MARK IAN MCCARTHY

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Early metabolic defects following gestational diabetes in three ethnic groups of anti-GAD antibodies negative women with normal fasting glucose
    Eleni Kousta
    Section of Endocrinology and Metabolic Medicine, Imperial College Faculty of Medicine, St Mary s Hospital, Norfolk Place, London W2 1PG, UK
    Hormones (Athens) 6:138-47. 2007
  2. pmc New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
    Momoko Horikoshi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Nat Genet 45:76-82. 2013
  3. pmc Mapping cis- and trans-regulatory effects across multiple tissues in twins
    Elin Grundberg
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 44:1084-9. 2012
  4. pmc The importance of global studies of the genetics of type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, and Wellcome Trust Centre for Human Genetics, University of Oxford Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK
    Diabetes Metab J 35:91-100. 2011
  5. pmc The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis
    Martijn van de Bunt
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    PLoS ONE 8:e55272. 2013
  6. pmc BMI-associated alleles do not constitute risk alleles for polycystic ovary syndrome independently of BMI: a case-control study
    Yvonne V Louwers
    Department of Obstetrics and Gynecology, Subdivision of Reproductive Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    PLoS ONE 9:e87335. 2014
  7. pmc Ethnic variation in the activity of lipid desaturases and their relationships with cardiovascular risk factors in control women and an at-risk group with previous gestational diabetes mellitus: a cross-sectional study
    Robert G Gray
    Diabetes Endocrinology and Metabolic Medicine, Faculty of Medicine, Imperial College London, St Mary s Campus, Room G1, Norfolk Place, London W2 1PG, UK
    Lipids Health Dis 12:25. 2013
  8. doi request reprint TCF7L2 and Diabetes: A Tale of Two Tissues, and of Two Species
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK Electronic address
    Cell Metab 17:157-9. 2013
  9. pmc TCF7L2: the biggest story in diabetes genetics since HLA?
    E Zeggini
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 50:1-4. 2007
  10. pmc Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes
    Vesna Boraska
    Department of Medical Biology, University of Split School of Medicine, Split, Croatia
    BMC Med Genet 11:69. 2010

Research Grants

  1. The international 1q type 2 diabetes consortium
    Mark McCarthy; Fiscal Year: 2006
  2. The international 1q type 2 diabetes consortium
    Mark McCarthy; Fiscal Year: 2007
  3. The international 1q type 2 diabetes consortium
    Mark McCarthy; Fiscal Year: 2009
  4. The international 1q type 2 diabetes consortium
    MARK IAN MCCARTHY; Fiscal Year: 2010

Detail Information

Publications100

  1. ncbi request reprint Early metabolic defects following gestational diabetes in three ethnic groups of anti-GAD antibodies negative women with normal fasting glucose
    Eleni Kousta
    Section of Endocrinology and Metabolic Medicine, Imperial College Faculty of Medicine, St Mary s Hospital, Norfolk Place, London W2 1PG, UK
    Hormones (Athens) 6:138-47. 2007
    ..To characterise early metabolic abnormalities and the impact of ethnicity following gestational diabetes mellitus (GDM)...
  2. pmc New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
    Momoko Horikoshi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Nat Genet 45:76-82. 2013
    ..Our findings highlight genetic links between fetal growth and postnatal growth and metabolism...
  3. pmc Mapping cis- and trans-regulatory effects across multiple tissues in twins
    Elin Grundberg
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 44:1084-9. 2012
    ....
  4. pmc The importance of global studies of the genetics of type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, and Wellcome Trust Centre for Human Genetics, University of Oxford Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK
    Diabetes Metab J 35:91-100. 2011
    ....
  5. pmc The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis
    Martijn van de Bunt
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    PLoS ONE 8:e55272. 2013
    ..In conclusion, we have described the miRNA profile of human islets and beta-cells and provide evidence linking islet miRNAs to T2D pathogenesis...
  6. pmc BMI-associated alleles do not constitute risk alleles for polycystic ovary syndrome independently of BMI: a case-control study
    Yvonne V Louwers
    Department of Obstetrics and Gynecology, Subdivision of Reproductive Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    PLoS ONE 9:e87335. 2014
    ..The aim of this study was to determine to which extent BMI-increasing alleles contribute to risk of PCOS when contemporaneous BMI is taken into consideration...
