain in 2006-2010. Participants reporting 'pain all over the body' for >3 months were compared with persons without chronic pain...
July 21, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28732327/prediagnostic-serum-calcium-and-albumin-and-ovarian-cancer-a-nested-case-control-study-in-the-norwegian-janus-serum-bank-cohort
#7
Gary G Schwartz, Steinar Tretli, Linda Vos, Trude E Robsahm
BACKGROUND: Women with higher serum calcium may be more likely to be diagnosed and die of ovarian cancer. We evaluated that finding in a large, prospective cohort. METHODS: We conducted a nested case-control study using a population-based biobank from Norway. We compared 202 ovarian cancer cases and 202 controls, matched for age, date at blood draw, and county of residence, with respect to serum calcium and albumin, adjusted for anthropometric variables. We evaluated risks using the entire follow-up period as well as 2-15 years and 16-25 years ("early" and "late", respectively)...
July 18, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28732081/il-6-variant-is-associated-with-metastasis-in-breast-cancer-patients
#8
Chike O Abana, Brian S Bingham, Ju Hwan Cho, Amy J Graves, Tatsuki Koyama, Robert T Pilarski, A Bapsi Chakravarthy, Fen Xia
INTRODUCTION: Although tumor metastases remain significant drivers of mortality, the genetic factors that increase the risks of metastases are not fully identified. Interleukin 6 (IL-6) has emerged as an important factor in breast cancer progression with IL-6 single nucleotide polymorphism (SNP) variants shown to affect survival. We hypothesized that SNPs of the IL-6 promoter at rs1800795 in breast cancer patients are associated with distant metastases. METHODS: We performed an initial case-control study using Vanderbilt University Medical Center's BioVU, a genomic biobank linked to de-identified electronic medical records in the Synthetic Derivative database, to identify germline SNPs that may predict the development of metastatic disease to any site from any solid tumor including breast cancer...
2017: PloS One
https://www.readbyqxmd.com/read/28727628/replication-confirms-the-association-of-loci-in-foxe1-pde8b-capzb-and-pde10a-with-thyroid-traits-a-genetics-of-diabetes-audit-and-research-tayside-study
#9
Enrique Soto-Pedre, Moneeza K Siddiqui, Alex S Doney, Colin N A Palmer, Ewan R Pearson, Graham P Leese
OBJECTIVE: Replication of associations in genome-wide association studies is desirable to ensure that such signals are potentially clinically meaningful. This study aimed to replicate associations of selected single-nucleotide polymorphisms (SNPs) with hypothyroidism and serum thyroid-stimulating hormone (TSH) using electronic medical records (EMRs). PATIENTS AND METHODS: A cross-sectional study was carried out among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside recruited in Tayside (Scotland, UK)...
July 19, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28726007/sharing-mutations-are-biobanks-still-required-in-the-post-crispr-cas9-era
#10
Janet Kenyon, Martin D Fray
Cryopreservation is seen as a key aspect of good colony management which supports the drive towards improvements in animal care and the implementation of the 3Rs. However, following the advent of gene editing technologies, the generation of new mouse models is quicker and cheaper than ever before. This has led some to question the future value of biobanks around the world. In the following commentary, we argue that the need to cryopreserve mouse strains and distribute them from well-funded repositories is as strong as it has ever been...
July 18, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28725790/biobanking-budgets-and-the-role-of-pathology-biobanks-in-precision-medicine
#11
Chris Andry, Elizabeth Duffy, Christopher A Moskaluk, Shannon McCall, Michael H A Roehrl, Daniel Remick
Biobanks have become an important component of the routine practice of pathology. At the 2016 meeting of the Association of Pathology Chairs, a series of presentations covered several important aspects of biobanking. An often overlooked aspect of biobanking is the fiscal considerations. A biobank budget must address the costs of consenting, procuring, processing, and preserving high-quality biospecimens. Multiple revenue streams will frequently be necessary to create a sustainable biobank; partnering with other key stakeholders has been shown to be successful at academic institutions which may serve as a model...
January 2017: Acad Pathol
https://www.readbyqxmd.com/read/28723965/the-prevalence-and-metabolic-characteristics-of-polycystic-ovary-syndrome-in-the-qatari-population
#12
Soha R Dargham, Lina Ahmed, Eric S Kilpatrick, Stephen L Atkin
OBJECTIVE: The prevalence of polycystic ovary syndrome (PCOS) in the Qatari population is unknown and hence the estimated impact on the local population cannot be determined. The purpose of this study was to estimate the prevalence and metabolic features of PCOS among Qatari women. DESIGN: Cross sectional analysis. PATIENTS: 3,017 Qatari subjects volunteered to be phenotyped and genotyped for the Qatar Biobank from which all women between the ages of 18-40 years were identified (750)...
