Research Topics
Species | K R OwenSummaryAffiliation: University of Exeter Country: UK Publications
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Detail Information
Publications
Multifocal fibrosclerosis: a case of thyroiditis and bilateral lacrimal gland involvementK Owen
Department of Medicine, Singleton Hospital, Swansea, Wales, United Kingdom
Thyroid 11:1187-90. 2001..The unusual ocular features of this case are briefly discussed and the use of corticosteroid and other immunosuppressant therapy in multifocal fibrosclerosis is reviewed...
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristicsK R Owen
Centre for Molecular Genetics, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, UK
Diabet Med 19:758-61. 2002..To describe the characteristics of hepatocyte nuclear factor (HNF) 1 alpha mutation carriers diagnosed with diabetes after 25 years and compare them with young-onset Type 2 diabetic patients (YT2D) diagnosed at the same age...
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetesKatharine R Owen
Peninsula Medical School, Department of Diabetes and Vascular Medicine, Exeter, Devon, UK
Diabetes Care 26:2088-93. 2003..The characteristics of these groups have been described, but it is not known in which subjects investigation for etiology may be beneficial...
Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocationK R Owen
Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
Diabet Med 20:483-5. 2003..Investigation is necessary to exclude other aetiologies including genetic causes. The co-existence of diabetes and a chromosomal breakpoint may indicate the position of novel diabetes genes...
Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetesS M S Mitchell
Department of Diabetes and Vascular Medicine, University of Exeter, Exeter, UK
Diabetologia 45:1344-8. 2002....
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetesE L Edghill
Institute of Biomedical and Clinical Science Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, UK
Diabet Med 28:681-4. 2011..In contrast, the role of low frequency genetic variants (minor allele frequency 0.1-5%) in Type 2 diabetes is not known. The aim of this study was to assess the role of low frequency PDX1 (also called IPF1) variants in Type 2 diabetes...
Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onsetEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetes 53:3319-22. 2004....
A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian populationMichael N Weedon
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabetes 54:2487-91. 2005..31 [1.08-1.59], P = 0.007). Further studies are required to investigate this association, demonstrating the difficulty of defining the role of rare (<5%) alleles in type 2 diabetes risk...
Combining information from common type 2 diabetes risk polymorphisms improves disease predictionMichael N Weedon
Department of Diabetes Research and Vascular Medicine, Peninsula Medical School, Exeter, United Kingdom
PLoS Med 3:e374. 2006..The value of analyzing multiple alleles simultaneously is not well studied. This is often because, for any given disease, very few common risk alleles have been confirmed...
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesityTimothy M Frayling
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
Science 316:889-94. 2007..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
Science 316:1336-41. 2007..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. populationMichael N Weedon
Department of Diabetes Research and Vascular Medicine, Peninsula Medical School, Barrack Road, Exeter, UK
Diabetes 53:3002-6. 2004..1-linked cases. In conclusion, we have replicated the association of the HNF4alpha P2 promoter haplotype with type 2 diabetes in a U.K. Caucasian population where there is no evidence of linkage to 20q...
The role of the HNF4alpha enhancer in type 2 diabetesSimon M S Mitchell
Department of Diabetes and Vascular Medicine, University of Exeter, Barrack Road, EX2 5DW, UK
Mol Genet Metab 76:148-51. 2002..No variants of the enhancer element were found in this population. We conclude that variation in the HNF4alpha enhancer element is not a common cause of susceptibility to type 2 diabetes...
Treating hypertension in diabetic nephropathyJeremy W Tomlinson
Department of Diabetes, Taunton and Somerset Hospital, Taunton, UK
Diabetes Care 26:1802-5. 2003..However, in most patients, systolic blood pressure was difficult to control to target despite the use of multiple drug combination therapy...
Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjectsSimon M S Mitchell
Centre for Molecular Genetics, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, U K
Diabetes 52:1276-9. 2003..Our study suggests that genetic variation in SHP is unlikely to be common in the predisposition to diabetes, obesity, or increased birth weight in U.K. Caucasians...
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutationCoralie Bingham
Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, United Kingdom
Kidney Int 63:1645-51. 2003....
Common variants near MC4R are associated with fat mass, weight and risk of obesityRuth J F Loos
MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Nat Genet 40:768-75. 2008....
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetesEleftheria Zeggini
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Nat Genet 40:638-45. 2008..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
Genetics of type 2 diabetesKatharine R Owen
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital Old Road, Headington, Oxford, OX3 7LJ, UK
Curr Opin Genet Dev 17:239-44. 2007....
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetesAnna L Gloyn
Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
Diabetes 52:568-72. 2003..000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles...
Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjectsKatharine R Owen
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, U K
Diabetes 56:879-83. 2007..However, in a meta-analysis including other available data, there is evidence that rs4641 has a modest effect on diabetes susceptibility (1.10 [1.04-1.16], P = 0.001)...
Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approachAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
Diabetes 55:2272-6. 2006..Using a study sufficiently powered to detect odds ratios of <1.2, we conclude that common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes...
The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adultsMinal Desai
Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetes 55:1890-4. 2006..In conclusion, differences in VNTR-encoded susceptibility do not explain the differences in clinical presentation that distinguish classical type 1 diabetes and LADA...
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA geneKatharine R Owen
Department of Diabetes and Vascular Medicine, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, UK
Diabet Med 20:823-7. 2003..Preliminary results from animals and man suggest that increasing subcutaneous fat by treatment with thiazolidinediones should improve insulin resistance and the associated features of this syndrome...
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome)Katharine R Owen
Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
Nephron Clin Pract 96:c35-8. 2004....
