scholarly journals Associations between sleep disturbances, diabetes and mortality in the UK Biobank cohort: A prospective population‐based study

2021 ◽  
Author(s):  
Malcolm Schantz ◽  
Jason C. Ong ◽  
Kristen L. Knutson
Keyword(s):  
Sleep Disturbances ◽  
Population Based ◽  
Uk Biobank ◽  
Population Based Study ◽  
The Uk

scholarly journals Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

BMJ ◽  
2021 ◽  
pp. n214
Author(s):  
Weedon MN ◽  
Jackson L ◽  
Harrison JW ◽  
Ruth KS ◽  
Tyrrell J ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Predictive Value ◽  
Population Based ◽  
Genome Project ◽  
Personal Genome ◽  
Uk Biobank ◽  
Sequencing Data ◽  
Snp Chip ◽  
Pathogenic Variants ◽  
The Uk

Abstract Objective To determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population. Design Retrospective, population based diagnostic evaluation. Participants 49 908 people recruited to the UK Biobank with SNP chip and next generation sequencing data, and an additional 21 people who purchased consumer genetic tests and shared their data online via the Personal Genome Project. Main outcome measures Genotyping (that is, identification of the correct DNA base at a specific genomic location) using SNP chips versus sequencing, with results split by frequency of that genotype in the population. Rare pathogenic variants in the BRCA1 and BRCA2 genes were selected as an exemplar for detailed analysis of clinically actionable variants in the UK Biobank, and BRCA related cancers (breast, ovarian, prostate, and pancreatic) were assessed in participants through use of cancer registry data. Results Overall, genotyping using SNP chips performed well compared with sequencing; sensitivity, specificity, positive predictive value, and negative predictive value were all above 99% for 108 574 common variants directly genotyped on the SNP chips and sequenced in the UK Biobank. However, the likelihood of a true positive result decreased dramatically with decreasing variant frequency; for variants that are very rare in the population, with a frequency below 0.001% in UK Biobank, the positive predictive value was very low and only 16% of 4757 heterozygous genotypes from the SNP chips were confirmed with sequencing data. Results were similar for SNP chip data from the Personal Genome Project, and 20/21 individuals analysed had at least one false positive rare pathogenic variant that had been incorrectly genotyped. For pathogenic variants in the BRCA1 and BRCA2 genes, which are individually very rare, the overall performance metrics for the SNP chips versus sequencing in the UK Biobank were: sensitivity 34.6%, specificity 98.3%, positive predictive value 4.2%, and negative predictive value 99.9%. Rates of BRCA related cancers in UK Biobank participants with a positive SNP chip result were similar to those for age matched controls (odds ratio 1.31, 95% confidence interval 0.99 to 1.71) because the vast majority of variants were false positives, whereas sequence positive participants had a significantly increased risk (odds ratio 4.05, 2.72 to 6.03). Conclusions SNP chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation.

scholarly journals The haematological features and transfusion management of women who required massive transfusion for major obstetric haemorrhage in the UK: a population based study

2015 ◽  
Vol 172 (4) ◽  
pp. 616-624 ◽  
Author(s):  
Laura Green ◽  
Marian Knight ◽  
Frances Seeney ◽  
Cathy Hopkinson ◽  
Peter W. Collins ◽  
...  
Keyword(s):  
Massive Transfusion ◽  
Population Based ◽  
Population Based Study ◽  
Obstetric Haemorrhage ◽  
The Uk

scholarly journals Comparison of prognostic models to predict the occurrence of colorectal cancer in asymptomatic individuals: a systematic literature review and external validation in the EPIC and UK Biobank prospective cohort studies

Gut ◽  
2018 ◽  
Vol 68 (4) ◽  
pp. 672-683 ◽  
Author(s):  
Todd Smith ◽  
David C Muller ◽  
Karel G M Moons ◽  
Amanda J Cross ◽  
Mattias Johansson ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Systematic Review ◽  
Prediction Models ◽  
Large Population ◽  
External Validation ◽  
Population Based ◽  
Prognostic Models ◽  
Uk Biobank ◽  
Asymptomatic Individuals ◽  
The Uk

ObjectiveTo systematically identify and validate published colorectal cancer risk prediction models that do not require invasive testing in two large population-based prospective cohorts.DesignModels were identified through an update of a published systematic review and validated in the European Prospective Investigation into Cancer and Nutrition (EPIC) and the UK Biobank. The performance of the models to predict the occurrence of colorectal cancer within 5 or 10 years after study enrolment was assessed by discrimination (C-statistic) and calibration (plots of observed vs predicted probability).ResultsThe systematic review and its update identified 16 models from 8 publications (8 colorectal, 5 colon and 3 rectal). The number of participants included in each model validation ranged from 41 587 to 396 515, and the number of cases ranged from 115 to 1781. Eligible and ineligible participants across the models were largely comparable. Calibration of the models, where assessable, was very good and further improved by recalibration. The C-statistics of the models were largely similar between validation cohorts with the highest values achieved being 0.70 (95% CI 0.68 to 0.72) in the UK Biobank and 0.71 (95% CI 0.67 to 0.74) in EPIC.ConclusionSeveral of these non-invasive models exhibited good calibration and discrimination within both external validation populations and are therefore potentially suitable candidates for the facilitation of risk stratification in population-based colorectal screening programmes. Future work should both evaluate this potential, through modelling and impact studies, and ascertain if further enhancement in their performance can be obtained.

