GoDARTS T2D-GENES Exome Sequencing Study is a subset of the ~52,000 Type 2 diabetes exome sequencing project.
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PROVIDER: EGAS00001002937 | EGA |
REPOSITORIES: EGA
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Project description: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: <ul> <li>Type 2 Diabetes Genetic Exploration by Next-generation sequencing in Multi-Ethnic Samples (T2D-GENES)</li> <li>Genetics of Type 2 Diabetes (GoT2D)</li> <li>Exome Sequencing Project (ESP)</li> <li>Slim Initiative in Genomic Medicine for the Americas (SIGMA)</li> <li>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP)</li> <li>Progress in Diabetes Genetics in Youth (ProDIGY)</li> </ul> <p>This data generated from the Hong Kong 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. </p> <p>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. </p> <p><b>Table 1.</b> 52,000 sample T2D Case/Control Whole Exome Sequencing Studies</p> <table border="1"> <tr> <th><b>Ancestry</b></th> <th>Consortia</th> <th><b>Study</b></th> <th><b>Countries of Origin</b></th> <th><b># Cases</b></th> <th><b># Controls</b></th> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Jackson Heart Study</td> <td>US</td> <td>500</td> <td>526</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Wake Forest School of Medicine Study</td> <td>US</td> <td>518</td> <td>530</td> </tr> <tr> <td>African American</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>467</td> <td>1374</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Follow-Up Study</td> <td>BioMe Biobank Program (BioMe)</td> <td>US</td> <td>1297</td> <td>1256</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1</td> <td>Korea Association Research Project</td> <td>Korea</td> <td>526</td> <td>561</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1 and Follow-Up Study</td> <td>Singapore Diabetes Cohort Study; Singapore Prospective Study Program</td> <td>Singapore (Chinese)</td> <td>1486</td> <td>1568</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Korea SNUH</td> <td>South Korea</td> <td>450</td> <td>475</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Research Studies in Hong Kong (Hong Kong)</td> <td>Hong Kong</td> <td>493</td> <td>485</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Ashkenazi</td> <td>US, Israel</td> <td>506</td> <td>352</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Metabolic Syndrome in Men Study (METSIM)</td> <td>Finland</td> <td>484</td> <td>498</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Finland-United States Investigation of NIDDM Genetics (FUSION) Study</td> <td>Finland</td> <td>472</td> <td>476</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Kooperative Gesundheitsforschung in der Region Augsburg (KORA)</td> <td>Germany</td> <td>97</td> <td>90</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>UK Type 2 Diabetes Genetics Consortium (UKT2D)</td> <td>UK</td> <td>322</td> <td>320</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Malmö-Botnia Study</td> <td>Finland, Sweden</td> <td>478</td> <td>443</td> </tr> <tr> <td>European</td> <td>LuCamp</td> <td>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)</td> <td>Denmark</td> <td>997</td> <td>997</td> </tr> <tr> <td>European</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>390</td> <td>2843</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow-Up Study</td> <td>Genetics of Diabetes and Audit Research Tayside Study (GoDARTS)</td> <td>Scotland, UK</td> <td>960</td> <td>966</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow-Up Study</td> <td>Framingham Heart Study (FHS)</td> <td>US</td> <td>396</td> <td>596</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1</td> <td>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</td> <td>US</td> <td>272</td> <td>218</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1 and SIGMA v2</td> <td>Starr County, Texas</td> <td>US</td> <td>1762</td> <td>1738</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1</td> <td>Mexico City Diabetes Study</td> <td>Mexico</td> <td>281</td> <td>549</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>Multiethnic Cohort (MEC)</td> <td>US</td> <td>1476</td> <td>1443</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>UNAM/INCMNSZ Diabetes Study (UIDS)</td> <td>Mexico</td> <td>1998</td> <td>1977</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>Diabetes in Mexico Study (DMS)</td> <td>Mexico</td> <td>1522</td> <td>1546</td> </tr> <tr> <td>Multiethnic</td> <td>ProDIGY</td> <td>Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)</td> <td>US</td> <td>3097</td> <td>0</td> </tr> <tr> <td>Multiethnic</td> <td>ProDIGY</td> <td>SEARCH for Diabetes in Youth (SEARCH)</td> <td>US</td> <td>553</td> <td>0</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1</td> <td>London Life Sciences Population Study (LOLIPOP)</td> <td>UK (Indian Asian)</td> <td>531</td> <td>538</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1 and Follow-Up Study</td> <td>Singapore Indian Eye Study</td> <td>Singapore (Indian Asian)</td> <td>1640</td> <td>1478</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Pakistan Risk of Myocardial Infarction Study (PROMIS)</td> <td>Pakistan</td> <td>914</td> <td>932</td> </tr> </table> <p>The research studies in Hong Kong contributed 493 cases and 485 controls to T2D-GENES Follow-Up study.</p>
| phs001504 | dbGaP
Project description: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: <ul> <li>Type 2 Diabetes Genetic Exploration by Next-generation sequencing in Multi-Ethnic Samples (T2D-GENES)</li> <li>Genetics of Type 2 Diabetes (GoT2D)</li> <li>Exome Sequencing Project (ESP)</li> <li>Slim Initiative in Genomic Medicine for the Americas (SIGMA)</li> <li>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP)</li> <li>Progress in Diabetes Genetics in Youth (ProDIGY)</li> </ul> <p>This data generated from the Pakistan Genomic Resource (PGR) cohort was part of the T2-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. </p> <p>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. </p> <p><b>Table 1.</b> 52,000 sample T2D Case/Control Whole Exome Sequencing Studies</p> <table border="1"> <tr> <th><b>Ancestry</b></th> <th>Consortia</th> <th><b>Study</b></th> <th><b>Countries of Origin</b></th> <th><b># Cases</b></th> <th><b># Controls</b></th> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Jackson Heart Study</td> <td>US</td> <td>502</td> <td>527</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Wake Forest School of Medicine Study</td> <td>US</td> <td>518</td> <td>532</td> </tr> <tr> <td>African American</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>467</td> <td>1374</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Follow-Up Study</td> <td>BioMe Biobank Program (BioMe)</td> <td>US</td> <td>1297</td> <td>1256</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1</td> <td>Korea Association Research Project</td> <td>Korea</td> <td>526</td> <td>561</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1 and Follow-Up Study</td> <td>Singapore Diabetes Cohort Study; Singapore Prospective Study Program</td> <td>Singapore (Chinese)</td> <td>1486</td> <td>1568</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Korea SNUH</td> <td>South Korea</td> <td>450</td> <td>475</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Research Studies in Hong Kong (Hong Kong)</td> <td>Hong Kong</td> <td>493</td> <td>485</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Ashkenazi</td> <td>US, Israel</td> <td>506</td> <td>355</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Metabolic Syndrome in Men Study (METSIM)</td> <td>Finland</td> <td>484</td> <td>498</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Finland-United States Investigation of NIDDM Genetics (FUSION) Study</td> <td>Finland</td> <td>472</td> <td>476</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Kooperative Gesundheitsforschung in der Region Augsburg (KORA)</td> <td>Germany</td> <td>97</td> <td>90</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>UK Type 2 Diabetes Genetics Consortium (UKT2D)</td> <td>UK</td> <td>322</td> <td>320</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Malmö-Botnia Study</td> <td>Finland, Sweden</td> <td>478</td> <td>443</td> </tr> <tr> <td>European</td> <td>LuCamp</td> <td>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)</td> <td>Denmark</td> <td>997</td> <td>997</td> </tr> <tr> <td>European</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>390</td> <td>2843</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow-Up Study</td> <td>Genetics of Diabetes and Audit Research Tayside Study (GoDARTS)</td> <td>Scotland, UK</td> <td>960</td> <td>966</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow-Up Study</td> <td>Framingham Heart Study (FHS)</td> <td>US</td> <td>396</td> <td>596</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1</td> <td>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</td> <td>US</td> <td>272</td> <td>218</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1 and SIGMA v2</td> <td>Starr County, Texas</td> <td>US</td> <td>1762</td> <td>1738</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1</td> <td>Mexico City Diabetes Study</td> <td>Mexico</td> <td>281</td> <td>549</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>Multiethnic Cohort (MEC)</td> <td>US</td> <td>1476</td> <td>1443</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>UNAM/INCMNSZ Diabetes Study (UIDS)</td> <td>Mexico</td> <td>1998</td> <td>1977</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>Diabetes in Mexico Study (DMS)</td> <td>Mexico</td> <td>1522</td> <td>1546</td> </tr> <tr> <td>Multiethnic</td> <td>ProDIGY</td> <td>Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)</td> <td>US</td> <td>3097</td> <td>0</td> </tr> <tr> <td>Multiethnic</td> <td>ProDIGY</td> <td>SEARCH for Diabetes in Youth (SEARCH)</td> <td>US</td> <td>553</td> <td>0</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1</td> <td>London Life Sciences Population Study (LOLIPOP)</td> <td>UK (Indian Asian)</td> <td>531</td> <td>538</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1 and Follow-Up Study</td> <td>Singapore Indian Eye Study</td> <td>Singapore (Indian Asian)</td> <td>1640</td> <td>1478</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Pakistan Genomic Resource (PGR)</td> <td>Pakistan</td> <td>903</td> <td>930</td> </tr> </table> <p>The PGR study contributed 903 cases and 930 controls to T2D-GENES Follow-Up Study. </p>
| phs001552 | dbGaP
Project description: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: <ul> <li>Type 2 Diabetes Genetic Exploration by Next-generation sequencing in Multi-Ethnic Samples (T2D-GENES)</li> <li>Genetics of Type 2 Diabetes (GoT2D)</li> <li>Exome Sequencing Project (ESP)</li> <li>Slim Initiative in Genomic Medicine for the Americas (SIGMA)</li> <li>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP)</li> <li>Progress in Diabetes Genetics in Youth (ProDIGY)</li> </ul> <p>This data generated from the BioMe Biobank 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. </p> <p>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. </p> <p><b>Table 1.</b> 52,000 sample T2D Case/Control Whole Exome Sequencing Studies</p> <table border="1"> <tr> <th><b>Ancestry</b></th> <th>Consortia</th> <th><b>Study</b></th> <th><b>Countries of Origin</b></th> <th><b># Cases</b></th> <th><b># Controls</b></th> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Jackson Heart Study</td> <td>US</td> <td>502</td> <td>527</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Wake Forest School of Medicine Study</td> <td>US</td> <td>518</td> <td>532</td> </tr> <tr> <td>African American</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>467</td> <td>1374</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Follow-Up Study</td> <td>BioMe Biobank Program (BioMe)</td> <td>US</td> <td>1294</td> <td>1254</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1</td> <td>Korea Association Research Project</td> <td>Korea</td> <td>526</td> <td>561</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1 and Follow-Up Study</td> <td>Singapore Diabetes Cohort Study; Singapore Prospective Study Program</td> <td>Singapore (Chinese)</td> <td>1486</td> <td>1568</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Korea SNUH</td> <td>South Korea</td> <td>450</td> <td>475</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Research Studies in Hong Kong (Hong Kong)</td> <td>Hong Kong</td> <td>493</td> <td>485</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Ashkenazi</td> <td>US, Israel</td> <td>506</td> <td>355</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Metabolic Syndrome in Men Study (METSIM)</td> <td>Finland</td> <td>484</td> <td>498</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Finland-United States Investigation of NIDDM Genetics (FUSION) Study</td> <td>Finland</td> <td>472</td> <td>476</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Kooperative Gesundheitsforschung in der Region Augsburg (KORA)</td> <td>Germany</td> <td>97</td> <td>90</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>UK Type 2 Diabetes Genetics Consortium (UKT2D)</td> <td>UK</td> <td>322</td> <td>320</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Malmö-Botnia