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Exploring rare coding variants in UK biobank: preliminary associations with motor neuron disease.

INTRODUCTION: Previous studies have illuminated a significant genetic component in motor neuron disease (MND) pathogenesis, with several causative genes identified. However, a substantial proportion of MND cases remain genetically unexplained, particularly regarding the comprehensive contribution of rare, high-impact variants across the exome. METHODS: Leveraging whole-exome sequencing data from nearly half a million UK Biobank participants, we systematically investigated the association between high-confidence protein-truncating variants (HC PTVs) and MND risk in a Caucasian subset. Our larg…

Predicting prostate cancer mortality using UK Biobank data: a multimodal machine learning approach.

Prostate cancer remains a major cause of cancer-related mortality among men worldwide; however, it remains challenging to predict disease progression in individuals. While numerous tools attempt to forecast the likelihood of developing the cancer, fewer studies focus specifically on mortality prediction using population-scale clinical datasets. UK Biobank data were used to develop population-scale predictive models of prostate cancer mortality. The study assessed medical records, blood work, physical measurements, and genetic information of approximately 167 000 males aged 50 and above. A feed…

Circulating IGF-1 levels and 27 digestive diseases: 461,401 UK biobank prospective analysis.

Insulin-like growth factor-1 (IGF-1) regulates gastrointestinal mucosal repair, hepatocyte function, and metabolic homeostasis, but its association with a broad spectrum of digestive diseases remains unsystematic. We analyzed 461,401 UK Biobank participants (aged 40-69 years) with baseline IGF-1 measurements (stratified into quartiles: Q1 ≤ 17.525, Q2 17.526-21.253, Q3 21.254-24.825, Q4 ≥ 24.826 nmol/L) and followed up to August 2024 (median: 66-184 months). Cox proportional hazards regression and restricted cubic spline (RCS) analyses assessed associations between IGF-1 and 27 ICD-10-classifi…

Multical Sclerosis Severity Alle res10191329A и Когнитивная функция: UK Biobank Study.

В рамках исследования, проведенного в рамках всей ассоциации генома по вопросу о жесткости множественных склерозов, генетический вариант rs10191329A увязывался с долгосрочной инвалидностью и в качестве одного из определяющих факторов исхода учитывала устойчивость мозга. Мы гипотезали, что rs10191329A может повлиять на когницию других неврологических заболеваний и здоровый контроль. Мы изучили связь между rs10191329A и когницией с использованием времени реакции, жидкого интеллекта и возможных тестов памяти в Биобанке Великобритании. Мы наблюдали слабые, но последовательные связи между rs1019132

Совпадение в аннотации оригинала
The genome-wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long-term disability and implicat … 0191329A and cognition using reaction time, fluid intelligence, and prospective memory tests in the UK Biobank. We observed weak but directionally consistent associations between rs10191329A and poorer cognition in controls, with similar but non-significant trends in Multiple Sclerosis, Parkinson's disease, and dementia. Our results support the hypothesis th …

Usual walking Pace and risk of 28 cancers- results from the UK biobank.

BACKGROUND: Usual walking pace represents a practical indicator of overall health. However, its association with cancer development remains unexplored. We investigated the relation between self-reported walking pace and cancer risk. METHODS: Using baseline UK Biobank data from 2006 to 2010, excluding the first two years of follow-up to reduce reverse causation, we employed multivariable Cox regression to assess the association between walking pace (slow, steady average, brisk) and risk of 28 cancer types, accounting for overall physical activity and walking volume. RESULTS: After a median fo…

The Multiple Sclerosis severity allele rs10191329A and cognitive function: a UK Biobank study

The genome-wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329 A to long-term disability, suggesting it affects central nervous system resilience. We hypothesised that rs10191329 A might influence cognition in other neurological diseases and in healthy controls. We explored the relationship between rs10191329 A and cognitive function - measured using reaction time, fluid intelligence, and prospective memory tests - in the United Kingdom Biobank. Rs10191329 A was consistently associated with poorer cognition in controls, with similar but non-significant t

Evaluating Sex Disparity in Pancreatic Ductal Adenocarcinoma Risk in the UK Biobank Cohort.