  7. pmc Ethnic variation in the activity of lipid desaturases and their relationships with cardiovascular risk factors in control women and an at-risk group with previous gestational diabetes mellitus: a cross-sectional study
    Robert G Gray
    Diabetes Endocrinology and Metabolic Medicine, Faculty of Medicine, Imperial College London, St Mary s Campus, Room G1, Norfolk Place, London W2 1PG, UK
    Lipids Health Dis 12:25. 2013
    ..There are marked ethnic differences in risks of CHD and T2DM but little is known about ethnic differences in desaturase activities...
  8. doi request reprint TCF7L2 and Diabetes: A Tale of Two Tissues, and of Two Species
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK Electronic address
    Cell Metab 17:157-9. 2013
    ..A recent paper in Cell (Boj et al., 2012) using rodent models to examine how diabetes-associated variants near TCF7L2 perturb metabolic regulation provides surprising results...
  9. pmc TCF7L2: the biggest story in diabetes genetics since HLA?
    E Zeggini
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 50:1-4. 2007
  10. pmc Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes
    Vesna Boraska
    Department of Medical Biology, University of Split School of Medicine, Split, Croatia
    BMC Med Genet 11:69. 2010
    ..The purpose of this study is to examine T2D association of tag SNPs in the TNF/LTA region capturing the majority of common variation in a large-scale sample set of UK/Irish origin...
  11. pmc Variability of gene expression profiles in human blood and lymphoblastoid cell lines
    Josine L Min
    Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, Oxford, UK
    BMC Genomics 11:96. 2010
    ....
  12. pmc An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25
    Cheng Hu
    Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People s Hospital, 600 Yishan Road, Shanghai, 200233, China
    BMC Genet 9:19. 2008
    ....
  13. pmc PASSIM--an open source software system for managing information in biomedical studies
    Juris Viksna
    Institute of Mathematics and Computer Science, Riga, University of Latvia, Latvia
    BMC Bioinformatics 8:52. 2007
    ..There is a clear need for lightweight open source systems for patient and sample information management...
  14. pmc Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK, and The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX7 7BN, UK
    Genome Med 1:66. 2009
    ..Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies...
  15. pmc Genome-wide association studies: potential next steps on a genetic journey
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK
    Hum Mol Genet 17:R156-65. 2008
    ..We outline possible next steps that may help accelerate progress from genetic studies to the biological knowledge that can guide the development of predictive, preventive, or therapeutic measures...
  16. doi request reprint Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    Mark I McCarthy
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Rev Genet 9:356-69. 2008
    ....
  17. ncbi request reprint Genetics of type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital Campus, Old Road, Oxford OX3 7LJ, UK
    Curr Diab Rep 6:147-54. 2006
    ..The advent of genuinely genome-wide association scans and the prospects for combining genetics with high-throughput genomics are additional sources of optimism for the future...
  18. ncbi request reprint Making the right associations
    M I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 48:1241-3. 2005
  19. pmc Genome-wide association studies in type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Curr Diab Rep 9:164-71. 2009
    ....
  20. doi request reprint Dorothy Hodgkin Lecture 2010. From hype to hope? A journey through the genetics of Type 2 diabetes
    M I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Wellcome Trust Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford, UK
    Diabet Med 28:132-40. 2011
    ....
  21. ncbi request reprint Insulin resistance and beta-cell dysfunction in normoglycaemic European women with a history of gestational diabetes
    Eleni Kousta
    Section of Endocrinology and Metabolic Medicine, Imperial College Faculty of Medicine, St Mary s Hospital, London, UK
    Clin Endocrinol (Oxf) 59:289-97. 2003
    ..Women with previous gestational diabetes (GDM) are at increased risk of subsequent type 2 diabetes. To characterize early metabolic abnormalities associated with this increased risk, we studied normoglycaemic women with a history of GDM...
  22. pmc New methods for finding disease-susceptibility genes: impact and potential
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, and Wellcome Trust Centre for Human Genetics, Headington, Oxford 0X3 7LJ, UK
    Genome Biol 4:119. 2003
    ..Improved techniques for defining disease-gene location and evaluating the biological candidacy of regional transcripts will hasten disease-gene discovery...
