About Sickkids
About SickKids

Andrew Paterson, MD

Research Institute
Senior Scientist
Genetics & Genome Biology

University of Toronto
Associate Professor
Dalla Lana School of Public Health

Chair Positions

Canada Research Chair
Genetics of Complex Diseases

Phone: 416-813-6994
e-mail: andrew.paterson@utoronto.ca

Brief Biography

I received a medical degree from the University of Glasgow in 1995 and from 1996-2000 I was a post-doctoral fellow at the University of Toronto. From 2000-2001 I was a Research Associate at The Centre  for Applied Genomics at Sickkids. In 2001, I become a Scientist in Genetics and Genome Biology and in 2008 I was promoted to Senior Scientist.

Research Interests

My interests focus on human genetics. Specifically, we work on the identification of genetic risk factors for complications of type 1 diabetes - specifically eye and renal disease. We have been using clinical data and genetic material from individuals who participated in the Diabetes Control and Complications Trial, a very important clinical trial in type 1 diabetes to identify genetic variations that are associated with the risk of eye and kidney disease. In addition, we are using data from the same individuals to identify genetic factors that are associated with the major risk factors for these diseases, including blood glucose level and blood pressure.

Our future plans are to continue the understanding of the genetic basis of both the risk factors for diabetes complications as well as the complications themselves, with the goal of understanding the mechanisms involved. Identification of novel mechanisms could result in improved screening, as well as new treatments.

We also work on a number of other, mostly common diseases.

Research Activities

Type 1 diabetes (previously called insulin-dependent diabetes) is a common complex disease defined by absence of insulin secretion from B-cells in the pancreas. Persons with type 1 diabetes require life-long insulin to survive. Living with mildly elevated blood glucose for decades results in complications which include damage to the eyes, blood vessels and kidneys. The onset of type 1 diabetes occurs commonly in childhood or early adulthood and the lifetime risk in Caucasians is approximately 1:300. The pathogenesis of type 1 diabetes is thought to be predominantly autoimmune in nature.

Genetic factors are important in the etiology of type 1 diabetes, as shown by twin, family and molecular studies. Identical co-twins of persons with type 1 diabetes have a 70 per cent chance of being affected by 35 years of age. Fraternal (i.e. non-identical) twins of persons with type 1 diabetes have a 13 per cent risk to develop type 1 diabetes, similar to the risk to siblings. Family studies show that type 1 diabetes clusters in families. Molecular genetic studies have shown linkage and association of variations in specific genes with type 1 diabetes: class II HLA loci on the short arm of chromosome 6, and a complex repetitive polymorphism near the insulin gene on the short arm of chromosome 11. However, variation in these two genes accounts for only a half of the genetic effects - it is thought there are over 20 additional genes in which variation alters a person's susceptibility to type 1 diabetes. We are using a number of strategies to attempt to identify these additional susceptibility loci.

Future Research Interests

Future projects include genetic studies of type 1 diabetes using families from the Canadian province of Newfoundland. Also we will be performing genetic studies of type 1 diabetes and specific diabetic complications, specifically retinopathy, nephropathy and cardiovascular disease, using families that participated in the Diabetes Control and Complications Trial (DCCT, now called the Epidemiology of Diabetes Interventions and Complications, EDIC).

External Funding

  • Canadian Institutes of Health Research
  • National Institutes of Health
  • Genome Canada
  • Ontario Research Fund


Canada Research Chair in Genetics of Complex Diseases (2002 - 2012)


