Current research

To date, we have conducted a wide range of research on the genetic determinants of diabetes and its complications, and biomarkers of complications. We are studying why some people with Type 1 diabetes retain the ability to produce a small amount of insulin from their pancreas, as we have shown that this protects against hypoglycemia and eye disease. We are currently conducting analyses to identify monogenic diabetes.

Current projects

To date biosamples have been used for DNA extraction and genome-wide genotyping. Serum samples have been used for the measurement of several biomarkers of interest including C-peptide, serum creatinine and auto-antibodies (GAD, ZnT8, IA2). Journal papers reporting on the findings of these studies will be finalized over the coming months. We have also carried out N-glycome analysis on blood samples, which looks at the association between changes in the structure of important signalling complex molecules and the development of diabetic kidney disease. We have measured a range of biomarkers and shown that these help predict kidney disease.

The current research projects in 2023 are:

  • Glycaemia Trajectories in Type 1 Diabetes and their Association with Complications (Diabetes UK)
  • Harnessing Genetic Information in the SDRNT1BIO to Understand Type 1 Diabetes and its complications (Diabetes UK)
  • Misclassification of diabetes type among those with a clinical label of Type 1 diabetes: a study in the Scottish Diabetes Research Network Type 1 Bioresource (Chief Scientist Office/Diabetes UK)
  • The Genetics of C-peptide Persistence and Age of Onset in Type 1 Diabetes.(Medical Research Council/Canadian Institutes of Health Research)
  • The Genetics of Kidney Disease in Diabetes (JDRF) 

Collaboration

We have collaborated with a wide range of international researchers in the research

  • Broad Institute; Massachusetts, USA
  • Folkhälsan/FinnDiane Study Group; Helsinki, Finland
  • Generation Scotland Researchers at University of Edinburgh
  • Genos; Zagreb, Croatia
  • Harvard University, USA
  • Hospital for Sick Children; Toronto, Canada
  • Joslin Diabetes Center; Massachusetts, USA
  • King’s College London
  • Steno Diabetes Center; Copenhagen, Denmark
  • University of California, USA
  • University of Cambridge
  • University of Dundee
  • University of Exeter
  • University of Glasgow
  • University of Michigan, USA
  • University of Pittsburgh, USA
  • University of Toronto, Canada
  • University of Virginia, USA
  • University of Washington, USA
  • University of Wisconsin, USA

Collaborating laboratories that are carrying out biomarker measurements on SDRNT1BIO samples include:

  • Myriad RBM; Texas, USA
  • National Institute of Bioprocessing Research and Training (NIBRT); Dublin, Ireland
  • Immunoassay Biomarker Core Laboratory; Dundee, UK
  • Wellcome Trust Clinical Research Facility; Edinburgh, UK
  • Exeter Clinical Laboratory, Royal Devon and Exeter Hospital; Exeter, UK
  • Well Child Laboratory, King’s College; London, UK

Interested collaborators should contact the Study PI in the first instance, email helen.colhoun@ed.ac.uk

 

