Search results for "Biobank"

showing 10 items of 31 documents

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

2020

Abstract Background Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. Methods To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loc…

0301 basic medicinegenetic structures610 MedizinGenome-wide association studyMacular Degeneration0302 clinical medicineAdvanced diseaseCD46Genetics (clinical)GeneticsInternational AMD genomics consortium (IAMDGC)ddc:6100303 health sciencesGenome-wide association study (GWAS)3. Good health030220 oncology & carcinogenesisAge-related macular degeneration (AMD)Meta-analysisResearch ArticleGenetic Markerslcsh:Internal medicineUK biobank (UKBB)lcsh:QH426-470Locus (genetics)GenomicsComputational biologyBiologyPolymorphism Single NucleotideGenome-wide association study (GWAS) Meta-analysis Age-related macular degeneration (AMD) Early AMD CD46 TYR International AMD genomics consortium (IAMDGC) UK biobank (UKBB) Machine-learning Automated phenotyping03 medical and health sciencesEarly AMDGeneticsmedicineHumansGenetic Predisposition to DiseaseGenome-wide Association Study (gwas) ; Meta-analysis ; Age-related Macular Degeneration (amd) ; Early Amd ; Cd46 ; Tyr ; International Amd Genomics Consortium (iamdgc) ; Uk Biobank (ukbb) ; Machine-learning ; Automated Phenotypinglcsh:RC31-1245Machine-learning030304 developmental biologyTYRCD46Macular degenerationmedicine.diseaseHuman geneticseye diseasesGenetic architectureMeta-analysislcsh:Genetics030104 developmental biologyGenetic LociCase-Control StudiesAutomated phenotypingHTRA1030221 ophthalmology & optometrysense organsGenome-Wide Association Study
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Lungscape: Resected Non–Small-Cell Lung Cancer Outcome by Clinical and Pathological Parameters

2014

INTRODUCTION: The Lungscape project was designed to address the impact of clinical, pathological, and molecular characteristics on outcome in resected non-small- cell lung cancer (NSCLC).MATERIALS AND METHODS: A decentralized biobank with fully annotated tissue samples was established. Selection criteria for participating centers included sufficient number of cases, tissue microarray building capability, and documented ethical approval. Patient selection was based on availability of comprehensive clinical data, radical resection between 2003 and 2009 with adequate follow-up, and adequate quantity and quality of formalin-fixed tissue.RESULTS: Fifteen centers contributed 2449 cases. The 5-yea…

AdultMalePulmonary and Respiratory MedicineOncologymedicine.medical_specialtyLung NeoplasmsMultivariate analysis10255 Clinic for Thoracic Surgery610 Medicine & healthNSCLCOutcome (game theory)Patients’ and pathological characteristicsYoung AdultCarcinoma Non-Small-Cell LungInternal medicinemedicineHumansPatients' and pathological characteristicsYoung adultLung cancerPathologicalAgedOutcomeAged 80 and overTNM stageTissue microarraybusiness.industryMiddle Agedmedicine.diseaseBiobankSurgeryTreatment OutcomeOncologyAnnotated Tissue2740 Pulmonary and Respiratory Medicine10032 Clinic for Oncology and Hematology2730 OncologyFemaleSurgerybusinessJournal of Thoracic Oncology
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Prognostic Relevance of Cardiorespiratory Fitness as Assessed by Submaximal Exercise Testing for All-Cause Mortality: A UK Biobank Prospective Study

2020

Objective: To investigate if the inverse associations of cardiorespiratory fitness (CRF) with all-cause and cardiovascular mortality in the general population vary among individuals who are at different pre-test risk. Patients and Methods: CRF was assessed through submaximal bike tests in 58,892 participants aged 40-69 years who completed baseline questionnaires between January 1, 2006 and December 31, 2010 in the UK Biobank study. Participants were categorized into risk categories, which determined allocation to an individualized bike protocol. These were “minimal risk (1)”, “small risk (2)” and “medium risk (3)” groups (i.e., those who cycled at 50%, 35% of predicted maximal workload and …

AdultMaleUK Biobankmedicine.medical_specialtyDatabases FactualPopulationsubmaximal testRisk AssessmentMetabolic equivalentrisk predictionInterquartile rangeCause of DeathInternal medicinemedicineHumansProspective StudiesProspective cohort studyeducationAgedBiological Specimen Bankseducation.field_of_studycardiorespiratory fitnessFramingham Risk Scorebusiness.industryHazard ratioCardiorespiratory fitnessGeneral MedicineMiddle AgedPrognosisUnited KingdomCardiorespiratory FitnessCardiovascular DiseasesExercise Testall-cause mortalityFemaleRisk assessmentbusinessMayo Clinic Proceedings
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Neurological diseases and COVID-19: prospective analyses using the UK Biobank

