Katharine R. Owen
A5002641942- Pancreatic function and diabetes
- Diabetes and associated disorders
- Diabetes Management and Research
- Genetic Associations and Epidemiology
- Diabetes Treatment and Management
- Metabolism, Diabetes, and Cancer
- Genetics and Neurodevelopmental Disorders
- Bioinformatics and Genomic Networks
- Nutrition, Genetics, and Disease
- Diet and metabolism studies
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Birth, Development, and Health
- Diet, Metabolism, and Disease
- Glycosylation and Glycoproteins Research
- RNA Research and Splicing
- Gestational Diabetes Research and Management
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genetic Mapping and Diversity in Plants and Animals
- Adipose Tissue and Metabolism
- Cancer-related gene regulation
- Liver Disease Diagnosis and Treatment
- Bariatric Surgery and Outcomes
- Pancreatitis Pathology and Treatment
- Nuclear Structure and Function
Oxford BioMedica (United Kingdom)
2012-2024
University of Oxford
2015-2024
Oxford Centre for Diabetes, Endocrinology and Metabolism
2015-2024
Oxford University Hospitals NHS Trust
2019-2024
Churchill Hospital
2011-2022
John Radcliffe Hospital
2018-2022
Bayer (Germany)
2022
The University of Melbourne
2020
Austin Health
2020
Peninsula Health
2004-2020
Obesity is a serious international health problem that increases the risk of several common diseases. The genetic factors predisposing to obesity are poorly understood. A genome-wide search for type 2 diabetesâsusceptibility genes identified variant in FTO (fat mass and associated) gene predisposes diabetes through an effect on body index (BMI). An additive association with BMI was replicated 13 cohorts 38,759 participants. 16% adults who homozygous allele weighed about 3 kilograms more...
The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by Wellcome Trust Case Control Consortium, we set out to detect replicated association signals through analysis 3757 additional 5346 integration our findings with equivalent other international consortia. We detected susceptibility loci around genes CDKAL1, CDKN2A/CDKN2B, IGF2BP2 confirmed...
The genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) inwardly rectifying potassium channel (Kir6.2) of β-cell ATP-sensitive (KATP) channel, control insulin secretion. Common polymorphisms in these (ABCC8 exon 16–3t/c, 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large (∼2,000 subjects) case-control studies performed. We evaluated role three variants by studying 2,486 U.K. subjects: 854 1,182 population subjects, 150...
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects European ancestry after imputation using 1000 Genomes multiethnic reference panel. Promising signals were followed up in additional sets (of 14,545 or 7,397 38,994 71,604 subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near GLP2R, GIP, HLA-DQA1...
beta-Cell transcription factor genes are important in the pathophysiology of beta-cell, with mutations hepatocyte nuclear (HNF)-1alpha, HNF-4alpha, insulin promoter (IPF)-1, HNF-1beta, and NeuroD1/BETA2, all resulting early-onset type 2 diabetes. We assessed relative contribution these to diabetes using linkage sequencing analysis a cohort 101 families (95% U.K. Caucasian). The distribution 90 fitting maturity-onset young (MODY) criteria was 63% HNF-1alpha, 2% 0% IPF-1, 1% NeuroD1/ BETA2,...
A limited number of studies have assessed the risk common diseases when combining information from several predisposing polymorphisms. In most cases, individual polymorphisms only moderately increase (approximately 20%), and they are thought to be unhelpful in assessing individuals' clinically. The value analyzing multiple alleles simultaneously is not well studied. This often because, for any given disease, very few been confirmed.
Misdiagnosis of maturity-onset diabetes the young (MODY) remains widespread, despite benefits optimized management. This cross-sectional study examined diagnostic misclassification MODY in subjects with clinically labeled adult-onset type 1 and 2 by extending genetic testing beyond current guidelines.
MicroRNAs play a crucial role in the regulation of cell growth and differentiation. Mice with genetic deletion miR-375 exhibit impaired glycemic control due to decreased β-cell increased α-cell mass function. The relative importance these processes for overall phenotype miR-375KO mice is unknown. Here, we show that overexpressing normal Selective re-expression β-cells normalizes both, α- phenotypes as well glucose metabolism. Using this model, also analyzed contribution total plasma levels....
Abstract Background There is much interest in the use of prognostic and diagnostic prediction models all areas clinical medicine. The machine learning to improve accuracy this area has been increasing at expense classic statistical models. Previous studies have compared performance between these two approaches but their findings are inconsistent many limitations. We aimed compare discrimination calibration seven built using logistic regression optimised algorithms a setting, where number...
IGF-I has a critical role in growth and metabolism. A microsatellite polymorphism 1 kb upstream to the gene recently been associated with several adult phenotypes. In large Dutch cohort, absence of commonest allele (Z) was reduced serum levels, height, an increased risk type 2 diabetes myocardial infarction. This result not replicated, this these traits U.K. subjects is known. We sought further evidence for involvement variant using case-control study diabetes-related population cohort 640...
Despite the clinical importance of an accurate diagnosis in individuals with monogenic forms diabetes, restricted access to genetic testing leaves many patients undiagnosed diabetes. Recently, common variation near HNF1 homeobox A (HNF1A) gene was shown influence C-reactive protein levels healthy adults. We hypothesized that serum high-sensitivity (hs-CRP) could represent a clinically useful biomarker for identification HNF1A mutations causing maturity-onset diabetes young (MODY).Serum...
Abstract Mutations in the LMNA gene result diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle dilated cardiomyopathy with conduction system disease, Dunnigan type familial partial lipodystrophy, mandibulo acral dysplasia, Hutchinson Gilford progeria syndrome, restrictive dermopathy and autosomal recessive Charcot Marie Tooth 2. The c.1930C > T (R644C) missense mutation has previously been reported eight unrelated patients variable features left ventricular...
A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes the young (MODY) would display altered fucosylation N-linked glycans on plasma proteins and glycan biomarkers could improve efficiency diagnosis HNF1A-MODY. In pilot comparison 33 subjects with HNF1A-MODY 41 type 2 diabetes, 15 29 measurements differed between two groups. The...
Maturity-onset diabetes of the young (MODY) as a result mutations in hepatocyte nuclear factor 1-α (HNF1A) is often misdiagnosed type 1 or 2 diabetes. Recent work has shown that high-sensitivity C-reactive protein (hs-CRP) levels are lower HNF1A-MODY than diabetes, glucokinase (GCK)-MODY. We aim to replicate these findings larger numbers and other MODY subtypes.hs-CRP were assessed 750 patients (220 HNF1A, 245 GCK, 54 HNF4-α [HNF4A], 21 HNF1-β (HNF1B), 53 157 diabetes).hs-CRP was (median...
Fifty patients with hypertension, aldosterone excess, and low plasma renin concentration underwent adrenal surgery. There was a highly significant fall in mean systolic diastolic pressures after the operation. The postoperative pressure fell to strictly normal levels, however, only 19 out of 38 from whom an adrenocortical adenoma removed two 10 non-tumour patients. correlation between blood during spironolactone treatment surgery though levels were generally slightly lower former therapy. It...
Objective To develop and validate multivariable clinical diagnostic models to assist distinguishing between type 1 2 diabetes in adults aged 18–50. Design Multivariable logistic regression analysis was used classification integrating five pre-specified predictor variables, including features (age of diagnosis, body mass index) biomarkers (GADA Islet Antigen islet autoantibodies, Type Diabetes Genetic Risk Score), identify with rapid insulin requirement using data from existing cohorts....