2017: PloS One
https://www.readbyqxmd.com/read/28723307/nationwide-comprehensive-gastro-intestinal-cancer-cohorts-the-3p-initiative
#13
R R J Coebergh van den Braak, L B van Rijssen, J J van Kleef, G R Vink, M Berbee, M I van Berge Henegouwen, H J Bloemendal, M J Bruno, M C Burgmans, O R C Busch, P P L O Coene, V M H Coupé, J W T Dekker, C H J van Eijck, M A G Elferink, F L G Erdkamp, W M U van Grevenstein, J W B de Groot, N C T van Grieken, I H J T de Hingh, M C C M Hulshof, J N M Ijzermans, L Kwakkenbos, V E P P Lemmens, M Los, G A Meijer, I Q Molenaar, G A P Nieuwenhuijzen, M E de Noo, L V van de Poll-Franse, C J A Punt, R C Rietbroek, W W H Roeloffzen, T Rozema, J P Ruurda, J W van Sandick, A H W Schiphorst, H Schipper, P D Siersema, M Slingerland, D W Sommeijer, M C W Spaander, M A G Sprangers, H B A C Stockmann, M Strijker, G van Tienhoven, L M Timmermans, M L R Tjin-A-Ton, A M T van der Velden, M J Verhaar, H M Verkooijen, W J Vles, J M P G M de Vos-Geelen, J W Wilmink, D D E Zimmerman, M G H van Oijen, M Koopman, M G H Besselink, H W M van Laarhoven
BACKGROUND: The increasing sub-classification of cancer patients due to more detailed molecular classification of tumors, and limitations of current trial designs, require innovative research designs. We present the design, governance and current standing of three comprehensive nationwide cohorts including pancreatic, esophageal/gastric, and colorectal cancer patients (NCT02070146). Multidisciplinary collection of clinical data, tumor tissue, blood samples, and patient-reported outcome (PRO) measures with a nationwide coverage, provides the infrastructure for future and novel trial designs and facilitates research to improve outcomes of gastrointestinal cancer patients...
July 19, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28717197/subcortical-volume-and-white-matter-integrity-abnormalities-in-major-depressive-disorder-findings-from-uk-biobank-imaging-data
#14
Xueyi Shen, Lianne M Reus, Simon R Cox, Mark J Adams, David C Liewald, Mark E Bastin, Daniel J Smith, Ian J Deary, Heather C Whalley, Andrew M McIntosh
Previous reports of altered grey and white matter structure in Major Depressive Disorder (MDD) have been inconsistent. Recent meta-analyses have, however, reported reduced hippocampal grey matter volume in MDD and reduced white matter integrity in several brain regions. The use of different diagnostic criteria, scanners and imaging sequences may, however, obscure further anatomical differences. In this study, we tested for differences in subcortical grey matter volume (n = 1157) and white matter integrity (n = 1089) between depressed individuals and controls in the subset of 8590 UK Biobank Imaging study participants who had undergone depression assessments...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28714975/association-analyses-based-on-false-discovery-rate-implicate-new-loci-for-coronary-artery-disease
#15
Christopher P Nelson, Anuj Goel, Adam S Butterworth, Stavroula Kanoni, Tom R Webb, Eirini Marouli, Lingyao Zeng, Ioanna Ntalla, Florence Y Lai, Jemma C Hopewell, Olga Giannakopoulou, Tao Jiang, Stephen E Hamby, Emanuele Di Angelantonio, Themistocles L Assimes, Erwin P Bottinger, John C Chambers, Robert Clarke, Colin N A Palmer, Richard M Cubbon, Patrick Ellinor, Raili Ermel, Evangelos Evangelou, Paul W Franks, Christopher Grace, Dongfeng Gu, Aroon D Hingorani, Joanna M M Howson, Erik Ingelsson, Adnan Kastrati, Thorsten Kessler, Theodosios Kyriakou, Terho Lehtimäki, Xiangfeng Lu, Yingchang Lu, Winfried März, Ruth McPherson, Andres Metspalu, Mar Pujades-Rodriguez, Arno Ruusalepp, Eric E Schadt, Amand F Schmidt, Michael J Sweeting, Pierre A Zalloua, Kamal AlGhalayini, Bernard D Keavney, Jaspal S Kooner, Ruth J F Loos, Riyaz S Patel, Martin K Rutter, Maciej Tomaszewski, Ioanna Tzoulaki, Eleftheria Zeggini, Jeanette Erdmann, George Dedoussis, Johan L M Björkegren, Heribert Schunkert, Martin Farrall, John Danesh, Nilesh J Samani, Hugh Watkins, Panos Deloukas
Genome-wide association studies (GWAS) in coronary artery disease (CAD) had identified 66 loci at 'genome-wide significance' (P < 5 × 10(-8)) at the time of this analysis, but a much larger number of putative loci at a false discovery rate (FDR) of 5% (refs. 1,2,3,4). Here we leverage an interim release of UK Biobank (UKBB) data to evaluate the validity of the FDR approach. We tested a CAD phenotype inclusive of angina (SOFT; ncases = 10,801) as well as a stricter definition without angina (HARD; ncases = 6,482) and selected cases with the former phenotype to conduct a meta-analysis using the two most recent CAD GWAS...
