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Progress in Diabetes Genetics in Youth (ProDIGY) Exome Sequencing Study: SEARCH for Diabetes in Youth

The ~52,000 sample Type 2 Diabetes Exome Sequencing project is a collaboration of six consortia with various funding mechanisms that have joined together to investigate genetic variants for type 2 diabetes (T2D) using the largest T2D case/control sample set compiled to date. This includes samples from:

This data generated from the SEARCH for Diabetes in Youth cohort was part of the ProDIGY (Progress in Diabetes Genetics in Youth) consortium, which is a NIDDK-funded research consortium that investigated genetic variants for childhood type 2 diabetes (T2D). This consortium involved sequencing multiethnic samples from childhood T2D cases located across the United States.

The individuals were obtained from over 20 cohorts across the 6 consortia that are listed in Table 1. The strategy was to perform deep exome sequencing of individuals, 24,991 with T2D and 24,953 controls, divided among five ancestry groups: Europeans, East Asians, South Asians, American Hispanics, and African Americans. The T2D-GENES, ProDIGY and SIGMA studies, sequencing was performed at the Broad Institute using the Agilent v2 capture reagent or Illumina Rapid Capture on Illumina HiSeq machines. Please note that while we summarize the full sample list in publications and below, two of the cohorts below are not in dbGAP, due to the samples not being consented for deposition. This includes the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) study and Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp) study. The Exome Sequencing Project (ESP) was deposited in dbGAP as part of their initial study and the phs numbers for that project can be found here: https://esp.gs.washington.edu/drupal/dbGaP_Releases.

Table 1. 52,000 sample T2D Case/Control Whole Exome Sequencing Studies

Ancestry Consortia Study Countries of Origin # Cases # Controls
African American T2D-GENES Project 1 Jackson Heart Study US 500 526
African American T2D-GENES Project 1 Wake Forest School of Medicine Study US 518 530
African American ESP Exome Sequencing Project (ESP) US 467 1374
African American T2D-GENES Follow up study BioMe Biobank Program (BioMe) US 1297 1256
East Asian T2D-GENES Project 1 Korea Association Research Project Korea 526 561
East Asian T2D-GENES Project 1& Follow up Study Singapore Diabetes Cohort Study; Singapore Prospective Study Program Singapore (Chinese) 1486 1568
East Asian T2D-GENES Follow up study Korea SNUH South Korea 450 475
East Asian T2D-GENES Follow up study Research Studies in Hong Kong (Hong Kong) Hong Kong 493 485
European T2D-GENES Project 1 Ashkenazi US, Israel 506 355
European T2D-GENES Project 1 Metabolic Syndrome in Men Study (METSIM) Finland 484 498
European GoT2D Finland-United States Investigation of NIDDM Genetics (FUSION) Study Finland 472 476
European GoT2D Kooperative Gesundheitsforschung in der Region Augsburg (KORA) Germany 97 90
European GoT2D UK Type 2 Diabetes Genetics Consortium (UKT2D) UK 322 320
European GoT2D Malmo-Botnia Study Finland, Sweden 478 443
European LuCamp Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp) Denmark 997 997
European ESP Exome Sequencing Project (ESP) US 390 2843
European T2D-GENES Follow up study Genetics of Diabetes and Audit Research Tayside Study (GoDARTS) Scotland, UK 960 966
European T2D-GENES Follow up study Framingham Heart Study (FHS) US 396 596
Hispanic T2D-GENES Project 1 San Antonio Family Heart Study, San Antonio Family Diabetes/ Gallbladder Study, Veterans Administration Genetic Epidemiology Study, and the Investigation of Nephropathy and Diabetes Study Family Component US 272 218
Hispanic T2D-GENES Project 1 & SIGMAv2 Starr County, Texas US 1762 1738
Hispanic SIGMAv1 Mexico City Diabetes Study Mexico 281 549
Hispanic SIGMAv1 & v2 Multiethnic Cohort (MEC) US 1476 1443
Hispanic SIGMAv1 & v2 UNAM/INCMNSZ Diabetes Study (UIDS) Mexico 1998 1977
Hispanic SIGMAv1 & v2 Diabetes in Mexico Study (DMS) Mexico 1522 1546
Multi ethnic ProDIGY Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) US 3097 0
Multi ethnic ProDIGY SEARCH for Diabetes in Youth (SEARCH) US 553 0
South Asian T2D-GENES Project 1 London Life Sciences Population Study (LOLIPOP) UK (Indian Asian) 551 538
South Asian T2D-GENES Project 1 & Follow up study Singapore Indian Eye Study Singapore (Indian Asian) 1640 1478
South Asian T2D-GENES Follow up study Pakistan Risk of Myocardial Infarction Study (PROMIS) Pakistan 914 932

The SEARCH study contributed 553 cases and 0 controls to 52k T2D exome sequencing study.