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ID

45783

Beskrivning

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.

Länk

dbGaP-study=phs001093

Nyckelord

  1. 2023-06-21 2023-06-21 - Chiara Middel
Rättsinnehavare

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

Uppladdad den

21 juni 2023

DOI

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Creative Commons BY 4.0

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

    Eligibility Criteria

    Inclusion and exclusion criteria
    Beskrivning

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    Cases were ascertained according to the following criteria: Samples were chosen from a population-based cohort study.
    Beskrivning

    Elig.phs001093.v1.p1.1

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C1706256
    UMLS CUI [1,2]
    C1512693
    UMLS CUI [1,3]
    C0243161
    UMLS CUI [2,1]
    C0870078
    UMLS CUI [2,2]
    C0599755
    UMLS CUI [2,3]
    C1709599
    Indian Asians living in West London, UK, with all 4 grandparents born on the Indian subcontinent.
    Beskrivning

    Elig.phs001093.v1.p1.2

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C1524069
    UMLS CUI [1,2]
    C0237096
    UMLS CUI [1,3]
    C0017446
    UMLS CUI [1,4]
    C0444868
    UMLS CUI [1,5]
    C0337471
    UMLS CUI [1,6]
    C0032040
    UMLS CUI [1,7]
    C0454693
    Prevalent T2D defined as previous physician diagnosis of diabetes on treatment, with onset of diabetes after the age of 18 years and without insulin use in the first year after diagnosis; or fasting plasma glucose >/=7.0 mmol/L.
    Beskrivning

    Elig.phs001093.v1.p1.3

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C5204628
    UMLS CUI [1,2]
    C0011860
    UMLS CUI [1,3]
    C1704788
    UMLS CUI [1,4]
    C0205156
    UMLS CUI [1,5]
    C0031831
    UMLS CUI [1,6]
    C0011900
    UMLS CUI [1,7]
    C0011849
    UMLS CUI [1,8]
    C4684449
    UMLS CUI [2,1]
    C0206132
    UMLS CUI [2,2]
    C0011849
    UMLS CUI [2,3]
    C0001779
    UMLS CUI [2,4]
    C1298908
    UMLS CUI [2,5]
    C0240016
    UMLS CUI [2,6]
    C0205435
    UMLS CUI [2,7]
    C0439234
    UMLS CUI [2,8]
    C0687676
    UMLS CUI [2,9]
    C0011900
    UMLS CUI [3,1]
    C0583513
    Controls were determined according to the following criteria: No previous history of diabetes.
    Beskrivning

    Elig.phs001093.v1.p1.4

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C0009932
    UMLS CUI [1,2]
    C1512693
    UMLS CUI [1,3]
    C0243161
    UMLS CUI [1,4]
    C1298908
    UMLS CUI [1,5]
    C0262926
    UMLS CUI [1,6]
    C0011849
    No anti-diabetic medication.
    Beskrivning

    Elig.phs001093.v1.p1.5

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C1298908
    UMLS CUI [1,2]
    C0935929
    Fasting plasma glucose <6.0 mmol/L.
    Beskrivning

    Elig.phs001093.v1.p1.6

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C0583513
    Samples with age of onset <18 excluded.
    Beskrivning

    Elig.phs001093.v1.p1.7

    Datatyp

    boolean

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C0206132
    UMLS CUI [1,3]
    C2828389

    Similar models

    Eligibility Criteria

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datatyp
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs001093.v1.p1.1
    Item
    Cases were ascertained according to the following criteria: Samples were chosen from a population-based cohort study.
    boolean
    C1706256 (UMLS CUI [1,1])
    C1512693 (UMLS CUI [1,2])
    C0243161 (UMLS CUI [1,3])
    C0870078 (UMLS CUI [2,1])
    C0599755 (UMLS CUI [2,2])
    C1709599 (UMLS CUI [2,3])
    Elig.phs001093.v1.p1.2
    Item
    Indian Asians living in West London, UK, with all 4 grandparents born on the Indian subcontinent.
    boolean
    C1524069 (UMLS CUI [1,1])
    C0237096 (UMLS CUI [1,2])
    C0017446 (UMLS CUI [1,3])
    C0444868 (UMLS CUI [1,4])
    C0337471 (UMLS CUI [1,5])
    C0032040 (UMLS CUI [1,6])
    C0454693 (UMLS CUI [1,7])
    Elig.phs001093.v1.p1.3
    Item
    Prevalent T2D defined as previous physician diagnosis of diabetes on treatment, with onset of diabetes after the age of 18 years and without insulin use in the first year after diagnosis; or fasting plasma glucose >/=7.0 mmol/L.
    boolean
    C5204628 (UMLS CUI [1,1])
    C0011860 (UMLS CUI [1,2])
    C1704788 (UMLS CUI [1,3])
    C0205156 (UMLS CUI [1,4])
    C0031831 (UMLS CUI [1,5])
    C0011900 (UMLS CUI [1,6])
    C0011849 (UMLS CUI [1,7])
    C4684449 (UMLS CUI [1,8])
    C0206132 (UMLS CUI [2,1])
    C0011849 (UMLS CUI [2,2])
    C0001779 (UMLS CUI [2,3])
    C1298908 (UMLS CUI [2,4])
    C0240016 (UMLS CUI [2,5])
    C0205435 (UMLS CUI [2,6])
    C0439234 (UMLS CUI [2,7])
    C0687676 (UMLS CUI [2,8])
    C0011900 (UMLS CUI [2,9])
    C0583513 (UMLS CUI [3,1])
    Elig.phs001093.v1.p1.4
    Item
    Controls were determined according to the following criteria: No previous history of diabetes.
    boolean
    C0009932 (UMLS CUI [1,1])
    C1512693 (UMLS CUI [1,2])
    C0243161 (UMLS CUI [1,3])
    C1298908 (UMLS CUI [1,4])
    C0262926 (UMLS CUI [1,5])
    C0011849 (UMLS CUI [1,6])
    Elig.phs001093.v1.p1.5
    Item
    No anti-diabetic medication.
    boolean
    C1298908 (UMLS CUI [1,1])
    C0935929 (UMLS CUI [1,2])
    Elig.phs001093.v1.p1.6
    Item
    Fasting plasma glucose <6.0 mmol/L.
    boolean
    C0583513 (UMLS CUI [1,1])
    Elig.phs001093.v1.p1.7
    Item
    Samples with age of onset <18 excluded.
    boolean
    C2347026 (UMLS CUI [1,1])
    C0206132 (UMLS CUI [1,2])
    C2828389 (UMLS CUI [1,3])

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