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https://www.readbyqxmd.com/read/28723965/the-prevalence-and-metabolic-characteristics-of-polycystic-ovary-syndrome-in-the-qatari-population
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28705149/f-treegc-a-questionnaire-based-family-tree-creation-software-for-genetic-counseling-and-genome-cohort-studies
#10
Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya, Atsushi Shimizu
BACKGROUND: The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas affected by the Great East Japan Earthquake. We collected medical and genomic information for developing a biobank to be used for this healthcare system. We designed a questionnaire-based pedigree-creation software program named "f-treeGC," which enables even less experienced medical practitioners to accurately and rapidly collect family health history and create pedigree charts...
July 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28696997/number-of-offspring-and-cardiovascular-disease-risk-in-men-and-women-the-role-of-shared-lifestyle-characteristics
#11
Maria C Magnus, Stamatina Iliodromiti, Debbie A Lawlor, Janet M Catov, Scott M Nelson, Abigail Fraser
BACKGROUND: Previous studies of the number of offspring and cardiovascular disease (CVD) report conflicting findings. We re-examined this association in both sexes to clarify the role of the cardiometabolic changes that women experience during pregnancy versus shared lifestyle characteristics. METHODS: We studied 180,626 women and 133,259 men participating in the UK Biobank cohort who were free of CVD at baseline. CVD events were obtained from hospital and death registers...
July 10, 2017: Epidemiology
https://www.readbyqxmd.com/read/28696386/analytic-and-diagnostic-performances-of-human-papillomavirus-e6-e7-mrna-test-on-up-to-11-year-old-liquid-based-cervical-samples-a-biobank-based-longitudinal-study
#12
Roberta Zappacosta, Francesca Sablone, Lucia Pansa, Davide Buca, Danilo Buca, Sandra Rosini
Human Papillomavirus (HPV) E6/E7 mRNA test demonstrated high specificity in detecting HPV infections, but studies assessing its efficacy in terms of cancer risk stratification are lacking. Follow-up studies are arduous and expensive. Biobank would be the answer to the problem, although data investigating the effects of long-term storage on RNA preservation are still needed. We addressed these issues by retrieving 202 residual liquid-based cervical specimens, collected from 149 women attending cervical cancer screening during the years 2001-2012...
July 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28695551/cohort-profile-the-kilombero-and-ulanga-antiretroviral-cohort-kiularco-a-prospective-hiv-cohort-in-rural-tanzania
#13
Emilio Letang, Aneth Vedastus Kalinjuma, Tracy R Glass, Anna Gamell, Herry Mapesi, George Rocky Sikalengo, Lameck Bonaventure Luwanda, Dorcas Mnzava, Alex J Ntamatungiro, Regina Ndaki, Gideon Francis, Fiona Vanobberghen, Hansjakob Furrer, Thomas Klimkait, Ingrid Felger, Marcel Tanner, Christoph Hatz, Maja Weisser, Manuel Battegay, Kiularco Study Group
BACKGROUND: The Kilombero and Ulanga Antiretroviral Cohort (KIULARCO) is a single-site, open and ongoing prospective cohort of people living with human immunodeficiency virus (PLWHIV) established in 2005 at the Chronic Diseases Clinic of Ifakara (CDCI), within the Saint Francis Referral Hospital (SFRH) in Ifakara, Tanzania. The objectives of KIULARCO are to (i) provide patient and cohort-level information on the outcomes of HIV treatment; (ii) provide cohort-level information on opportunistic infections and comorbidities; (iii) evaluate aspects of human immunodeficiency virus (HIV) care and treatment that have national or international policy relevance; (iv) provide a platform for studies on improving HIV care and treatment in sub-Saharan Africa; and (v) contribute to generating local capacity to deal with the challenges posed by the HIV/AIDS pandemic in this region...
July 11, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28695548/design-of-the-swiss-atrial-fibrillation-cohort-study-swiss-af-structural-brain-damage-and-cognitive-decline-among-patients-with-atrial-fibrillation
#14
David Conen, Nicolas Rodondi, Andreas Mueller, Juerg Beer, Angelo Auricchio, Peter Ammann, Daniel Hayoz, Richard Kobza, Giorgio Moschovitis, Dipen Shah, Juerg Schlaepfer, Jan Novak, Marcello di Valentino, Paul Erne, Christian Sticherling, Leo Bonati, Georg Ehret, Laurent Roten, Urs Fischer, Andreas Monsch, Christoph Stippich, Jens Wuerfel, Matthias Schwenkglenks, Michael Kuehne, Stefan Osswald
BACKGROUND: Several studies found that patients with atrial fibrillation (AF) have an increased risk of cognitive decline and dementia over time. However, the magnitude of the problem, associated risk factors and underlying mechanisms remain unclear. METHODS: This article describes the design and methodology of the Swiss Atrial Fibrillation (Swiss-AF) Cohort Study, a prospective multicentre national cohort study of 2400 patients across 13 sites in Switzerland. Eligible patients must have documented AF...