  23. ncbi request reprint Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital Site, Headington, Oxford OX3 7LJ and Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK
    Hum Mol Genet 13:R33-41. 2004
    ....
  24. ncbi request reprint Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1884-9. 2006
    ....
  25. ncbi request reprint The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults
    Minal 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...
  26. ncbi request reprint Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Site, Old Road, Headington, Oxford OX3 7LJ, U K
    Diabetes 52:1300-5. 2003
    ....
  27. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria 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...
  28. pmc Variants in MTNR1B influence fasting glucose levels
    Inga Prokopenko
    1 Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK 2 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK 3 These authors contributed equally to this work
    Nat Genet 41:77-81. 2009
    ..Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci...
  29. ncbi request reprint 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 approach
    Anna 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...
  30. pmc Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
    Nicholas J Timpson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:505-10. 2009
    ..This study examined how differences in the BMI distribution of type 2 diabetic case subjects affected genome-wide patterns of type 2 diabetes association and considered the implications for the etiological heterogeneity of type 2 diabetes...
  31. ncbi request reprint Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Diabetes 55:2640-4. 2006
    ..4 x 10(-14) combining case-control and family-based analyses for rs4506565) exceeds genome-wide significance criteria and clearly establishes TCF7L2 as a type 2 diabetes susceptibility gene of substantial importance...
  32. ncbi request reprint Metabolic syndrome in polycystic ovary syndrome
    Thomas M Barber
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University, Oxford, UK
    Endokrynol Pol 58:34-41. 2007
    ..We also review the literature on the prevalence of MS in women with PCOS and consider the impact that the particular criteria used to diagnose both MS and PCOS may have had on these estimates of prevalence...
  33. ncbi request reprint Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Eur J Hum Genet 15:679-84. 2007
    ..In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded...
  34. doi request reprint Serum levels of retinol-binding protein 4 and adiponectin in women with polycystic ovary syndrome: associations with visceral fat but no evidence for fat mass-independent effects on pathogenesis in this condition
    Thomas M Barber
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, United Kingdom
    J Clin Endocrinol Metab 93:2859-65. 2008
    ..Insulin resistance, which associates with levels of retinol-binding protein 4 (RBP4) and adiponectin, is implicated in the development of polycystic ovary syndrome (PCOS)...
  35. ncbi request reprint Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years
    Sreena Das
    Women s Centre Level 3, University of Oxford, Oxford OX3 7LJ, United Kingdom
    J Clin Endocrinol Metab 92:3219-23. 2007
    ..In small studies, variation within the OriB origin of replication (at mt16189 in particular) has been associated with both early growth and adult metabolic phenotypes and may contribute to life-course relationships between the two...
  36. ncbi request reprint Metabolic characteristics of women with polycystic ovaries and oligo-amenorrhoea but normal androgen levels: implications for the management of polycystic ovary syndrome
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK
    Clin Endocrinol (Oxf) 66:513-7. 2007
    ..We characterized the metabolic and endocrine profiles of PCOS women who are oligomenorrhoeic but normoandrogenaemic, and compared these to other PCOS women and controls...
  37. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria 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...
  38. ncbi request reprint Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes
    Maria Gueorguiev
    Reader in Endocrine Research, Department of Endocrinology, Room 114C, John Vane Science Centre, Barts and the London Medical School, Charterhouse Square, London, UK
    J Clin Endocrinol Metab 92:2201-4. 2007
    ..Recently, a quantitative trait locus for stature was reported on chromosome 3p26 in patients with type 2 diabetes...
  39. ncbi request reprint Sustained endogenous glucose production, diminished lipolysis and non-esterified fatty acid appearance and oxidation in non-obese women at high risk of type 2 diabetes
    Shareen Forbes
    Section of Endocrinology and Metabolic Medicine, Faculty of Medicine, Imperial College London, St Mary s Hospital, 2nd Floor, Mint Wing, Praed Street, London W2 1NY, UK
    Eur J Endocrinol 155:469-76. 2006
    ..To evaluate early defects in glucose production, lipolysis and fatty acid oxidation in non-obese, normally glucose tolerant women, who are nevertheless at risk of type 2 diabetes...
  40. ncbi request reprint Growing evidence for diabetes susceptibility genes from genome scan data
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
    Curr Diab Rep 3:159-67. 2003
    ..The current and future value of genome-wide linkage information in the search for type 2 diabetes susceptibility effects is also discussed...
