Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Multi-Ethnic Samples (T2D-GENES) Project 1: Jackson Heart Study

This sub-study [phs001098](http://./study.cgi?study_id=phs001098) T2D GENES Exome Seq contains genotype derived from sequence data and selected phenotype of subjects available from the [phs001098](http://./study.cgi?study_id=phs001098) study. Summary level phenotypes for the NHLBI JHS Cohort study participants can be viewed at the top-level study page [phs000286](./study.cgi?study_id=phs000286) JHS Cohort. Individual level phenotype data and molecular data for all JHS Cohort top-level study and substudies are available by requesting Authorized Access to the NHLBI JHS Cohort [phs000286](./study.cgi?study_id=phs000286) study.

[T2D-GENES](https://t2d-genes.sph.umich.edu/) (Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples) is an NIDDK-funded international research consortium which seeks to identify genetic variants for type 2 diabetes (T2D) through multiethnic sequencing studies. [T2D-GENES](https://t2d-genes.sph.umich.edu/) Project 1 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 14 cohorts that are listed in Table 1. The strategy was to perform deep exome sequencing of 12,940 individuals, 6,504 with T2D and 6,436 controls, divided among five ancestry groups: Europeans, East Asians, South Asians, American Hispanics, and African Americans. Sequencing was performed at the [Broad Institute](https://www.broadinstitute.org/) using the Agilent v2 capture reagent on Illumina HiSeq machines. Please note that while we summarize the full sample list in publications and below, the [Kooperative Gesundheitsforschung in der Region Augsburg](https://www.uniklinik-freiburg.de/radiologie/forschung/kora-kooperative-gesundheitsstudie.html) (KORA) study does not have a substudy, as it is not consented to be deposited in dbGaP.

Table 1. T2D-GENES Whole Exome Sequencing Studies
|**Ancestry** |**Study** |**Countries of Origin** |**# Cases** |**# Controls**
|African American |Jackson Heart Study |US |502 |527
|African American |[Wake Forest School of Medicine Study](https://school.wakehealth.edu/research) |US |518 |532
|East Asian |Korea Association Research Project |Korea |526 |561
|East Asian |Singapore Diabetes Cohort Study; Singapore Prospective Study Program |Singapore (Chinese) |486 |592
|European |Ashkenazi |US, Israel |506 |352
|European |[Metabolic Syndrome in Men Study](https://pubmed.ncbi.nlm.nih.gov/28119442/) (METSIM) |Finland |484 |498
|European |[Finland-United States Investigation of NIDDM Genetics](https://fusion.sph.umich.edu/) (FUSION) Study |Finland |472 |476
|European |[Kooperative Gesundheitsforschung in der Region Augsburg](https://www.uniklinik-freiburg.de/radiologie/forschung/kora-kooperative-gesundheitsstudie.html) (KORA) |Germany |97 |90
|European |[UK Type 2 Diabetes Genetics Consortium](http://www.diabetes-healthnet.ac.uk/) (UKT2D) |UK |322 |320
|European |[Malmo-Botnia Study](https://www.folkhalsan.fi/en/knowledge/research/genetics/group-tuomi/) |Finland, Sweden |478 |443
|Hispanic |[San Antonio Family Heart Study](https://vorugantilab.web.unc.edu/current-studies/the-san-antonio-family-heart-study/), [San Antonio Family Diabetes/Gallbladder Study](https://pubmed.ncbi.nlm.nih.gov/16123354/), Veterans Administration Genetic Epidemiology Study, and the [Investigation of Nephropathy and Diabetes Study Family Component](https://repository.niddk.nih.gov/studies/find/#:~:text=General%20Description,determinants%20of%20diabetic%20kidney%20disease.) |US |272 |219
|Hispanic |Starr County, Texas |US |749 |704
|South Asian |[London Life Sciences Population Study](https://imperialbrc.nihr.ac.uk/2016/06/30/london-life-sciences-prospective-population-study-lolipop/) (LOLIPOP) |UK (Indian Asian) |530 |538
|South Asian |[Singapore Indian Eye Study](https://www.snec.com.sg/research-innovation/key-programme-singapore-epidemiology-of-eye-diseases) |Singapore (Indian Asian) |563 |585

The [Jackson Heart Study](https://www.jacksonheartstudy.org/) contributed 502 cases and 527 controls to [T2D-GENES](https://t2d-genes.sph.umich.edu/) Project 1.