Niina Sandholm, Rany M Salem, Amy Jayne McKnight, Eoin P Brennan, Tamara Isakova, Carol Forsblom, Gareth J McKay, Winfred W Williams, Denise M Sadlier, Ville-Petteri Mäkinen, Elizabeth J Swan, Cameron Palmer, Andrew P Boright, Claes Ladenvall, Samy Hadjadj, Harshal A Deshmukh, Benjamin J Keller, Aila Ahola, Emma Fagerholm, Daniel Gordin, Valma Harjutsalo, Bing He, Outi Heikkilä, Kustaa Hietala, Janne Kytö, Päivi Lahermo, Markku Lehto, Anne-May Österholm, Maija Parkkonen, Janne Pitkäniemi, Milla Rosengård-Bärlund, Markku  Saraheimo, Cinzia Sarti, Jenny Söderlund, Aino Soro-Paavonen, Anna Syreeni, Lena M Thorn, Heikki Tikkanen, Nina Tolonen, Karl Tryggvason, Jaakko Tuomilehto, Johan Wadén, Geoffrey V Gill, Sarah Prior, Candace Guiducci4, Daniel B Mirel, Andrew Taylor, Mohsen Hosseini, DCCT/EDIC Research Group, Hans-Henrik Parving, Peter Rossing, Lise Tarnow, Emma Ahlqvist, François Alhenc-Gelas, Pierre Lefebvre, Vincent Rigalleau, Roussel Ronan, David-Alexandr  e Tregouet, Anna Maestroni, Silvia Maestroni, Henrik Falhammar, Tianwei Gu, Anna Möllsten, Dan Cimponeriu, Ioana Mihai, Maria Mota, Eugen Mota, Cristian Serafinceanu, Monica Stavarachi, Robert L Hanson, Robert G Nelson, Matthias Kretzler, Helen M Colhoun, Nicolae Mircea Panduru, Harvest F Gu, Kerstin Brismar, Gianpaolo Zerbini, Michel Marre, Leif Groop, Maria Lajer, Shelley B Bull, Daryl Waggott, Andrew D Paterson, David A Savage, Stephen Bain, Finian Martin, Joel N Hirschhorn, Catherine Godson, Jose C Florez, Per-Henrik Groop and Alexander P Maxwell (2012) New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genetics 8(9) e1002921.

Hotaling JM, Waggott DR, Goldberg J, Jarvik G, Paterson AD, Cleary PA, Lachin J, Sarma A, Wessells H; DCCT/EDIC Research Group (2012) Pilot Genome-Wide Association Search Identifies Potential Loci for Risk of Erectile Dysfunction in Type 1 Diabetes Using the DCCT/EDIC Study Cohort. Journal of Urology. 2012 Jun 13.

Paterson AD, Bull SB (in press) Does familial clustering of risk factors for long-term diabetic complications leave any place for genes that independently? Journal of Cardiovascular Translational Research. 5(4):388-98.

Kristen N. Stevens, Sara Lindstrom, Christopher G. Scott, Deborah Thompson, Thomas A. Sellers, Xianshu Wang, Alice Wang, Elizabeth Atkinson, David N. Rider, Jeanette E. Eckel-Passow, Jajini S. Varghese, Tina Audley, Judith Brown, Jean Leyland, Robert N. Luben, Ruth M.L. Warren, Ruth J.F. Loos, Nicholas J. Wareham, Jingmei Li, Per Hall, Jianjun Liu, Louise Eriksson, Kamila Czene, Janet E. Olson, V. Shane Pankratz, Zachary Fredericksen, Robert B. Diasio, Adam M. Lee, John A. Heit, Mariza deAndrade, Ellen L. Goode, Robert A. Vierkant, Julie M. Cunningham, Sebastian M. Armasu, Richard Weinshilboum, Brooke L. Fridley, Anthony Batzler, James N. Ingle, Norman F. Boyd, Andrew D. Paterson, Johanna Rommens, Lisa J. Martin, John L. Hopper, Melissa C. Southey, Jennifer Stone, Carmel Apicella, Peter Kraft, Susan E. Hankinson, Aditi Hazra, David J. Hunter, Douglas F. Easton, Fergus J. Couch, Rulla M. Tamimi, Celine M. Vachon (2012) Identification of a novel locus for percent mammogr  aphic density at 12q24. Human Molecular Genetics. 21(14):3299-305.

 van Koolwijk LME, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, Macgregor S, Janssen SF, Hewitt AW, WTCCC2-first,  ten Brink J, Hosseini SM, Amin N, Dominiek D.G., Despriet, J.J.M. Willemse-Assink, R.Kramer, Fernando Rivadeneira Ramirez, Struchalin M, Aulchenko YS, N. Weisschuh, Mardin CY, Gramer E, Welge-Lüssen U, Montgomery GW, Carbonaro F, Young, TL , the DCCT/EDIC research group, M.A. Czudowska, Hofman A, Uitterlinden AG, Wolfs RCW, Paulus T.V.M. de Jong, Oostra BA, Paterson AD, Mackey DA, Bergen AAB, Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CCW, van Duijn CM (2012) Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma. PLos Genetics. 8(5):e1002611.

Greenwood CMT, Paterson AD, Linton L, Andrulis IL, Apicella C, Dimitromanolakis A, Kriukov V, Martin LJ, Salleh A, Samiltchuk E, Parekh RV, Southey MC, John EM, Hopper JL, Boyd NF, Rommens JM (2011) A genome-wide linkage study of mammographic density, a risk factor for breast cancer. Breast Cancer Research 13(6):R132.