  41. pmc Evaluating the results of genomewide linkage scans of complex traits by locus counting
    Steven Wiltshire
    Imperial College Genetics and Genomics Research Institute, Imperial College, London, United Kingdom
    Am J Hum Genet 71:1175-82. 2002
    ..By taking account of the effects of reduced data informativeness on the expected number of regions showing evidence for linkage, a more meaningful, and less conservative, evaluation of the results from such linkage studies is possible...
  42. ncbi request reprint Global adiposity rather than abnormal regional fat distribution characterizes women with polycystic ovary syndrome
    Thomas M Barber
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, United Kingdom
    J Clin Endocrinol Metab 93:999-1004. 2008
    ..Obesity-related predisposition to polycystic ovary syndrome (PCOS) could reflect overall adiposity and/or regional accumulation of abdominal visceral fat...
  43. pmc Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q
    Inga Prokopenko
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:1704-9. 2009
    ..We performed common variant fine-mapping across a 23-Mb interval in a multiethnic sample to search for variants responsible for this linkage signal...
  44. doi request reprint Ghrelin levels are suppressed and show a blunted response to oral glucose in women with polycystic ovary syndrome
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
    Eur J Endocrinol 158:511-6. 2008
    ..Abnormal ghrelin regulation may influence the development of obesity-associated conditions including polycystic ovary syndrome (PCOS). Our aim was to compare ghrelin regulation between PCOS cases and controls...
  45. pmc Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations
    Katharine R Owen
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, U K
    Diabetes Care 33:1919-24. 2010
    ..We hypothesized that serum levels of high-sensitivity C-reactive protein (hs-CRP) could represent a clinically useful biomarker for the identification of HNF1A mutations causing maturity-onset diabetes of the young (MODY)...
  46. ncbi request reprint Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits
    Brenda L Powell
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    J Clin Endocrinol Metab 90:2988-93. 2005
    ..Variation at the insulin gene VNTR (variable number tandem repeat) minisatellite has been reported to be associated with polycystic ovary syndrome (PCOS), but findings have been inconsistent and all studies have featured small sample sizes...
  47. doi request reprint Patterns of ovarian morphology in polycystic ovary syndrome: a study utilising magnetic resonance imaging
    Thomas M Barber
    Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Eur Radiol 20:1207-13. 2010
    ..To evaluate and compare MRI-based ovarian morphology in groups of women with polycystic ovary syndrome (PCOS) and controls...
  48. pmc Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes
    Aparna Pal
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes Care 33:252-7. 2010
    ..We evaluated serum 1,5AG in a range of diabetes subtypes as an adjunct for defining diabetes etiology...
  49. ncbi request reprint Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Diabetes 55:2541-8. 2006
    ..These data exclude USF1 as a major contributor to type 2 diabetes susceptibility and the basis for the chromosome 1q linkage. They reveal only limited evidence for replication of USF1 effects on continuous metabolic traits...
  50. pmc A powerful approach to sub-phenotype analysis in population-based genetic association studies
    Andrew P Morris
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genet Epidemiol 34:335-43. 2010
    ....
  51. pmc Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects
    Katharine 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)...
  52. ncbi request reprint How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage
    Steven Wiltshire
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genet Epidemiol 28:1-10. 2005
    ....
  53. ncbi request reprint An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 37:1320-2. 2005
    ....
  54. pmc Genome-wide association scan allowing for epistasis in type 2 diabetes
    Jordana T Bell
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Ann Hum Genet 75:10-9. 2011
    ..Our results demonstrate the feasibility of systematic scans in GWA data, but confirm that single-locus association can underlie and obscure multilocus findings...
  55. doi request reprint Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity
    Cecilia M Lindgren
    Wellcome Trust Centre for Human Genetics at the University of Oxford, Oxford, UK
    Nat Clin Pract Endocrinol Metab 4:156-63. 2008
    ..Second, with continuing efforts to identify additional genetic variants, it may become possible to use patterns of predisposition to tailor individual management of these conditions...
  56. ncbi request reprint Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 53:3319-22. 2004
    ....
  57. ncbi request reprint Identifying susceptibility variants for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK
    Methods Mol Biol 376:235-50. 2007
    ....
