K R Owen
Affiliation: University of Exeter
- 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....