Liu XQ, Georgiades S, Duku E, Thompson A, Devlin B, Cook EH, Wijsman EM, Paterson AD, Szatmari P, The Autism Genome Project (2011) Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry 50: 687-696.

Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham N, Loos RJF, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, dos Santos Silva I, Liu J, Eriksson L, Couch FJ, Stone J, Apicella L, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM (2011) Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nature Genetics 43 185-7.

Böger CA, Chen MH, Tin A, Olden M, Köttgen A, Deboer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tönjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarød K, Skorpen F, Syvänen AC, Illig T, Baumert J, Koenig W, Krämer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Völzke H, Stumvoll M, Mägi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia S  L, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlöv J, Hallan S, Navis G; the CKDGen Consortium, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson AD on behalf of DCCT/EDIC, Wichmann HE, Wareham NJ, Loos RJ, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WH. (2011) CUBN is a gene locus for Albuminuria. Journal of the American Society of Nephrology 22: 555-570

Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband, HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B (2010) Specific Variants in the MLH1 Gene Region May Drive DNA Methylation, Loss of Protein Expression, and MSI-H Colorectal Cancer. Plos One 5:e13314.

Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CPM (2010) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood, 115: 1264-6.

Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM, MAGIC, Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB, and The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (2010) A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes, 59: 539-549.

Paterson AD, Lopes-Virella MF, Waggott D, Boright AP, Hosseini SM, Carter RE, Shen E, Mirea L, Bharaj B, Sun L, Bull SB, and The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (2009) Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-Selectin. Atherosclerosis, Thrombosis, and Vascular Biology, 29:1958-67.

Wilcox MA, Paterson AD (2009). Phenotype definition and development – contributions from Group 7. Genetic Epidemiology 33 (S1) S40-S44.

Nolte IM, Wallace C, Newhouse SJ, Waggott D, Fu J, Soranzo N, Gwilliam R, Deloukas P, Savelieva I, Zheng D, Dalageorgou C, Farrall M, Samani NJ, Connell J, Brown M, Dominiczak A, Lathrop M, Zeggini E, Wain LV, The Wellcome Trust Case Control Consortium, The DCCT/EDIC Research Group, Newton-Cheh C, Eijgelsheim M, Rice K, de Bakker PI, QTGEN consortium, Pfeufer A, Sanna S, Arking DE, QTSCD consortium, Asselbergs, FW, Spector TD, Carter ND, Jeffery S, Tobin M, Caulfield M, Snieder H, Paterson AD, Munroe PB, Jamshidi Y (2009) Common genetic bariation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One 9: e6138.

Pezzolesi MG, Poznik GD, Mychaleckyj JC, Paterson AD, Barati MT, Klein JB, Ng DPK, Placha G, Canani LH, Bochenski J, Waggott D, Merchant ML, Krolewski B, Mirea L, Wanic K, Katavetin P, Kure M, Wolkow P, Dunn JS, Smiles A, Walker WH, Boright AP, Bull SB, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group, Doria A, Rogus JJ, Rich SS, Warram JH, Krolewski AS (2009) Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes 58: 1403-10.

Paterson AD, Waggott D, Schillert A, Infante-Rivard C, Bull SB, Yoo YJ, Pinnaduwage D (2009) Transmission ratio distortion in the Framingham Heart Study. BMC Proceedings 3(S7): S51.

Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CPM (2009) Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood, 113, 1543-6.

Grant SFA, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D, Paterson AD, Monos DS, The DCCT/EDIC Research Group, Polychronakos C, Hakonarson H (2009) Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes. 58:290-5.

Liu XQ, Paterson AD, Szatmari P and The Autism Genome Project Consortium (2008) Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biological Psychiatry.;64:561-570.

Liu XQ, Paterson AD, He N, St. George-Hyslop P, Rauta V, Gronhagen-Riska C, Laakso M, Thibaudin L, Berthoux F, Cattran D, Pei Y (2008) IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy. Journal of the American Society of Nephrology 19:1025-33.

Al-Kateb H, Boright AP, Mirea L, Xie X, Sutradhar R, Mowjoodi A, Bharaj B, Liu M, Bucksa JM, Arends VL, Steffes MW, Cleary PA, Sun W, Lachin JM, Thorner PS, Ho M, McKnight AJ, Maxwell PA, Savage DA, Kidd KK, Kidd JR, Speed WC, Orchard TJ, Miller RG, Sun L, Bull SB, Paterson AD and the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group research group (2008). Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics Study. Diabetes 57, 218-228.