  58. ncbi request reprint Genome-wide association scans for Type 2 diabetes: new insights into biology and therapy
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Trends Pharmacol Sci 28:598-601. 2007
    ..Here, we provide an overview of the main recent findings and discuss their significance in providing biological insights and their translational implications...
  59. doi request reprint Type 2 diabetes: new genes, new understanding
    Inga Prokopenko
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Trends Genet 24:613-21. 2008
    ....
  60. ncbi request reprint Genetics of type 2 diabetes mellitus and obesity--a review
    Bahram Jafar-Mohammadi
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
    Ann Med 40:2-10. 2008
    ..Recent advances in the identification of genes underlying multifactorial forms of these conditions will accelerate efforts to effect similar clinical translation across the full spectrum of disease...
  61. ncbi request reprint Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24
    Steven Wiltshire
    Wellcome Trust Centre for Human Genetics, Oxford, U K
    Diabetes 53:855-60. 2004
    ..These data provide additional evidence that genes mapping to these chromosomal regions are involved in the susceptibility to, and/or development of, type 2 diabetes...
  62. pmc Genetic loci influencing kidney function and chronic kidney disease
    John C Chambers
    Department of Epidemiology and Biostatistics, School of Public Health, Imperial College of London, London, UK
    Nat Genet 42:373-5. 2010
    ..0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease...
  63. ncbi request reprint Genetics of type 2 diabetes
    Katharine 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
    ....
  64. ncbi request reprint Elevation of soluble E-selectin levels following gestational diabetes is restricted to women with persistent abnormalities of glucose regulation
    Natasha J Lawrence
    Section of Endocrinology and Metabolic Medicine, Imperial College School of Medicine, St Mary s Hospital, London, UK
    Clin Endocrinol (Oxf) 56:335-40. 2002
    ..To explore the basis for these discrepant findings, we studied the relationship between sE-selectin and glucose regulation in a large group of women with previous gestational diabetes...
  65. ncbi request reprint Variation at the IRF2 gene and susceptibility to psoriasis in chromosome 4q-linked families
    James Parkinson
    Division of Medicine and Imperial College Genetics and Genomics Research Institute, Imperial College, London, UK
    J Invest Dermatol 122:640-3. 2004
    ..These diverse lines of inquiry allow us to exclude variation in IRF2 as responsible for the 4q-linkage signal previously identified in Irish pedigrees...
  66. ncbi request reprint Delayed metabolic and thermogenic response to a mixed meal in normoglycemic European women with previous gestational diabetes
    Eleni Kousta
    Section of Endocrinology and Metabolic Medicine, Imperial College Faculty of Medicine, St Mary s Hospital, Norfolk Place, London W2 1PG, UK
    J Clin Endocrinol Metab 87:3407-12. 2002
    ..The decrease in fidgeting activity while resting, observed in the post-GDM group, may have physiological significance for energy balance...
  67. pmc Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes
    Bahram Jafar-Mohammadi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    PLoS ONE 4:e6615. 2009
    ....
  68. pmc Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution
    Cecilia M Lindgren
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 5:e1000508. 2009
    ..By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity...
  69. pmc Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies
    Katherine S Elliott
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e10858. 2010
    ..We aimed to identify whether these variants may have an effect on cancer risk in general versus a specific effect on prostate cancer only...
  70. pmc Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
    John C Chambers
    Department of Epidemiology and Public Health, Imperial College London, London, UK
    Nat Genet 41:1170-2. 2009
    ..13 (95% CI 0.09-0.17) g/dl lower per copy of allele A (P = 1.6 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance...
  71. ncbi request reprint Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort
    Amanda J Bennett
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK
    Diabetes 53:2126-31. 2004
    ..09). Studies of this large population-based cohort have failed to generate convincing evidence that INS-VNTR variation influences early growth...
  72. pmc Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility
    Michael N Weedon
    Am J Hum Genet 73:1208-12. 2003
  73. ncbi request reprint The fat mass- and obesity-associated locus and dietary intake in children
    Nicholas J Timpson
    MRC CAiTE Centre, Department of Social Medicine, Bristol University, Bristol, UK
    Am J Clin Nutr 88:971-8. 2008
    ..A region of chromosome 16 containing the fat mass-and obesity-associated gene (FTO) is reproducibly associated with fat mass and body mass index (BMI), risk of obesity, and adiposity...