July 17, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28714974/genetic-analysis-in-uk-biobank-links-insulin-resistance-and-transendothelial-migration-pathways-to-coronary-artery-disease
#16
Derek Klarin, Qiuyu Martin Zhu, Connor A Emdin, Mark Chaffin, Steven Horner, Brian J McMillan, Alison Leed, Michael E Weale, Chris C A Spencer, François Aguet, Ayellet V Segrè, Kristin G Ardlie, Amit V Khera, Virendar K Kaushik, Pradeep Natarajan, Sekar Kathiresan
UK Biobank is among the world's largest repositories for phenotypic and genotypic information in individuals of European ancestry. We performed a genome-wide association study in UK Biobank testing ∼9 million DNA sequence variants for association with coronary artery disease (4,831 cases and 115,455 controls) and carried out meta-analysis with previously published results. We identified 15 new loci, bringing the total number of loci associated with coronary artery disease to 95 at the time of analysis. Phenome-wide association scanning showed that CCDC92 likely affects coronary artery disease through insulin resistance pathways, whereas experimental analysis suggests that ARHGEF26 influences the transendothelial migration of leukocytes...
July 17, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28712995/investigations-into-within-and-between-subject-resting-state-amplitude-variations
#17
Janine Bijsterbosch, Samuel Harrison, Eugene Duff, Fidel Alfaro-Almagro, Mark Woolrich, Stephen Smith
The amplitudes of spontaneous fluctuations in brain activity may be a significant source of within-subject and between-subject variability, and this variability is likely to be carried through into functional connectivity (FC) estimates (whether directly or indirectly). Therefore, improving our understanding of amplitude fluctuations over the course of a resting state scan and variation in amplitude across individuals is of great relevance to the interpretation of FC findings. We investigate resting state amplitudes in two large-scale studies (HCP and UK Biobank), with the aim of determining between-subject and within-subject variability...
July 13, 2017: NeuroImage
https://www.readbyqxmd.com/read/28712126/evidence-of-an-abnormal-epithelial-barrier-in-active-untreated-and-corticosteroid-treated-eosinophilic-esophagitis
#18
Dagmar Simon, Basile Page, Monique Vogel, Christian Bussmann, Carine Blanchard, Alex Straumann, Hans-Uwe Simon
BACKGROUND: Eosinophilic esophagitis (EoE) is a chronic, immune/antigen-mediated disease characterized by symptoms related to esophageal dysfunction and an eosinophil-predominant inflammation. This study has aimed to investigate whether the recently observed sensitization to Candida albicans in EoE patients is owing to pre-existing disease and its underlying abnormal epithelial barrier or, alternatively, is linked to corticosteroid (CS) therapy. METHODS: Medical histories, as well as serum and tissue samples of 60 EoE patients (15 CS-naive, 45 with current or previous CS therapy) and 20 controls, stored in the Swiss Eosinophilic Esophagitis Database (SEED) and Biobank, were analyzed...
July 16, 2017: Allergy
https://www.readbyqxmd.com/read/28706094/ventilatory-function-as-a-predictor-of-mortality-in-lifelong-non-smokers-evidence-from-large-british-cohort-studies
#19
Ramyani P Gupta, David P Strachan
BACKGROUND: Reduced ventilatory function is an established predictor of all-cause mortality in general population cohorts. We sought to verify this in lifelong non-smokers, among whom confounding by active smoking can be excluded, and investigate associations with circulatory and cancer deaths. METHODS: In UK Biobank, among 149 343 white never-smokers aged 40-69 years at entry, 2401 deaths occurred over a mean of 6.5-year follow-up. In the Health Surveys for England (HSE) 1995, 1996, 2001 and Scottish Health Surveys (SHS) 1998 and 2003 combined, there were 500 deaths among 6579 white never-smokers aged 40-69 years at entry, followed for a mean of 13...
July 12, 2017: BMJ Open
https://www.readbyqxmd.com/read/28705151/cost-and-yield-considerations-when-expanding-recruitment-for-genetic-studies-the-primary-open-angle-african-american-glaucoma-genetics-study
#20
Rebecca Salowe, Laura O'Keefe, Sayaka Merriam, Roy Lee, Naira Khachatryan, Prithvi Sankar, Eydie Miller-Ellis, Amanda Lehman, Victoria Addis, Windell Murphy, Jeffrey Henderer, Maureen Maguire, Joan O'Brien
BACKGROUND: African Americans have been historically under-represented in genetic studies. More research is needed on effective recruitment strategies for this population, especially on approaches that supplement traditional clinic enrollment. This study evaluates the cost and efficacy of four supplemental recruitment methods employed by the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study. METHODS: After enrolling 2304 patients from University of Pennsylvania ophthalmology clinics, the POAAGG study implemented four new recruitment methods to supplement clinic enrollment...
July 14, 2017: BMC Medical Research Methodology
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