Type 2 Diabetes Genetic Exploration by Next Generation Sequencing in Multi-Ethnic Samples (T2D-GENES) Follow-up Study: Framingham Heart Study

This substudy phs001610 Framingham T2D-GENES contains next-generation sequencing in multi-ethnic samples. Summary level phenotypes for the Framingham Cohort study participants can be viewed at the top-level study page [phs000007](./study.cgi?study_id=phs000007) Framingham Cohort. Individual level phenotype data and molecular data for all Framingham top-level study and substudies are available by requesting Authorized Access to the Framingham Cohort study [phs000007](./study.cgi?study_id=phs000007). 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: - Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) - Genetics of Type 2 Diabetes (GoT2D) - Exome Sequencing Project (ESP) - Slim Initiative in Genomic Medicine for the Americas (SIGMA) - Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP) - Progress in Diabetes Genetics in Youth (ProDIGY) This data generated from the Framingham Heart Study (FHS) cohort was part of the T2D-GENES (Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples) consortium, which is a NIDDK-funded international research consortium that seeks to identify genetic variants for type 2 diabetes (T2D) through multiethnic sequencing studies. The T2D-GENES Project is a multi-ethnic sequencing study designed to assess whether less common variants play a role in T2D risk and to assess similarities and differences in the distribution of T2D risk variants across ancestry groups. 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](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** **Consortia** **Countries of Origin** **# Controls** African American T2D-GENES Project 1 Jackson Heart Study US 500 526 T2D-GENES Project 1 US 526 African American T2D-GENES Project 1 Wake Forest School of Medicine Study US 518 530 T2D-GENES Project 1 US 530 African American ESP Exome Sequencing Project (ESP) US 467 1374 ESP US 1374 African American T2D-GENES Follow up study BioMe Biobank Program (BioMe) US 1297 1256 T2D-GENES Follow up study US 1256 East Asian T2D-GENES Project 1 Korea Association Research Project Korea 526 561 T2D-GENES Project 1 Korea 561 East Asian T2D-GENES Project 1& Follow up Study Singapore Diabetes Cohort Study; Singapore Prospective Study Program Singapore (Chinese) 1486 1568 T2D-GENES Project 1& Follow up Study Singapore (Chinese) 1568 East Asian T2D-GENES Follow up study Korea SNUH South Korea 450 475 T2D-GENES Follow up study South Korea 475 East Asian T2D-GENES Follow up study Research Studies in Hong Kong (Hong Kong) Hong Kong 493 485 T2D-GENES Follow up study Hong Kong 485 European T2D-GENES Project 1 Ashkenazi US, Israel 506 355 T2D-GENES Project 1 US, Israel 355 European T2D-GENES Project 1 Metabolic Syndrome in Men Study (METSIM) Finland 484 498 T2D-GENES Project 1 Finland 498 European GoT2D Finland-United States Investigation of NIDDM Genetics (FUSION) Study Finland 472 476 GoT2D Finland 476 European GoT2D Kooperative Gesundheitsforschung in der Region Augsburg (KORA) Germany 97 90 GoT2D Germany 90 European GoT2D UK Type 2 Diabetes Genetics Consortium (UKT2D) UK 322 320 GoT2D UK 320 European GoT2D Malmo-Botnia Study Finland, Sweden 478 443 GoT2D Finland, Sweden 443 European LuCamp Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp) Denmark 997 997 LuCamp Denmark 997 European ESP Exome Sequencing Project (ESP) US 390 2843 ESP US 2843 European T2D-GENES Follow up study Genetics of Diabetes and Audit Research Tayside Study (GoDARTS) Scotland, UK 960 966 T2D-GENES Follow up study Scotland, UK 966 European T2D-GENES Follow up study Framingham Heart Study (FHS) US 396 596 T2D-GENES Follow up study US 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 T2D-GENES Project 1 US 218 Hispanic T2D-GENES Project 1 & SIGMAv2 Starr County, Texas US 1762 1738 T2D-GENES Project 1 & SIGMAv2 US 1738 Hispanic SIGMAv1 Mexico City Diabetes Study Mexico 281 549 SIGMAv1 Mexico 549 Hispanic SIGMAv1 & v2 Multiethnic Cohort (MEC) US 1476 1443 SIGMAv1 & v2 US 1443 Hispanic SIGMAv1 & v2 UNAM/INCMNSZ Diabetes Study (UIDS) Mexico 1998 1977 SIGMAv1 & v2 Mexico 1977 Hispanic SIGMAv1 & v2 Diabetes in Mexico Study (DMS) Mexico 1522 1546 SIGMAv1 & v2 Mexico 1546 Multi ethnic ProDIGY Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) US 3097 0 ProDIGY US 0 Multi ethnic ProDIGY SEARCH for Diabetes in Youth (SEARCH) US 553 0 ProDI