Study</td> <td>Finland, Sweden</td> <td>478</td> <td>443</td> </tr> <tr> <td>European</td> <td>LuCamp</td> <td>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)</td> <td>Denmark</td> <td>997</td> <td>997</td> </tr> <tr> <td>European</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>390</td> <td>2843</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow-Up Study</td> <td>Genetics of Diabetes and Audit Research Tayside Study (GoDARTS)</td> <td>Scotland, UK</td> <td>960</td> <td>966</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow-Up Study</td> <td>Framingham Heart Study (FHS)</td> <td>US</td> <td>396</td> <td>596</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1</td> <td>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</td> <td>US</td> <td>272</td> <td>218</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1 and SIGMA v2</td> <td>Starr County, Texas</td> <td>US</td> <td>1762</td> <td>1738</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1</td> <td>Mexico City Diabetes Study</td> <td>Mexico</td> <td>281</td> <td>549</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>Multiethnic Cohort (MEC)</td> <td>US</td> <td>1476</td> <td>1443</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>UNAM/INCMNSZ Diabetes Study (UIDS)</td> <td>Mexico</td> <td>1998</td> <td>1977</td> </tr> <tr> <td>Hispanic</td> <td>SIGMA v1 and SIGMA v2</td> <td>Diabetes in Mexico Study (DMS)</td> <td>Mexico</td> <td>1522</td> <td>1546</td> </tr> <tr> <td>Multiethnic</td> <td>ProDIGY</td> <td>Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)</td> <td>US</td> <td>3097</td> <td>0</td> </tr> <tr> <td>Multiethnic</td> <td>ProDIGY</td> <td>SEARCH for Diabetes in Youth (SEARCH)</td> <td>US</td> <td>553</td> <td>0</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1</td> <td>London Life Sciences Population Study (LOLIPOP)</td> <td>UK (Indian Asian)</td> <td>531</td> <td>538</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1 and Follow-Up Study</td> <td>Singapore Indian Eye Study</td> <td>Singapore (Indian Asian)</td> <td>1640</td> <td>1478</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Follow-Up Study</td> <td>Pakistan Genomic Resource (PGR)</td> <td>Pakistan</td> <td>914</td> <td>932</td> </tr> </table> <p>The BioMe Biobank study contributed 1294 cases and 1254 controls to T2D-GENES Follow-Up Study. </p>
| phs001490 | dbGaP
Project description:<p>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: <ul> <li>Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES)</li> <li>Genetics of Type 2 Diabetes (GoT2D)</li> <li>Exome Sequencing Project (ESP)</li> <li>Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D)</li> <li>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP)</li> <li>Progress in Diabetes Genetics in Youth (ProDIGY)</li> </ul> </p> <p>This data generated from the SIGMA Diabetes in Mexico Study (DMS) was part of the Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D), which is an international research consortium funded by the Carlos Slim Foundation that seeks to identify the genetic risk factors for type 2 diabetes (T2D) in Mexico and Latin America and translate those findings into improved treatment and prevention of diabetes. The SIGMA T2D project has sequenced and genotyped more than 13,000 samples from Mexican and Mexican Americans.</p> <p>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: <a href="https://esp.gs.washington.edu/drupal/dbGaP_Releases">https://esp.gs.washington.edu/drupal/dbGaP_Releases</a>. </p> <p><table style="width:100%" border="1"> <caption>Table 1. 52,000 sample T2D Case/Control Whole Exome Sequencing Studies</caption> <tr> <th>Ancestry</th> <th>Consortia</th> <th>Study</th> <th>Countries of Origin</th> <th># Cases</th> <th># Controls</th> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Jackson Heart Study</td> <td>US</td> <td>500</td> <td>526</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Project 1</td> <td>Wake Forest School of Medicine Study</td> <td>US</td> <td>518</td> <td>530</td> </tr> <tr> <td>African American</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>467</td> <td>1374</td> </tr> <tr> <td>African American</td> <td>T2D-GENES Follow up study</td> <td>BioMe Biobank Program (BioMe)</td> <td>US</td> <td>1297</td> <td>1256</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1</td> <td>Korea Association Research Project</td> <td>Korea</td> <td>526</td> <td>561</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Project 1& Follow up Study</td> <td>Singapore Diabetes Cohort Study; Singapore