BACKGROUND: The incidence of pancreatic ductal adenocarcinoma (PDAC) is lower in females than males (19.0 vs. 20.2 for 100,000 individuals in Europe). This disparity is commonly attributed to differences in exposure to lifestyle risk factors such as smoking and alcohol consumption; however, hormonal activity may also play a role. OBJECTIVE: This study aimed to comprehensively examine the role of hormone exposure and reproductive factors in males and females in PDAC susceptibility. METHODS: We analyzed 816 PDAC cases and 302,645 controls from the UK Biobank prospective cohort. Twenty hormone-…

Inflammatory Bowel Disease and Risk of Rheumatoid Arthritis: A UK Biobank Cohort Study.

OBJECTIVES: Inflammatory bowel disease (IBD) and rheumatoid arthritis (RA) are both prevalent inflammatory conditions within the population. Our objective was to explore the relationship between IBD and RA, while examining the role of inflammatory mediators in the observed association. METHODS: We used data from the UK Biobank, a population-based prospective cohort study that recruited adults aged 37-73 years from 22 centers in England, Scotland, and Wales between 2006 and 2010. We included patients diagnosed with IBD at baseline and excluded those with RA at baseline or missing follow-up inf…

Using UK Biobank data to establish population-specific atlases from whole body MRI.

BACKGROUND: Reliable reference data in medical imaging is largely unavailable. Developing tools that allow for the comparison of individual … ing the population into anatomically meaningful subgroups. Using magnetic resonance images from the UK Biobank dataset, we create six whole-body atlases representing a healthy population average. We furthermore unbias them, and this way obtain a realistic representation of the population. In addition to the anatomical atlases, we generate probabilistic atlas …

Association between constipation and incident chronic kidney disease in the UK Biobank study.

Despite previous studies supporting a close relationship between constipation and chronic kidney disease (CKD), the potential impact of constipation on incident CKD and the role of laxatives remains uncertain. We analyzed longitudinal data from the UK Biobank, which links baseline assessment data with follow-up data from hospital episode statistics and general practice records. Constipation was defined with diagnostic codes or regular use of laxatives at baseline as reported in the questionnaire. Cox proportional hazard models were used to evaluate the association between constipation and inci…

Sweetened Beverage Intake and Incident Chronic Kidney Disease in the UK Biobank Study.

IMPORTANCE: An increasing body of evidence indicates an association between consuming sugar or its alternatives and cardiometabolic diseases … , SETTING, AND PARTICIPANTS: This prospective, population-based cohort study analyzed data from the UK Biobank. Participants without a history of CKD who completed at least 1 dietary questionnaire were included. The follow-up period was from the date of the last dietary questionnaire until October 31, 2022, in England; July 31, 2021, in Scotland; and Februar …

Metabolic syndrome increases osteoarthritis risk: findings from the UK Biobank prospective cohort study.

OBJECTIVE: The association between Metabolic Syndrome (MetS), its components, and the risk of osteoarthritis (OA) has been a topic of conflicting evidence in different studies. The aim of this present study is to investigate the association between MetS, its components, and the risk of OA using data from the UK Biobank. METHODS: A prospective cohort study was conducted in the UK Biobank to assess the risk of osteoarthritis (OA) related to MetS. MetS was defined according to the criteria set by the International Diabetes Federation (IDF). Additionally, lifestyle factors, medications, and the i…

Relationship Among Diabetes, Obesity, and Cardiovascular Disease Phenotypes: A UK Biobank Cohort Study.

OBJECTIVE: Obesity and diabetes frequently coexist, yet their individual contributions to cardiovascular risk remain debated. We explored cardiovascular disease biomarkers, events, and mortality in the UK Biobank stratified by BMI and diabetes. RESEARCH DESIGN AND METHODS: A total of 451,355 participants were stratified by ethnicity-specific BMI categories (normal, overweight, obese) and diabetes status. We examined cardiovascular biomarkers including carotid intima-media thickness (CIMT), arterial stiffness, left ventricular ejection fraction (LVEF), and cardiac contractility index (CCI). Po…

Association between coeliac disease and cardiovascular disease: prospective analysis of UK Biobank data.