Published papers

Abstracts presented

  • Effect of genetic variants in FUT2 gene on risk of type 1 diabetes is explained by effects on plasma levels of NECTIN-2, C-C MOTIF CHEMOKINE 25 and C-C MOTIF CHEMOKINE 15.Iakovliev A, Spiliopoulou A, Colombo M, McGurnaghan SJ, Colhoun HM, McKeigue PM. Poster presentation at Diabetes UK Professional Conference; Liverpool, UK, 26-28 April 2023.
  • Trans-eQTL effects on risk of type 1 diabetes: a test of the sparse effector (omnigenic) hypothesis of complex trait genetics.Iakovliev A. Oral presentation at 17th meeting of the Edinburgh Alliance for Complex Trait Genetics; Edinburgh, UK, 8th March 2023.
  • A test of the sparse effector (omnigenic) hypothesis in autoimmune diseases: case study of T1D and SLE.Iakovliev A. Oral presentation (Seminar) at Pfizer - Universidad de Granada - Junta de Andalucía Centre for Genomics and Oncological Research (GENYO); Granada, Spain, February 2023.
  • Genetic Determinants of Diabetic Retinopathy in People with Type 1 DiabetesMcGurnaghan SJ, Spiliopoulou A, Hatam S, Blackbourn LAK, Palmer CNA, McKeigue PM, Colhoun HM. Poster presentation at European Association for the Study of Diabetes virtual conference, 22-25 September 2020.
  • Genetic determinants of diabetic retinopathy in people with Type 1 DiabetesMcGurnaghan SJ, Spiliopoulou A, Hatam S, Blackbourn LAK, Palmer CNA, McKeigue PM, Colhoun HM. Oral presentation at European Association for the Study of Diabetes virtual conference, 22-25 September 2020.
  • Antibody persistence is common in long standing type 1 diabetesMcGurnaghan SJ, McDonald TJ, Blackbourn LAK, Caparrotta TM, McKeigue PM, Colhoun HM on behalf of the SDRNT1BIO Investigators. Poster presentation at European Association for the Study of Diabetes conference; Barcelona, Spain, 16-20 September 2019
  • Genetic determinants of estimated glomerular filtration rate (eGFR) in Type 1 DiabetesMcGurnaghan SJ, Spiliopoulou A, Blackbourn LAK, McKeigue PM, Colhoun HM on behalf of the SDRNT1BIO Investigators. Poster presentation at American Diabetes Association meeting; San Francisco, USA, 7-11 June 2019
  • Use of C-peptide and autoantibodies in individuals clinically labelled as Type 1 to identify those likely to have Type 2 DiabetesMcGurnaghan SJ, Ochs A, McKeigue PM, Colhoun HM on behalf of the SDRNT1BIO Investigators. Poster presentation at Diabetes UK Professional Conference; Liverpool, UK, 6-8 March 2019
  • C-peptide Persistence in People with Type 1 Diabetes: Predictors and ConsequencesMcKeigue PM, Jeyam A, McGurnaghan SJ, Wulanagish W, Ochs A, Colombo M, Colhoun HM on behalf of SDRNT1BIO investigators. Oral plenary at the Immunology of Diabetes Society international congress; London, UK, October 2018.
  • Genetic determinants of type 1 diabetesSpiliopoulou A, McGurnaghan SJ on behalf of SDRNT1BIO investigators. Oral presentation at European Association for the Study of Diabetes; Berlin, Germany, 1-5 October 2018
  • The association between C-peptide levels and the transition to referable retinopathy in patients with Type 1 DiabetesOchs A, McGurnaghan SJ, Blackbourn LAK, McKeigue PM, Colhoun HM on behalf of SDRNT1BIO investigators. Poster presentation at European Association for the Study of Diabetes; Berlin, Germany, 1-5 October 2018
  • Genotypic Associations with C-peptide Persistence in People with Type 1 DiabetesMcKeigue PM, Spiliopoulou A, McGurnaghan S, Colombo M, McDonald TJ, Colhoun HM on behalf of the SDRNT1BIO investigators. Oral presentation at the American Diabetes Association Meeting; Orlando, USA, 22-26 June 2018
  • A Bayesian approach for the discovery of biomarkers of progression of nephropathyColombo M, Valo E, McGurnaghan S, Dalton RN, Dunger D, Groop PH, McKeigue PM, Forsblom C, Colhoun HM on behalf of the SDRNT1BIO and FinnDIANE investigators. Oral presentation at the 31st Annual General Meeting of the European Diabetic Nephropathy Study Group; Groningen, Netherlands, 18-19 May 2018
  • Polymorphisms in ST3GAL4, ST6GAL1, PHIP, FUT8 are associated with variation within the serum N-glycome of Scottish type 1 diabetes patientsBermingham ML, Colombo M, McGurnaghan SJ, Blackbourn LAK, Vučković F, Pučić Baković M, Lauc G, Agakov FA, Agakov AS, Hayward C, Klaric L, McKeigue PM, Colhoun HM, SDRNT1BIO investigators. Poster presentation at European Association of the Study of Diabetes Annual Meeting; Lisbon, Portugal, 11-15 September 2017.
  • Biomarkers associated with progression of renal disease in type 1 diabetesColombo M, Valo E, McGurnaghan SJ, Blackbourn LAK, Dalton RN, Dunger D, Groop PH, McKeigue PM, Forsblom C, Colhoun HM on behalf of the SDRNT1BIO and FinnDIANE Investigators. Poster presentation at European Association of the Study of Diabetes Annual Meeting; Lisbon, Portugal, 11-15 September 2017.
  • Contemporary Rates and Predictors of Renal Disease Progression in Type 1 DiabetesColombo M, McGurnaghan SJ, Bell S, Palmer CNA, MacKenzie F, Chalmers J, Collier A, Green F, Lindsay RS, Macrury S, McKnight JA, Patrick AW, Pearson DW, Petrie J, Thekkepat S, McKeigue PM, Colhoun HM on behalf of the SDRNT1BIO investigators. Poster presentation at the 77th American Diabetes Association Scientific meeting; San Diego, USA, 9-13 June 2017.
  • Biomarkers associated with progression of renal disease in type 1 diabetesColombo M, Valo E, McGurnaghan SJ, Dalton RN, Dunger D, Groop PH, McKeigue PM, Forsblom C, Colhoun HM, on behalf of the SDRNT1BIO and FinnDIANE Investigators. Oral presentation at the 30th Annual General Meeting of the European Diabetic Nephropathy Study Group; Helsinki, Finland, 19-20 May 2017.
  • Associations of serum N-glycans with glycaemic control and albuminuria in type 1 diabetesColombo M, Vuckovic F, Pucic-Bakovic M, Looker H, Agakov F, Lauc, G, McKeigue PM, Colhoun HM on behalf of the SDRNT1BIO investigators. Poster presentation at European Association of the Study of Diabetes Annual Meeting; Stockholm, Sweden, 14-18 September 2015
  • Patterns of Glucose and Diabetes Management among Scottish Diabetes Research Network Type 1 Diabetes Bioresource (SDRNT1BIO) participantsLooker H, Livingstone S, McGurnaghan SJ, Collier A, Green F, Lindsay RS, MacRury S, McKnight JA, Milburn K, Palmer CAN, Patrick AW, Pearson DWM, Pearson ER, Petrie J, Thekkepat S, Walker J, Colhoun HM on behalf of the SDRNT1BIO investigators. Poster presentation at the Diabetes UK Professional Conference; London, UK, 11-13 March 2015

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