2021

COVID-19 (Coronavirus disease-19) may present with neurological signs, but whether people already affected by neurological conditions are at a higher risk of contracting COVID-19 is still not known. We, therefore, aimed to investigate the association of previously diagnosed neurological conditions with COVID-19. 502,536 community-dwelling UK Biobank participants (54.4% male, mean age 56.6 ± 10.3 years) were included. Among these, 57,463 participants had a diagnosis of neurological conditions (11.43%) and a total of 1326 COVID-19-positive cases were identified (0.26%). Neurological conditions were identified through medical history and linkage to data on hospital admissions (ICD-10 code G00–…

AdultMalemedicine.medical_specialtyUK BiobankNeurologyMovement disordersPopulationLogistic regressionCOVID-19 · Neurological conditions · UK Biobank.Cerebral palsy03 medical and health sciences0302 clinical medicineInternal medicineMedicineHumansMedical history030212 general & internal medicineProspective StudiesProspective cohort studyeducationAgedBiological Specimen Bankseducation.field_of_studybusiness.industryCOVID-19General MedicineOdds ratioMiddle Agedmedicine.diseaseUnited KingdomNeurological conditionsOriginal ArticleFemaleNeurology (clinical)medicine.symptomNervous System Diseasesbusiness030217 neurology & neurosurgery
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The Norwegian childhood cancer biobank

2021

Background - The rapidly expanding era of “omics” research is highly dependent on the availability of quality-proven biological material, especially for rare conditions such as pediatric malignancies. Professional biobanks provide such material, focusing on standardized collection and handling procedures, distinctive quality measurements, traceability of storage conditions, and accessibility. For pediatric malignancies, traditional tumor biobanking is challenging due to the rareness and limited amount of tissue and blood samples. The higher molecular heterogeneity, lower mutation rates, and unique genomic landscapes, however, renders biobanking of this tissue even more crucial. Aim - The ai…

Cancer Researchmedicine.medical_specialtybusiness.industryChildhood cancerVDP::Medisinske Fag: 700::Basale medisinske odontologiske og veterinærmedisinske fag: 710NorwegianSafeguardingOmicsUniversity hospitalBiobankBiological materialslanguage.human_languageVDP::Medical disciplines: 700::Basic medical dental and veterinary science disciplines: 710OncologyInformed consentFamily medicinemedicinelanguagebusiness
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Design of a prospective, longitudinal cohort of people living with type 1 diabetes exploring factors associated with the residual cardiovascular risk…

2021

Type 1 diabetes mellitus (T1DM) is associated with a high risk of cardiovascular (CV) complications, even after controlling for traditional CV risk factors. Therefore, determinants of the residual increased CV morbidity and mortality remain to be discovered. This prospective cohort of people living with T1DM in France (SFDT1) will include adults and children aged over six years living with T1DM, recruited throughout metropolitan France and overseas French departments and territories. The primary objective is to better understand the parameters associated with CV complications in T1DM. Clinical data and biobank samples will be collected during routine visits every three years. Data from conn…

GerontologyAdultBlood GlucoseEndocrinology Diabetes and MetabolismEndocrinologyQuality of lifeRisk FactorsDiabetes mellitusHealth careInternal MedicineMedicineHumansProspective StudiesProspective cohort studyChildSocioeconomic statusType 1 diabetesbusiness.industryBlood Glucose Self-MonitoringGeneral Medicinemedicine.diseaseBiobankDiabetes Mellitus Type 1Cardiovascular DiseasesHeart Disease Risk FactorsCohortbusinessDiabetesmetabolism
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Association Between Pollution and Frailty in Older People: A Cross-Sectional Analysis of the UK Biobank

2023

Objectives: Frailty is a relevant issue in older people, being associated with several negative outcomes. Increasing literature is reporting that pollution (particularly air pollution) can increase the risk of frailty, but the research is still limited. We aimed to investigate the potential association of pollution (air, noise) with frailty and prefrailty among participants 60 years and older of the UK Biobank study. Design: Cross-sectional. Settings and participants: Older participants (age ≥ 60 years) participating to the UK Biobank. Methods: Frailty and prefrailty presence were ascertained using a model including 5 indicators (weakness, slowness, weight loss, low physical activity, and e…