  74. doi request reprint Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries
    Stephen Franks
    Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Hospital, London W12 0NN, United Kingdom
    J Clin Endocrinol Metab 93:3396-402. 2008
    ..Polycystic ovary syndrome (PCOS) is a common endocrinopathy of uncertain etiology but with strong evidence for a genetic contribution...
  75. ncbi request reprint Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population
    Rachel M Freathy
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    JOP 7:295-302. 2006
    ..The single nucleotide polymorphisms C-2578A (rs699947), G-1154A (rs1570360) and G-634C (rs2010963) in the 5'-region of VEGF are associated with altered serum concentrations of the protein...
  76. ncbi request reprint Development of polycystic ovary syndrome: involvement of genetic and environmental factors
    Stephen Franks
    Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Hospital, UK
    Int J Androl 29:278-85; discussion 286-90. 2006
    ..In this review, this hypothesis is explored in the light of clinical, biochemical and genetic research...
  77. ncbi request reprint A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population
    Michael 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...
  78. ncbi request reprint Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus
    Shiro Maeda
    Laboratory for Diabetic Nephropathy, SNP Research Center, The Institute of Physical and Chemical Research, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa, 230 0045, Japan
    J Hum Genet 50:283-92. 2005
    ..These results suggest that TFAP2B might be a new candidate for conferring susceptibility to type 2 diabetes and contribute to the pathogenesis of type 2 diabetes...
  79. ncbi request reprint Remapping the insulin gene/IDDM2 locus in type 1 diabetes
    Bryan J Barratt
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Diabetes 53:1884-9. 2004
    ....
  80. ncbi request reprint Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone
    Michelle Gaasenbeek
    Genomic Medicine, Faculty of Medicine, Reproductive and Developmental Biology, Imperial College, Hammersmith Campus, London W12 0NN, United Kingdom
    J Clin Endocrinol Metab 89:2408-13. 2004
    ..These studies indicate that the strength of, and indeed the existence of, associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies...
  81. ncbi request reprint Manifestations of metabolic syndrome after hypertensive pregnancy
    Anneli Pouta
    Academy of Finland, Department of Public Health Science and General Practice, University of Oulu, Aapistie 1, PO Box 5000, FIN 90014 University of Oulu, Finland
    Hypertension 43:825-31. 2004
    ..The associations remained after adjustment for participant's own birth weight or gestational age. Women born before gestational week 37 had a 2-fold risk for gestational hypertension in their first pregnancy (RR: 2.53; 95% CI: 1.0, 6.2)...
  82. ncbi request reprint Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11
    Timothy M Frayling
    Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Diabetes 52:1857-63. 2003
    ..Our data confirm our hypothesis that families segregating young-onset type 2 diabetes represent a more powerful resource for defining susceptibility genes by linkage...
  83. ncbi request reprint 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 diabetes
    Anna 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...
  84. ncbi request reprint Hormonal profile of women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland birth cohort 1966 study
    Saara Taponen
    Department of Clinical Chemistry, University of Oulu and Oulu University Hospital, 90014 Oulu, Finland
    J Clin Endocrinol Metab 88:141-7. 2003
    ..These symptoms are markers of the underlying metabolic alterations possibly associated with increased health risks in later life...
  85. ncbi request reprint Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome
    Lema Haddad
    Complex Traits Analysis Group, Department of Medicine, Imperial College Genetics and Genomics Research Institute, Imperial College School of Medicine, London W12 0NN, UK
    J Clin Endocrinol Metab 87:2606-10. 2002
    ..40-1.71). No associations were seen with intermediate traits of relevance to diabetes and PCOS pathogenesis. We have found no evidence from these analyses that CAPN10 gene variation influences susceptibility to PCOS...
  86. pmc The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
    Rachel M Freathy
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    BMC Med Genet 7:51. 2006
    ..We performed a large case-control and family-based study to test the hypothesis that KL-VS is associated with type 2 diabetes in a UK Caucasian population...
  87. ncbi request reprint Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome
    Nicole Draper
    Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Clin Endocrinol (Oxf) 65:64-70. 2006
    ....