scholarly journals Psychotropic Medication Prescribing for Neuropsychiatric Comorbidities in Individuals Diagnosed with Autism Spectrum Disorder (ASD) in the UK

2019 ◽  
Vol 50 (2) ◽  
pp. 625-633 ◽  
Author(s):  
Basmah H. Alfageh ◽  
Kenneth K. C. Man ◽  
Frank M. C. Besag ◽  
Tariq M. Alhawassi ◽  
Ian C. K. Wong ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Psychotropic Medication ◽  
Population Based ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Population Based Study ◽  
Changing Trend ◽  
Neuropsychiatric Comorbidities ◽  
Medication Prescribing ◽  
The Uk

Abstract Autism spectrum disorder (ASD) is a lifelong disorder. In the UK, risperidone is the only psychotropic medication approved for the management of the behavioural symptoms that may accompany autism. This is a population-based study aimed to provide an evaluation of the changing trend in the incidence and prevalence of ASD and to analyse the pattern of psychotropic medication prescribing in the UK. 20,194 patients with ASD were identified. The prevalence increased 3.3-fold from 0.109 per 100 persons in 2009 to 0.355 per 100 persons in 2016. Approximately one-third of the identified cohort was prescribed at least one psychotropic medication. Although the medications approved to manage the symptoms of ASD are limited, the prescribing of such medications is increasing.

scholarly journals Altered Cortical Brain Structure and Increased Risk for Disease Seen Decades After Perinatal Exposure to Maternal Smoking: A Study of 9000 Adults in the UK Biobank

2019 ◽  
Vol 29 (12) ◽  
pp. 5217-5233 ◽  
Author(s):  
Lauren E Salminen ◽  
Rand R Wilcox ◽  
Alyssa H Zhu ◽  
Brandalyn C Riedel ◽  
Christopher R K Ching ◽  
...  
Keyword(s):  
Brain Structure ◽  
Brain Mri ◽  
Population Based ◽  
Smoke Exposure ◽  
Sensitivity Analyses ◽  
Uk Biobank ◽  
Increased Risk ◽  
Increase Risk ◽  
Sensory Cortices ◽  
The Uk

Abstract Secondhand smoke exposure is a major public health risk that is especially harmful to the developing brain, but it is unclear if early exposure affects brain structure during middle age and older adulthood. Here we analyzed brain MRI data from the UK Biobank in a population-based sample of individuals (ages 44–80) who were exposed (n = 2510) or unexposed (n = 6079) to smoking around birth. We used robust statistical models, including quantile regressions, to test the effect of perinatal smoke exposure (PSE) on cortical surface area (SA), thickness, and subcortical volumes. We hypothesized that PSE would be associated with cortical disruption in primary sensory areas compared to unexposed (PSE−) adults. After adjusting for multiple comparisons, SA was significantly lower in the pericalcarine (PCAL), inferior parietal (IPL), and regions of the temporal and frontal cortex of PSE+ adults; these abnormalities were associated with increased risk for several diseases, including circulatory and endocrine conditions. Sensitivity analyses conducted in a hold-out group of healthy participants (exposed, n = 109, unexposed, n = 315) replicated the effect of PSE on SA in the PCAL and IPL. Collectively our results show a negative, long term effect of PSE on sensory cortices that may increase risk for disease later in life.

Association Between Sleep Disturbances and Frailty: Evidence From a Population-Based Study

2020 ◽  
Author(s):  
Vassilis Balomenos ◽  
Eva Ntanasi ◽  
Costas A. Anastasiou ◽  
Socrates Charisis ◽  
Georgios Velonakis ◽  
...  
Keyword(s):  
Sleep Disturbances ◽  
Population Based ◽  
Population Based Study

scholarly journals 0154 A new, efficient web-based tool to collect and code lifetime job histories in large population-based studies: the COPD project in the UK Biobank cohort

2014 ◽  
Vol 71 (Suppl 1) ◽  
pp. A19.1-A19
Author(s):  
Sara De Matteis ◽  
Lesley Rushton ◽  
Debbie Jarvis ◽  
Magda Wheatley ◽  
Hadia Azhar ◽  
...  
Keyword(s):  
Large Population ◽  
Population Based ◽  
Uk Biobank ◽  
Web Based ◽  
The Uk

scholarly journals Optical Coherence Tomography in the UK Biobank Study – Rapid Automated Analysis of Retinal Thickness for Large Population-Based Studies

PLoS ONE ◽  
2016 ◽  
Vol 11 (10) ◽  
pp. e0164095 ◽  
Author(s):  
Pearse A. Keane ◽  
Carlota M. Grossi ◽  
Paul J. Foster ◽  
Qi Yang ◽  
Charles A. Reisman ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Retinal Thickness ◽  
Large Population ◽  
Automated Analysis ◽  
Population Based ◽  
Optical Coherence ◽  
Uk Biobank ◽  
The Uk
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