Health PolicyGeneral MedicinePollution UK Biobank epidemiology frailtyGeriatrics and GerontologyGeneral NursingJournal of the American Medical Directors Association
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Performance of Finnish biobanks in nationwide pulmonary carcinoid tumour research

2019

Finnish hospital-integrated biobanks administer millions of formalin-fixed paraffin-embedded tissue samples collected within the clinical diagnostics. According to the Finnish Biobank Act, these samples can be coupled with patients’ clinical follow-up data and the data retrieved from national health registries. We collected a nationwide pulmonary carcinoid tumour series from Finnish biobanks to study prognostic factors as well as to explore how the number of tumours found in the Finnish biobanks corresponds to the number of tumours registered by the Finnish Cancer Registry (FCR). Finnish biobanks identified 88% of the tumours registered by the FCR and were able to deliver 63%. The main reas…

Male0301 basic medicineLung NeoplasmsProliferation indexbiopankitDiseaseNeuroendocrine tumorskeuhkosyöpäPulmonary carcinoidTumour tissue0302 clinical medicineRARERegistriesINDEXFinlandBiological Specimen BanksOUTCOMESrare cancerSURGICAL RESECTIONGeneral MedicineMiddle AgedPrognosisBiobank3. Good healthbiobank030220 oncology & carcinogenesisMediastinal lymph nodeSURVIVALOriginal ArticleFemaleBURDENpulmonary carcinoidAdultmedicine.medical_specialty3122 CancersCarcinoid TumorPathology and Forensic Medicine03 medical and health sciencesInternal medicinemedicineQUALITYHumansharvinaiset tauditMolecular BiologyBiobankbusiness.industryRare cancerennusteetCell Biologymedicine.diseaseCarcinoma NeuroendocrineCancer registryPulmonary carcinoid tumour030104 developmental biologyEXPERIENCEprognosis3111 BiomedicinebusinessNEUROENDOCRINE TUMORSVirchows Archiv
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Becoming and being a biobank donor: The role of relationships and ethics

2020

Relational aspects, such as involvement of donor’s relatives or friends in the decision-making on participation in a research biobank, providing relatives’ health data to researchers, or sharing research findings with relatives should be considered when reflecting on ethical aspects of research biobanks. The aim of this paper is to explore what the role of donor’s relatives and friends is in the process of becoming and being a biobank donor and which ethical issues arise in this context. We performed qualitative analysis of 40 qualitative semi-structured interviews with biobank donors and researchers. The results show that relatedness to relatives or other types of close relationships playe…

MaleBiomedical ResearchEmotionsFace (sociological concept)Social SciencesFriendsResearch EthicsCognitionSociologyInformed consentMedicine and Health SciencesPsychologyHuman FamiliesResearch Integritymedia_commonBiological Specimen Banks0303 health sciencesMultidisciplinary030305 genetics & heredityQRPublic relationsResearch AssessmentMiddle AgedBiobankResearch PersonnelTissue DonorsGeneral Data Protection RegulationMedicineFemalePsychologyResearch ArticleMedical EthicsAdultScience PolicyScienceDecision MakingClinical Decision-MakingContext (language use)Research and Analysis Methods03 medical and health sciencesGeneticsmedia_common.cataloged_instanceHumansFamilyEuropean union030304 developmental biologyNutritionAgedResearch ethicsMotivationbusiness.industryCognitive PsychologyBiology and Life SciencesLatviaDietCognitive SciencebusinessMedical HumanitiesMedical ethicsNeurosciencePLoS ONE
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Genetic variants associated with human eye size are distinct from those conferring susceptibility to myopia

2021

Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error.Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested for…

MaleRefractive errorLinkage disequilibriumgenetic structuresLOCIEmmetropiaGenome-wide association studyPRSS56AXIAL LENGTHLinkage Disequilibrium0302 clinical medicineCORNEAL CURVATURECorneaMyopiarefractive errorChild0303 health sciencesHERITABILITYMiddle Agedgenetic correlationAxial Length Eyemedicine.anatomical_structureeye sizeGROWTHFemaleAdultmedicine.medical_specialtyUK BiobankAdolescentBiologyRefraction OcularGenetic correlationPolymorphism Single NucleotideOCULAR COMPONENT DIMENSIONS03 medical and health sciencesYoung AdultOphthalmologymedicineGeneticsHumansGenetic Predisposition to Disease3125 Otorhinolaryngology ophthalmologyGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyAgedmedicine.diseaseeye diseasesGenetic marker030221 ophthalmology & optometryHuman eyesense organsGenome-Wide Association StudyInvestigative Ophthalmology & Visual Science
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