OBJECTIVES: To investigate whether people with coeliac disease are at increased risk of cardiovascular disease, including ischaemic heart disease, myocardial infarction, and stroke. DESIGN: Prospective analysis of a large cohort study. SETTING: UK Biobank database. PARTICIPANTS: 469 095 adults, of which 2083 had coeliac disease, aged 40-69 years from England, Scotland, and Wales between 2006 and 2010 without cardiovascular disease at baseline. MAIN OUTCOME MEASURE: A composite primary outcome was relative risk of cardiovascular disease, ischaemic heart disease, myocardial infarction, and s…

Assessing volumetric brain differences in migraine and depression patients: a UK Biobank study.

BACKGROUND: Migraine and depression are two of the most common and debilitating conditions. From a clinical perspective, they are mostly pre … arison to healthy controls. METHODS: The study included data from 43 930 participants of the large UK Biobank cohort. Using official ICD10 diagnosis, we selected 712 participants with migraine, 1 853 with depression and 23 942 healthy controls. We estimated mean volumetric difference between the groups for the different sub-cortical brain regions using gene …

Fatty liver disease, heart rate and cardiac remodelling: Evidence from the UK Biobank.

BACKGROUND AND AIMS: Growing evidence supports an association between fatty liver disease (FLD) and cardiac dysfunction and remodelling, leading to cardiovascular disease and heart failure. Herein, we investigated the independent contribution of FLD to cardiac dysfunction and remodelling in participants from the UK Biobank with cardiac magnetic resonance (CMR) data available. METHODS: A total of 18 848 Europeans without chronic viral hepatitis and valvular heart diseases, with liver magnetic resonance imaging and CMR data were included in the analyses. Clinical, laboratory and imaging data we…

Telomere Length and Risk of Incident Fracture and Arthroplasty: Findings From UK Biobank.

We investigated independent associations between telomere length and risk of fracture and arthroplasty in UK Biobank participants. Leukocyte telomere length (LTL) was measured in baseline samples using a validated polymerase chain reaction (PCR) method. We used, in men and women separately, Cox proportional hazards models to calculate the hazard ratio (HR) for incident fracture (any, osteoporotic) or arthroplasty (hip or knee) over 1,186,410 person-years of follow-up. Covariates included age, white cell count, ethnicity, smoking, alcohol, physical activity, and menopause (women). In further an…

Sickle Cell Trait and Risk for Common Diseases: Evidence from the UK Biobank.

BACKGROUND: Sickle cell trait is typically considered benign. Although evidence remains inconsistent, recent studies suggest that it is associated with several common diseases. We systematically assessed associations of sickle cell trait with reported diseases in a large population-based cohort. METHODS: Study subjects were self-reported Blacks from the UK Biobank (UKB), a United Kingdom population-based cohort of subjects aged 40-69 years at recruitment in the United Kingdom. Sickle cell status was based on the International Classification of Diseases, Tenth Revision (ICD-10) or mutations in…

Uncertainty-aware body composition analysis with deep regression ensembles on UK Biobank MRI.

Along with rich health-related metadata, medical images have been acquired for over 40,000 male and female UK Biobank participants, aged 44-82, since 2014. Phenotypes derived from these images, such as measurements of body composition from MRI, can reveal new links between genetics, cardiovascular disease, and metabolic conditions. In this work, six measurements of body composition and adipose tissues were automatically estimated by image-based, deep regression with ResNet50 neural networks from neck-to-knee body MRI. Despite the potential for high speed and accuracy, these networks produce no…

Thyroid dysfunction and breast cancer risk among women in the UK Biobank cohort.

This study aimed to evaluate the association between thyroid dysfunction and breast cancer risk. We included 239,436 females of the UK Biobank cohort. Information on thyroid dysfunction, personal and family medical history, medications, reproductive factors, lifestyle, and socioeconomic characteristics was retrieved from baseline self-reported data and hospital inpatient databases. Breast cancer diagnoses were identified through population-based registries. We computed Cox models to estimate hazard ratios (HRs) of breast cancer incidence for thyroid dysfunction diagnosis and treatments, and ex…