Prospective Study Program</td> <td>Singapore (Chinese)</td> <td>1486</td> <td>1568</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow up study</td> <td>Korea SNUH</td> <td>South Korea</td> <td>450</td> <td>475</td> </tr> <tr> <td>East Asian</td> <td>T2D-GENES Follow up study</td> <td>Research Studies in Hong Kong (Hong Kong)</td> <td>Hong Kong</td> <td>493</td> <td>485</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Ashkenazi</td> <td>US, Israel</td> <td>506</td> <td>355</td> </tr> <tr> <td>European</td> <td>T2D-GENES Project 1</td> <td>Metabolic Syndrome in Men Study (METSIM)</td> <td>Finland</td> <td>484</td> <td>498</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Finland-United States Investigation of NIDDM Genetics (FUSION) Study</td> <td>Finland</td> <td>472</td> <td>476</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Kooperative Gesundheitsforschung in der Region Augsburg (KORA)</td> <td>Germany</td> <td>97</td> <td>90</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>UK Type 2 Diabetes Genetics Consortium (UKT2D)</td> <td>UK</td> <td>322</td> <td>320</td> </tr> <tr> <td>European</td> <td>GoT2D</td> <td>Malmo-Botnia Study</td> <td>Finland, Sweden</td> <td>478</td> <td>443</td> </tr> <tr> <td>European</td> <td>LuCamp</td> <td>Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)</td> <td>Denmark</td> <td>997</td> <td>997</td> </tr> <tr> <td>European</td> <td>ESP</td> <td>Exome Sequencing Project (ESP)</td> <td>US</td> <td>390</td> <td>2843</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow up study</td> <td>Genetics of Diabetes and Audit Research Tayside Study (GoDARTS)</td> <td>Scotland, UK</td> <td>960</td> <td>966</td> </tr> <tr> <td>European</td> <td>T2D-GENES Follow up study</td> <td>Framingham Heart Study (FHS)</td> <td>US</td> <td>396</td> <td>596</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1</td> <td>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</td> <td>US</td> <td>272</td> <td>218</td> </tr> <tr> <td>Hispanic</td> <td>T2D-GENES Project 1 & SIGMAv2</td> <td>Starr County, Texas</td> <td>US</td> <td>1762</td> <td>1738</td> </tr> <tr> <td>Hispanic</td> <td>SIGMAv1</td> <td>Mexico City Diabetes Study</td> <td>Mexico</td> <td>281</td> <td>549</td> </tr> <tr> <td>Hispanic</td> <td>SIGMAv1 & v2</td> <td>Multiethnic Cohort (MEC)</td> <td>US</td> <td>1476</td> <td>1443</td> </tr> <tr> <td>Hispanic</td> <td>SIGMAv1 & v2</td> <td>UNAM/INCMNSZ Diabetes Study (UIDS)</td> <td>Mexico</td> <td>1998</td> <td>1977</td> </tr> <tr> <td>Hispanic</td> <td>SIGMAv1 & v2</td> <td>Diabetes in Mexico Study (DMS)</td> <td>Mexico</td> <td>1522</td> <td>1546</td> </tr> <tr> <td>Multi ethnic</td> <td>ProDIGY</td> <td>Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)</td> <td>US</td> <td>3097</td> <td>0</td> </tr> <tr> <td>Multi ethnic</td> <td>ProDIGY</td> <td>SEARCH for Diabetes in Youth (SEARCH)</td> <td>US</td> <td>553</td> <td>0</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1</td> <td>London Life Sciences Population Study (LOLIPOP)</td> <td>UK (Indian Asian)</td> <td>531</td> <td>538</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Project 1 & Follow up study</td> <td>Singapore Indian Eye Study</td> <td>Singapore (Indian Asian)</td> <td>1640</td> <td>1478</td> </tr> <tr> <td>South Asian</td> <td>T2D-GENES Follow up study</td> <td>Pakistan Genomic Resource (PGR)</td> <td>Pakistan</td> <td>914</td> <td>932</td> </tr> </table> </p> <p>The Diabetes in Mexico Study (DMS) study contributed 1,522 cases and 1,546 controls to the 52k T2D exome sequencing study.</p>
| phs001388 | dbGaP
Project description:The Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) is a large collaboration effort between the University of Michigan, Broad Institute, the Wellcome Trust Centre for Human Genetics, University of Chicago, NIDDK, Texas Biomedical Research Institute, University of Texas Health Science Center, University of North Carolina, Blood Systems Research Institute, and University of Mississippi Medical Center. The goal of this study is to identify genetic variants for type 2 diabetes through multiethnic sequencing studies. In this study, we use next generation sequencing to assess the role of common, low frequency, and rare variants on type 2 diabetes risk. We preformed exome sequencing in 6,546 T2D cases and 6,457 control individuals of multiethnic origin, including individuals of African American, East Asian, South Asian, Hispanic, and European descent.
