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ID

45783

Description

Principal Investigator: David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001093 T2D-GENES (Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Multi-Ethnic Samples) is a NIDDK-funded international research consortium which seeks to identify genetic variants for type 2 diabetes (T2D) through multiethnic sequencing studies. T2D-GENES 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 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 (KORA) study does not have a sub study, as it is not consented to be deposited in dbGAP. *Table 1.* T2D-GENES Whole Exome Sequencing Studies table border="1" tr th*Ancestry*/th th*Study*/th th*Countries of Origin*/th th*# Cases*/th th*# Controls*/th /tr tr tdAfrican American/td tdJackson Heart Study/td tdUS/td td502/td td527/td /tr tr tdAfrican American/td tdWake Forest School of Medicine Study/td tdUS/td td518/td td532/td /tr tr tdEast Asian/td tdKorea Association Research Project/td tdKorea/td td526/td td561/td /tr tr tdEast Asian/td tdSingapore Diabetes Cohort Study; Singapore Prospective Study Program/td tdSingapore (Chinese)/td td486/td td592/td /tr tr tdEuropean/td tdAshkenazi/td tdUS, Israel/td td506/td td352/td /tr tr tdEuropean/td tdMetabolic Syndrome in Men Study (METSIM)/td tdFinland/td td484/td td498/td /tr tr tdEuropean/td tdFinland-United States Investigation of NIDDM Genetics (FUSION) Study/td tdFinland/td td472/td td476/td /tr tr tdEuropean/td tdKooperative Gesundheitsforschung in der Region Augsburg (KORA)/td tdGermany/td td97/td td90/td /tr tr tdEuropean/td tdUK Type 2 Diabetes Genetics Consortium (UKT2D)/td tdUK/td td322/td td320/td /tr tr tdEuropean/td tdMalmö-Botnia Study/td tdFinland, Sweden/td td478/td td443/td /tr tr tdHispanic/td tdSan 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 tdUS/td td272/td td219/td /tr tr tdHispanic/td tdStarr County, Texas/td tdUS/td td749/td td704/td /tr tr tdSouth Asian/td tdLondon Life Sciences Population Study (LOLIPOP)/td tdUK (Indian Asian)/td td530/td td538/td /tr tdSouth Asian/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td563/td td585/td /table The London Life Sciences Population Study (LOLIPOP) contributed 530 cases and 538 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001093

Keywords

  1. 6/21/23 6/21/23 - Chiara Middel
Copyright Holder

David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA

Uploaded on

June 21, 2023

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License

Creative Commons BY 4.0

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    dbGaP phs001093 T2D-GENES Multi-Ethnic Exome Sequencing Study: UK South Asian

    Sample Attribute Information

    pht005613
    Description

    pht005613

    Alias
    UMLS CUI [1,1]
    C3846158
    Sample ID
    Description

    SAMPLE_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Body site from where sample was taken
    Description

    BODY_SITE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449705
    Analyte type used
    Description

    ANALYTE_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4744818
    Tissue/cell type of sample
    Description

    HISTOLOGICAL_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2713035
    UMLS CUI [1,2]
    C2347026
    UMLS CUI [2,1]
    C0449475
    UMLS CUI [2,2]
    C2347026
    Name of sequencing center
    Description

    SEQUENCING_CENTER

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1301943
    UMLS CUI [1,2]
    C0565990
    UMLS CUI [1,3]
    C1561491

    Similar models

    Sample Attribute Information

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht005613
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    BODY_SITE
    Item
    Body site from where sample was taken
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte type used
    string
    C4744818 (UMLS CUI [1,1])
    HISTOLOGICAL_TYPE
    Item
    Tissue/cell type of sample
    string
    C2713035 (UMLS CUI [1,1])
    C2347026 (UMLS CUI [1,2])
    C0449475 (UMLS CUI [2,1])
    C2347026 (UMLS CUI [2,2])
    SEQUENCING_CENTER
    Item
    Name of sequencing center
    string
    C1301943 (UMLS CUI [1,1])
    C0565990 (UMLS CUI [1,2])
    C1561491 (UMLS CUI [1,3])

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