  88. pmc Metabolic profiling reveals a contribution of gut microbiota to fatty liver phenotype in insulin-resistant mice
    Marc Emmanuel Dumas
    Department of Biological Chemistry, Imperial College London, South Kensington, London SW7 2AZ, United Kingdom
    Proc Natl Acad Sci U S A 103:12511-6. 2006
    ..These data also indicate that gut microbiota may play an active role in the development of insulin resistance...
  89. pmc A genome-wide association study identifies protein quantitative trait loci (pQTLs)
    David Melzer
    Department of Epidemiology and Public Health, Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Devon, United Kingdom
    PLoS Genet 4:e1000072. 2008
    ..These include the presence of strong genetic effects in cis locations. The identification of protein quantitative trait loci (pQTLs) may be a powerful complementary method of improving our understanding of disease pathways...
  90. pmc Common variants near MC4R are associated with fat mass, weight and risk of obesity
    Ruth J F Loos
    MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nat Genet 40:768-75. 2008
    ....
  91. pmc Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI
    Rachel M Freathy
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Rd, Exeter, EX1 2LU, UK
    Diabetes 57:1419-26. 2008
    ..Increased BMI is associated with diabetes risk factors, including raised insulin, glucose, and triglycerides. We aimed to test whether FTO genotype is associated with variation in these metabolic traits...
  92. pmc Regulation of Fto/Ftm gene expression in mice and humans
    George Stratigopoulos
    Division of Molecular Genetics, Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA
    Am J Physiol Regul Integr Comp Physiol 294:R1185-96. 2008
    ..Animals and humans with various genetic interruptions of FTO or FTM have phenotypes reminiscent of aspects of the Bardet-Biedl obesity syndrome, a confirmed "ciliopathy." FTM has recently been shown to be a ciliary basal body protein...
  93. pmc Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium
    Weihua Guan
    Department of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109 2029, USA
    Hum Hered 66:35-49. 2008
    ..The International Type 2 Diabetes Linkage Analysis Consortium was formed to localize type 2 diabetes predisposing variants based on 23 autosomal linkage scans...
  94. pmc Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    Paul R Burton
    Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
    Nat Genet 39:1329-37. 2007
    ....
  95. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy 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...
  96. pmc Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits
    Winston S Chu
    Division of Endocrinology 111J 1 LR, Department of Medicine, University of Arkansas for Medical Sciences, John L McClellan Memorial Veterans Hospital, 4700 W 7th Street, Little Rock, AR 72205, USA
    Diabetes 56:856-62. 2007
    ..ATF6 does not appear to play a major role in type 2 diabetes, but further work is required to identify the cause of the allelic expression imbalance...
  97. ncbi request reprint Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
    Wendy Winckler
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Diabetes 56:685-93. 2007
    ..We conclude that although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes...
  98. pmc Combining information from common type 2 diabetes risk polymorphisms improves disease prediction
    Michael 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...
  99. ncbi request reprint Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes
    Swapan Kumar Das
    Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    Diabetes 55:2631-9. 2006
    ..Our data suggest that sequences in or upstream of DUSP12 may contribute to type 2 diabetes susceptibility, but the lack of replication suggests a small effect size...
  100. pmc Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes
    Steven Wiltshire
    Imperial College Genetics and Genomics Research Institute and Division of Medicine, Imperial College, London, United Kingdom
    Am J Hum Genet 70:543-6. 2002
    ..Our findings extend similar recent studies in Scandinavian and Quebecois populations, adding further evidence that height is indeed under the control of multiple genes...

Research Grants5

  1. The international 1q type 2 diabetes consortium
    Mark McCarthy; Fiscal Year: 2006
    ..This information will contribute to future diagnostic and therapeutic advances in the clinical management of this condition. ..
  2. The international 1q type 2 diabetes consortium
    Mark McCarthy; Fiscal Year: 2007
    ..This information will contribute to future diagnostic and therapeutic advances in the clinical management of this condition. ..
  3. The international 1q type 2 diabetes consortium
    Mark McCarthy; Fiscal Year: 2009
    ..This information will contribute to future diagnostic and therapeutic advances in the clinical management of this condition. ..
  4. The international 1q type 2 diabetes consortium
    MARK IAN MCCARTHY; Fiscal Year: 2010
    ..This information will contribute to future diagnostic and therapeutic advances in the clinical management of this condition. ..