| EGAS00001001460 | EGA
Project description:Pancreatic islet beta cell failure causes type 2 diabetes (T2D). The IMIDIA consortium has used a strategy entailing a stringent comparative transcriptomics analysis of islets isolated enzymatically or by laser microdissection from two large cohorts of non-diabetic (ND) and T2D organ donors (OD) or partially pancreatectomized patients (PPP). This work led to the identification of a signature of genes that were differentially expressed between T2D and ND regardless of the sample type (OD or PPP). This signature includes 19 genes, of which 9 have never been previously reported to be differentially expressed in T2D islets. The PPP cohort also includes samples from individuals with impaired glucose tolerance (IGT) or recent onset diabetes associated with a pancreatic exocrine disorder (T3cD). Notably, none of the 19 signature genes of T2D islets were significantly dysregulated in islets of subjects with IGT or T3cD, suggesting that their changed expression reflects beta cell deterioration rather than a deficit preceding it.
2017-12-09 | GSE76895 | GEO
Project description:Pancreatic islet beta cell failure causes type 2 diabetes (T2D). The IMIDIA consortium has used a strategy entailing a stringent comparative transcriptomics analysis of islets isolated enzymatically or by laser microdissection from two large cohorts of non-diabetic (ND) and T2D organ donors (OD) or partially pancreatectomized patients (PPP). This work led to the identification of a signature of genes that were differentially expressed between T2D and ND regardless of the sample type (OD or PPP). This signature includes 19 genes, of which 9 have never been previously reported to be differentially expressed in T2D islets. The PPP cohort also includes samples from individuals with impaired glucose tolerance (IGT) or recent onset diabetes associated with a pancreatic exocrine disorder (T3cD). Notably, none of the 19 signature genes of T2D islets were significantly dysregulated in islets of subjects with IGT or T3cD, suggesting that their changed expression reflects beta cell deterioration rather than a deficit preceding it.
2017-12-09 | GSE76894 | GEO
Project description:Type 1 and type 2 diabetes (T1D and T2D) share pathophysiological characteristics, yet mechanistic links have remained elusive. T1D results from autoimmune destruction of pancreatic beta cells, while beta cell failure in T2D is delayed and progressive. Here we find a new genetic component of diabetes susceptibility in T1D non-obese diabetic (NOD) mice, identifying immune-independent beta cell fragility. Genetic variation in Xrcc4 and Glis3 alter the response of NOD beta cells to unfolded protein stress, enhancing the apoptotic and senescent fates. The same transcriptional relationships were observed in human islets, demonstrating the role for beta cell fragility in genetic predisposition to diabetes.
2016-02-24 | PXD000859 | Pride
Project description:Close to 50 genetic loci have been associated with type 2 diabetes (T2D), but they explain only 15% of the heritability. In an attempt to identify additional T2D genes, we analyzed global gene expression in human islets from 63 donors.
2012-07-05 | GSE38642 | GEO
Project description:Rusu V, Hoch E, Mercader JM, Tenen DE, Gymrek M, Hartigan CR, von Grotthuss M, Fontanillas P, Spooner A, Guzman G, Carr SA, Schenone M, Ng MCY, Chen BH, MEDIA Consortium, SIGMA T2D Consortium, Orozco L, Altshuler DM, Schreiber SL, Florez JC, Jacobs SBR, Lander ES. 2017 Cell. Type 2 Diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. We recently identified a risk haplotype in SLC16A11 that explains ~20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a reduced set of tightly-linked common variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreased expression of the SLC16A11 gene in human liver and (2) missense changes in the SLC16A11 protein that disrupt a key interaction with the chaperone basigin, thereby reducing plasma membrane localization. Both independent mechanisms reduce SLC16A11 function, and together suggest that SLC16A11 is the causal gene. To gain insight into how disruption of SLC16A11 impacts T2D risk, we investigate this previously uncharacterized transporter and categorize SLC16A11 as a proton-coupled monocarboxylate transporter. Our findings suggest that increasing SLC16A11 function could be therapeutically beneficial for T2D.
2017-05-23 | MSV000081105 | MassIVE