Paterson AD, Liu XQ, Wang K, Magistroni R, Song X, Kappel J, Klassen J, Cattran D, St. George-Hyslop P, Pei Y (2007) Localization of a novel disease susceptibility locus to chromosome 2q36 by genome-wide linkage scan of a large Canadian family with IgA nephropathy. Journal of the American Society of Nephrology 18, 2408-15

Paterson AD, Rutledge BN, Cleary PA, Lachin JM, Crow RS and the Diabetes Control and Complications Trial /Epidemiology of Diabetes Interventions and Complications Research Group (2007) The effect of intensive diabetes treatment on resting heart rate in type 1 diabetes: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study. Diabetes Care 30, 2107-2112.

Al-Kateb H, Mirea L, Xie X, Sun L, Liu M, Chen HT, Bull SB, Boright AP, Paterson AD, The DCCT/EDIC Research Group (2007) Multiple variants in vascular endothelial growth factor (VEGFA) are risk factors for time to severe retinopathy in type 1 diabetes: the DCCT/EDIC genetics study. Diabetes 56:2161-8.

Murdoch SJ, Boright AP, Paterson AD, Zinman B, Steffes M, Cleary P, Edwards K, Marcovina SS, Purnell JQ, Brunzell JD and the DCCT/EDIC Research Group (2007) LDL composition in E2/2 subjects and LDL distribution by APOE Genotype in type 1 diabetes. Atherosclerosis. 192 138-47

Wallis RH, Wang KS, Dabrowski D, Marandi L, Ning T, Hsieh E, Paterson AD, Mordes JP, Blankenhorn EP, Poussier P (2007). A novel susceptibility locus on rat chromosome 8 affects spontaneous but not experimentally-induced type 1disease. Diabetes 10.2337/db06-1790

Paterson AD (2006) Genetic epidemiology of type 1 diabetes. Current Diabetes Reports, 6, 139-46.

James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S, Brown C, O’Brien L, Leggo J, Lillicrap D, Association of Hemophilia Clinic Directors of Canada, (2006) Genetic linkage and association analysis in type 1 von Willebrand Disease: results from the Canadian type 1 VWD study. Journal of Thrombosis and Hemostasis 4, 783-792.

Sun L, Craiu RV, Paterson AD, Bull SB (2006) Stratified false discovery control for Large-scale hypothesis testing with application to genome-wide association studies. Genetic Epidemiology 30, 519-530

Liu M, Paterson AD, John EM, Knight JA (2006) The role of self-defined race/ethnicity in population structure control. Annals of Human Genetics. (CPA) doi: 10.1111/j.1529-8817.2005.00255.x

Rafiq MA, Faiyaz-ul-Haque M, Amin ud Din M, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui L-C, Ahmad W (2005) A novel locus of ectodermal dysplasia maps to chromosome 10q 24.32-q25.1. Journal of Investigative Dermatology, 124, 338-342.

Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, Andre C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA (2005) Expanded repeat in canine epilepsy. Science, 307, 81.

Venken T, Claes S, Sluijs S, Paterson AD, van Duijn C, Adolfsson R, Del-Favero J, Van Broeckhoven C (2005) Genomewide scan for affective disorder susceptibility loci in families of a northern Swedish isolated population. American Journal of Human Genetics, 76, 237–248.

Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, Dicks E, Parfrey P, St. George-Hyslop P, Pei Y (2005) Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology, 16, 755-762.

Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD, Hudson TJ, Polychronakos C (2005) Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nature Genetics, 37, 111-112.

Boright AB, Paterson AD, Mirea L, Bull SD, Mowjoodi A, Scherer SW, Zinman B, and the DCCT/EDIC Research Group (2005) Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes. The DCCT/EDIC Genetics Study. Diabetes, 54, 1238-1244.

Tsui HW, Inman RD, Paterson AD, Reveille JD, Tsui FWL (2005) ANKH variants associated with ankylosing spondylitis: gender differences. Arthritis Research and Therapy, 7, R513-R525.

Boyd NF, Rommens JR, Vogt K, Lee V, Hopper JL, Yaffe MJ, Paterson AD (2005) Mammographic density as an intermediate phenotype for breast cancer. The Lancet Oncology, 6, 798-808.

Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui L-C, Teebi AS. (2004) The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9cM region on chromosome 11q23. Clinical Genetics, 65, 137-142.

Newhook LA, Curtis J, Hagerty D, Grant M, Paterson AD, Crummel C, Bridger T, Parfrey P. (2004) High incidence of childhood type 1 diabetes mellitus in the Avalon Peninsula, Newfoundland, Canada. Diabetes Care, 27, 885-888.