July 11, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28689704/glycated-hemoglobin-albuminuria-and-surrogate-markers-of-macrovascular-disease-the-guangzhou-biobank-cohort-study-cardiovascular-disease-subcohort
#15
Konstantinos A Toulis, Chao Q Jiang, Karla Hemming, Krishnarajah Nirantharakumar, Kar K Cheng, Tai H Lam, G Neil Thomas
OBJECTIVES: To explore the clinical utility of glycated hemoglobin (A1C) levels as an early marker of albuminuria, macrovascular disease and subclinical cardiovascular disease in comparison to fasting and postprandial glucose levels in a well-characterized Chinese population with no history of diabetes. METHODS: The study population consisted of 1223 individuals who were enrolled in the Guangzhou Biobank Cohort Study, Cardiovascular Disease Subcohort, and who had undergone oral glucose tolerance tests...
July 6, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28688202/influence-of-human-leukocyte-antigen-hla-alleles-and-killer-cell-immunoglobulin-like-receptors-kir-types-on-heparin-induced-thrombocytopenia-hit
#16
Jason H Karnes, Christian M Shaffer, Robert Cronin, Lisa Bastarache, Silvana Gaudieri, Ian James, Rebecca Pavlos, Heidi Steiner, Jonathan D Mosley, Simon Mallal, Joshua C Denny, Elizabeth J Phillips, Dan M Roden
OBJECTIVES: Heparin-induced thrombocytopenia (HIT) is an unpredictable, life-threatening, immune-mediated reaction to heparin. Variation in human leukocyte antigen (HLA) genes is now used to prevent immune-mediated adverse drug reactions. Combinations of HLA alleles and killer cell immunoglobulin-like receptors (KIR) are associated with multiple autoimmune diseases and infections. The objective of this study is to evaluate the association of HLA alleles and KIR types, alone or in the presence of different HLA ligands, with HIT...
July 8, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28686333/ehealth-provides-a-novel-opportunity-to-exploit-the-advantages-of-the-nordic-countries-in-psychiatric-genetic-research-building-on-the-public-health-care-system-biobanks-and-registries
#17
REVIEW
Ole A Andreassen
Nordic countries have played an important role in the recent progress in psychiatric genetics, both with large well-characterized samples and expertise. The Nordic countries have research advantages due to the organization of their societies, including system of personal identifiers, national health registries with information about diseases, treatment and prescriptions, and a public health system with geographical catchment areas. For psychiatric genetic research, the large biobanks and population surveys are a unique added value...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28685491/the-prevalence-of-pmm2-cdg-in-estonia-based-on-population-carrier-frequencies-and-diagnosed-patients
#18
Mari-Anne Vals, Sander Pajusalu, Mart Kals, Reedik Mägi, Katrin Õunap
PMM2-CDG (MIM#212065) is the most common type of congenital disorders of glycosylation (CDG) caused by mutations in PMM2 (MIM#601785). In Estonia, five patients from three families have been diagnosed with PMM2-CDG. Our aim was to evaluate the presence of different PMM2-CDG-causing mutations in a population-based cohort and to calculate the expected frequency of PMM2-CDG in Estonia. Also, we analyzed the prevalence of PMM2-CDG based on our patient group data. To calculate the expected frequency of PMM2-CDG, we used the whole genome sequencing data of 2,244 participants from biobank of the Estonian Genome Center, University of Tartu...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28683736/security-controls-in-an-integrated-biobank-to-protect-privacy-in-data-sharing-rationale-and-study-design
#19
Takako Takai-Igarashi, Kengo Kinoshita, Masao Nagasaki, Soichi Ogishima, Naoki Nakamura, Sachiko Nagase, Satoshi Nagaie, Tomo Saito, Fuji Nagami, Naoko Minegishi, Yoichi Suzuki, Kichiya Suzuki, Hiroaki Hashizume, Shinichi Kuriyama, Atsushi Hozawa, Nobuo Yaegashi, Shigeo Kure, Gen Tamiya, Yoshio Kawaguchi, Hiroshi Tanaka, Masayuki Yamamoto
BACKGROUND: With the goal of realizing genome-based personalized healthcare, we have developed a biobank that integrates personal health, genome, and omics data along with biospecimens donated by volunteers of 150,000. Such a large-scale of data integration involves obvious risks of privacy violation. The research use of personal genome and health information is a topic of global discussion with regard to the protection of privacy while promoting scientific advancement. The present paper reports on our plans, current attempts, and accomplishments in addressing security problems involved in data sharing to ensure donor privacy while promoting scientific advancement...
July 6, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28683661/an-efficient-sampling-strategy-for-selection-of-biobank-samples-using-risk-scores
#20
Jonas Björk, Ebba Malmqvist, Lars Rylander, Anna Rignell-Hydbom
AIM: The aim of this study was to suggest a new sample-selection strategy based on risk scores in case-control studies with biobank data. METHODS: An ongoing Swedish case-control study on fetal exposure to endocrine disruptors and overweight in early childhood was used as the empirical example. Cases were defined as children with a body mass index (BMI) ⩾18 kg/m(2) ( n=545) at four years of age, and controls as children with a BMI of ⩽17 kg/m(2) ( n=4472 available)...
July 2017: Scandinavian Journal of Public Health
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