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
- Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the "omnigenic" sparse effector hypothesis of complex trait geneticsIakovliev A, McGurnaghan SJ, Hayward C, Colombo M, Lipschutz D, Spiliopoulou A, Colhoun HM, McKeigue PM.Am J Hum Genet. 2023 Jun 1;110(6):913-926. Epub 2023 May 9.
- Effect of serum sample storage temperature on metabolomic and proteomic biomarkers.Valo E, Colombo M, Sandholm N, McGurnaghan SJ, Blackbourn LAK, Dunger DB, McKeigue PM, Forsblom C, Groop PH, Colhoun HM, Turner C, Dalton RN.Sci Rep. 2022 Mar 17;12(1):4571.
- PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.Sidore C, Orrù V, Cocco E, Steri M, Inshaw JR, Pitzalis M, Mulas A, McGurnaghan S, Frau J, Porcu E, Busonero F, Dei M, Lai S, Sole G, Virdis F, Serra V, Poddie F, Delitala A, Marongiu M, Deidda F, Pala M, Floris M, Masala M, Onengut-Gumuscu S, Robertson CC, Leoni L, Frongia A, Ricciardi MR, Chessa M, Olla N, Lovicu M, Loizedda A, Maschio A, Mereu L, Ferrigno P, Curreli N, Balaci L, Loi F, Ferreli LA, Pilia MG, Pani A, Marrosu MG, Abecasis GR, Rich SS, Colhoun H, Todd JA, Schlessinger D, Fiorillo E, Cucca F, Zoledziewska M.Mult Scler. 2021 Aug;27(9):1332-1340. Epub 2020 Oct 14.
- Quantitative levels of serum N-glycans in type 1 diabetes and their association with kidney disease.Colombo M, Asadi Shehni A, Thoma I, McGurnaghan SJ, Blackbourn LAK, Wilkinson H, Collier A, Patrick AW, Petrie JR, McKeigue PM, Saldova R, Colhoun HM; Scottish Diabetes Research Network (SDRN) Type 1 Bioresource Investigators.Glycobiology. 2021 Jun 3;31(5):613-623.
- Insulin resistance-associated genetic variants in type 1 diabetes.Miller RG, McGurnaghan SJ, Onengut-Gumuscu S, Chen WM, Colhoun HM, Rich SS, Orchard TJ, Costacou T.J Diabetes Complications. 2021 Apr;35(4). Epub 2021 Jan 9.
- Clinical Impact of Residual C-Peptide Secretion in Type 1 Diabetes on Glycemia and Microvascular Complications.Jeyam A, Colhoun H, McGurnaghan S, Blackbourn L, McDonald TJ, Palmer CNA, McKnight JA, Strachan MWJ, Patrick AW, Chalmers J, Lindsay RS, Petrie JR, Thekkepat S, Collier A, MacRury S, McKeigue PM; SDRNT1BIO Investigators.Diabetes Care. 2021 Feb;44(2):390-398. Epub 2020 Dec 10. Erratum in: Diabetes Care. 2021 Feb 5;: Erratum in: Diabetes Care. 2021 Apr;44(4):1072.
- Biomarkers associated with early stages of kidney disease in adolescents with type 1 diabetes.Marcovecchio ML, Colombo M, Dalton RN, McKeigue PM, Benitez-Aguirre P, Cameron FJ, Chiesa ST, Couper JJ, Craig ME, Daneman D, Davis EA, Deanfield JE, Donaghue KC, Jones TW, Mahmud FH, Marshall SM, Neil A, Colhoun HM, Dunger DB; AdDIT and the SDRNT1BIO Investigators.Pediatr Diabetes. 2020 Nov;21(7):1322-1332. Epub 2020 Aug 17.
- Comparison of serum and urinary biomarker panels with albumin/creatinine ratio in the prediction of renal function decline in type 1 diabetes.Colombo M, McGurnaghan SJ, Blackbourn LAK, Dalton RN, Dunger D, Bell S, Petrie JR, Green F, MacRury S, McKnight JA, Chalmers J, Collier A, McKeigue PM, Colhoun HM; Scottish Diabetes Research Network (SDRN) Type 1 Bioresource Investigators.Diabetologia. 2020 Apr;63(4):788-798. Epub 2020 Jan 8.
- Diabetic Neuropathy Is a Substantial Burden in People With Type 1 Diabetes and Is Strongly Associated With Socioeconomic Disadvantage: A Population-Representative Study From Scotland.Jeyam A, McGurnaghan SJ, Blackbourn LAK, McKnight JM, Green F, Collier A, McKeigue PM, Colhoun HM; SDRNT1BIO Investigators.Diabetes Care. 2020 Apr;43(4):734-742. Epub 2020 Jan 23.
- Predicting renal disease progression in a large contemporary cohort with type 1 diabetes mellitus.Colombo M, McGurnaghan SJ, Bell S, MacKenzie F, Patrick AW, Petrie JR, McKnight JA, MacRury S, Traynor J, Metcalfe W, McKeigue PM, Colhoun HM; Scottish Diabetes Research Network (SDRN) Type 1 Bioresource Investigators and the Scottish Renal Registry.Diabetologia. 2020 Mar;63(3):636-647. Epub 2019 Dec 5.
- Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases.Klarić L, Tsepilov YA, Stanton CM, Mangino M, Sikka TT, Esko T, Pakhomov E, Salo P, Deelen J, McGurnaghan SJ, Keser T, Vučković F, Ugrina I, Krištić J, Gudelj I, Štambuk J, Plomp R, Pučić-Baković M, Pavić T, Vilaj M, Trbojević-Akmačić I, Drake C, Dobrinić P, Mlinarec J, Jelušić B, Richmond A, Timofeeva M, Grishchenko AK, Dmitrieva J, Bermingham ML, Sharapov SZ, Farrington SM, Theodoratou E, Uh HW, Beekman M, Slagboom EP, Louis E, Georges M, Wuhrer M, Colhoun HM, Dunlop MG, Perola M, Fischer K, Polasek O, Campbell H, Rudan I, Wilson JF, Zoldoš V, Vitart V, Spector T, Aulchenko YS, Lauc G, Hayward C.Sci Adv. 2020 Feb 19;6(8): eCollection 2020 Feb.
- Genome-wide association study of diabetic kidney disease highlights biology involved in glomerular basement membrane collagenSalem RM, Todd JN, Sandholm N, Cole JB, Chen WM, Andrews D, Pezzolesi MG, McKeigue PM, Hiraki LT, Qiu C, Nair V, Di Liao C, Cao JJ, Valo E, Onengut-Gumuscu S, Smiles AM, McGurnaghan SJ, Haukka JK, Harjutsalo V, Brennan EP, van Zuydam N, Ahlqvist E, Doyle R, Ahluwalia TS, Lajer M, Hughes MF, Park J, Skupien J, Spiliopoulou A, Liu A, Menon R, Boustany-Kari CM, Kang HM, Nelson RG, Klein R, Klein BE, Lee KE, Gao X, Mauer M, Maestroni S, Caramori ML, de Boer IH, Miller RG, Guo J, Boright AP, Tregouet D, Gyorgy B, Snell-Bergeon JK, Maahs DM, Bull SB, Canty AJ, Palmer CNA, Stechemesser L, Paulweber B, Weitgasser R, Sokolovska J, Rovīte V, Pīrāgs V, Prakapiene E, Radzeviciene L, Verkauskiene R, Panduru NM, Groop LC, McCarthy MI, Gu HF, Möllsten A, Falhammar H, Brismar K, Martin F, Rossing P, Costacou T, Zerbini G, Marre M, Hadjadj S, McKnight AJ, Forsblom C, McKay G, Godson C, Maxwell AP, Kretzler M, Susztak K, Colhoun HM, Krolewski A, Paterson AD, Groop PH, Rich SS, Hirschhorn JN, Florez JC; SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium.J Am Soc Nephrol. 2019 Oct;30(10):2000-2016. Epub 2019 Sep 19.
- Biomarker panels associated with progression of renal disease in type 1 diabetes.Colombo M, Valo E, McGurnaghan SJ, Sandholm N, Blackbourn LAK, Dalton RN, Dunger D, Groop PH, McKeigue PM, Forsblom C, Colhoun HM; FinnDiane Study Group and the Scottish Diabetes Research Network (SDRN) Type 1 Bioresource Collaboration.Diabetologia. 2019 Sep;62(9):1616-1627. Epub 2019 Jun 20.
- Persistent C-peptide secretion in Type 1 diabetes and its relationship to the genetic architecture of diabetes.McKeigue PM, Spiliopoulou A, McGurnaghan S, Colombo M, Blackbourn L, McDonald TJ, Onengut-Gomuscu S, Rich SS, Palmer CNA, McKnight JA, J Strachan MW, Patrick AW, Chalmers J, Lindsay RS, Petrie JR, Thekkepat S, Collier A, MacRury S, Colhoun HM.BMC Med. 2019 Aug 23;17(1):165.
- 1695-P: Genetic Determinants of Estimated Glomerular Filtration Rate (eGFR) in Type 1 DiabetesMcGurnaghan S, Spiliopoulou A, Colhoun HM, McKeigue PM.Diabetes. 2019 Jun; 68(S1)
- N-Glycan Profile and Kidney Disease in Type 1 Diabetes.Bermingham ML, Colombo M, McGurnaghan SJ, Blackbourn LAK, Vučković F, Pučić Baković M, Trbojević-Akmačić I, Lauc G, Agakov F, Agakova AS, Hayward C, Klarić L, Palmer CNA, Petrie JR, Chalmers J, Collier A, Green F, Lindsay RS, Macrury S, McKnight JA, Patrick AW, Thekkepat S, Gornik O, McKeigue PM, Colhoun HM; SDRN Type 1 Bioresource Investigators.Diabetes Care. 2018 Jan;41(1):79-87. Epub 2017 Nov 16.
- Cohort Profile: Scottish Diabetes Research Network Type 1 Bioresource Study (SDRNT1BIO).Akbar T, McGurnaghan S, Palmer CNA, Livingstone SJ, Petrie J, Chalmers J, Lindsay RS, McKnight JA, Pearson DWM, Patrick AW, Walker J, Looker HC, Colhoun HM.Int J Epidemiol. 2017 Jun 1;46(3):796-796i.
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