Designing and implementing sample and data collection for an international genetics study: The Type 1 Diabetes Genetics Consortium (T1DGC)

Joan E. Hilner*, Letitia H. Perdue, Elizabeth G. Sides, June J. Pierce, Ana M. Wägner, Alan Aldrich, Amanda Loth, Lotte Albret, Lynne E. Wagenknecht, Concepcion Nierras, Beena Akolkar, Tracey Baskerville, Nines Bautista, Eesh Bhatia, Vijayalakshmi Bhatia, Kamaruzaman Bin Hasan, Francois Bonnici, Thomas Brodnicki, Brian Browning, Fergus CameronKatharee Chaichanwatanakul, Pik To Cheung, Peter Colman, Andrew Cotterill, Jenny Couper, Patricia Crock, Ric Cutfield, Tim Davis, Paul Dixon, Kim Donaghue, Katrina Dowling, Paul Drury, Sarah Dye, Shane Gellert, Rohana Abdul Ghani, Ristan Greer, Xueyao Han, Len Harrison, Nick Homatopoulos, Linong Ji, Tim Jones, Loke Kah Yin, Nor Azmi Kamaruddin, Uma Kanga, Alok Kanungo, Gurvinder Kaur, Betty Kek, Simon Knowles, Jeremy Krebs, Richard Christensen, the T1DGC

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Background and Purpose The Type 1 Diabetes Genetics Consortium (T1DGC) is an international project whose primary aims are to: (a) discover genes that modify type 1 diabetes risk; and (b) expand upon the existing genetic resources for type 1 diabetes research. The initial goal was to collect 2500 affected sibling pair (ASP) families worldwide. Methods T1DGC was organized into four regional networks (Asia-Pacific, Europe, North America, and the United Kingdom) and a Coordinating Center. A Steering Committee, with representatives from each network, the Coordinating Center, and the funding organizations, was responsible for T1DGC operations. The Coordinating Center, with regional network representatives, developed study documents and data systems. Each network established laboratories for: DNA extraction and cell line production; human leukocyte antigen genotyping; and autoantibody measurement. Samples were tracked from the point of collection, processed at network laboratories and stored for deposit at National Institute for Diabetes and Digestive and Kidney Diseases (NIDDK) Central Repositories. Phenotypic data were collected and entered into the study database maintained by the Coordinating Center. Results T1DGC achieved its original ASP recruitment goal. In response to research design changes, the T1DGC infrastructure also recruited trios, cases, and controls. Results of genetic analyses have identified many novel regions that affect susceptibility to type 1 diabetes. T1DGC created a resource of data and samples that is accessible to the research community. Limitations Participation in T1DGC was declined by some countries due to study requirements for the processing of samples at network laboratories and/or final deposition of samples in NIDDK Central Repositories. Re-contact of participants was not included in informed consent templates, preventing collection of additional samples for functional studies. Conclusions T1DGC implemented a distributed, regional network structure to reach ASP recruitment targets. The infrastructure proved robust and flexible enough to accommodate additional recruitment. T1DGC has established significant resources that provide a basis for future discovery in the study of type 1 diabetes genetics.

Original languageEnglish (US)
Pages (from-to)S5-S32
JournalClinical Trials
Issue number1_suppl
StatePublished - Aug 1 2010

ASJC Scopus subject areas

  • Pharmacology


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