0 Evaluaciones

ID

45782

Descripción

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=phs001095 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 tr tdSouth Asian/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td563/td td585/td /tr /table The Ashkenazi study contributed 506 cases and 352 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001095

Palabras clave

  1. 21/6/23 21/6/23 - Chiara Middel
Titular de derechos de autor

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

Subido en

21 de junio de 2023

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs001095 T2D-GENES Multi-Ethnic Exome Sequencing Study: Ashkenazi

    Subject - Consent Information

    pht005618
    Descripción

    pht005618

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Descripción

    SUBJECT_ID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Descripción

    CONSENT

    Tipo de datos

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001
    Source repository where subjects originate
    Descripción

    SUBJECT_SOURCE

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,2]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,3]
    C0681850 (Study Subject)
    Subject ID used in the Source Repository
    Descripción

    SOURCE_SUBJECT_ID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3

    Similar models

    Subject - Consent Information

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    pht005618
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group as determined by DAC
    text
    C0021430 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    Disease-Specific (Type 2 Diabetes, IRB, RD) (DS-T2D-IRB-RD) (1)
    SUBJECT_SOURCE
    Item
    Source repository where subjects originate
    string
    C3847505 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C0681850 (UMLS CUI [1,3])
    SOURCE_SUBJECT_ID
    Item
    Subject ID used in the Source Repository
    string
    C2348585 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0449416 (UMLS CUI [1,3])

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