0 Evaluaciones

ID

45781

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=phs001096 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 Korea Association Research Project (KARE) studies contributed 526 cases and 561 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001096

Palabras clave

  1. 20/6/23 20/6/23 - 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

20 de junio de 2023

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs001096 T2D-GENES Multi-Ethnic Exome Sequencing Study: KARE

    Eligibility Criteria

    Inclusion and exclusion criteria
    Descripción

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    Cases were ascertained according to the following criteria:
    Descripción

    Elig.phs001096.v1.p1.1

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C1706256
    UMLS CUI [1,2]
    C1512693
    UMLS CUI [1,3]
    C0243161
    Past history of T2D.
    Descripción

    Elig.phs001096.v1.p1.2

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0262926
    UMLS CUI [1,2]
    C0011860
    Use of T2D medication.
    Descripción

    Elig.phs001096.v1.p1.3

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C1524063
    UMLS CUI [1,2]
    C0011860
    UMLS CUI [1,3]
    C0013227
    Fasting plasma glucose >/=7 mmol/l or plasma glucose >/=11.1 mmol/l 2 hours after ingestion of 75gm oral glucose load.
    Descripción

    Elig.phs001096.v1.p1.4

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0583513
    UMLS CUI [2,1]
    C2317810
    UMLS CUI [2,2]
    C0029161
    Age of disease onset >/=40 years.
    Descripción

    Elig.phs001096.v1.p1.5

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0206132
    Participants with early onset and family history prioritized. Controls were determined according to the following criteria:
    Descripción

    Elig.phs001096.v1.p1.6

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C1279919
    UMLS CUI [1,2]
    C0574845
    UMLS CUI [1,3]
    C0241889
    UMLS CUI [1,4]
    C0549179
    UMLS CUI [2,1]
    C0009932
    UMLS CUI [2,2]
    C1512693
    UMLS CUI [2,3]
    C0243161
    No past history of diabetes.
    Descripción

    Elig.phs001096.v1.p1.7

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C1298908
    UMLS CUI [1,2]
    C0262926
    UMLS CUI [1,3]
    C0011849
    No anti-diabetic medication.
    Descripción

    Elig.phs001096.v1.p1.8

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C1298908
    UMLS CUI [1,2]
    C0935929
    UMLS CUI [1,3]
    C0013227
    Fasting plasma glucose <5.6 mmol/l and plasma glucose 2 hours after ingestion of 75g oral glucose load <7.8 mmol/l at both baseline and follow up timepoints.
    Descripción

    Elig.phs001096.v1.p1.9

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0583513
    UMLS CUI [2,1]
    C2238058
    UMLS CUI [2,2]
    C0029161
    UMLS CUI [2,3]
    C1442488
    UMLS CUI [3,1]
    C2238058
    UMLS CUI [3,2]
    C0029161
    UMLS CUI [3,3]
    C1522577
    UMLS CUI [3,4]
    C2348792
    Older subjects with normal glucose prioritized.
    Descripción

    Elig.phs001096.v1.p1.10

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0549179
    UMLS CUI [1,2]
    C0001779
    UMLS CUI [1,3]
    C0205307
    UMLS CUI [1,4]
    C0202042
    Samples with age of diagnosis <40 excluded.
    Descripción

    Elig.phs001096.v1.p1.11

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C0680251
    UMLS CUI [1,3]
    C1828181

    Similar models

    Eligibility Criteria

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs001096.v1.p1.1
    Item
    Cases were ascertained according to the following criteria:
    boolean
    C1706256 (UMLS CUI [1,1])
    C1512693 (UMLS CUI [1,2])
    C0243161 (UMLS CUI [1,3])
    Elig.phs001096.v1.p1.2
    Item
    Past history of T2D.
    boolean
    C0262926 (UMLS CUI [1,1])
    C0011860 (UMLS CUI [1,2])
    Elig.phs001096.v1.p1.3
    Item
    Use of T2D medication.
    boolean
    C1524063 (UMLS CUI [1,1])
    C0011860 (UMLS CUI [1,2])
    C0013227 (UMLS CUI [1,3])
    Elig.phs001096.v1.p1.4
    Item
    Fasting plasma glucose >/=7 mmol/l or plasma glucose >/=11.1 mmol/l 2 hours after ingestion of 75gm oral glucose load.
    boolean
    C0583513 (UMLS CUI [1,1])
    C2317810 (UMLS CUI [2,1])
    C0029161 (UMLS CUI [2,2])
    Elig.phs001096.v1.p1.5
    Item
    Age of disease onset >/=40 years.
    boolean
    C0206132 (UMLS CUI [1,1])
    Elig.phs001096.v1.p1.6
    Item
    Participants with early onset and family history prioritized. Controls were determined according to the following criteria:
    boolean
    C1279919 (UMLS CUI [1,1])
    C0574845 (UMLS CUI [1,2])
    C0241889 (UMLS CUI [1,3])
    C0549179 (UMLS CUI [1,4])
    C0009932 (UMLS CUI [2,1])
    C1512693 (UMLS CUI [2,2])
    C0243161 (UMLS CUI [2,3])
    Elig.phs001096.v1.p1.7
    Item
    No past history of diabetes.
    boolean
    C1298908 (UMLS CUI [1,1])
    C0262926 (UMLS CUI [1,2])
    C0011849 (UMLS CUI [1,3])
    Elig.phs001096.v1.p1.8
    Item
    No anti-diabetic medication.
    boolean
    C1298908 (UMLS CUI [1,1])
    C0935929 (UMLS CUI [1,2])
    C0013227 (UMLS CUI [1,3])
    Elig.phs001096.v1.p1.9
    Item
    Fasting plasma glucose <5.6 mmol/l and plasma glucose 2 hours after ingestion of 75g oral glucose load <7.8 mmol/l at both baseline and follow up timepoints.
    boolean
    C0583513 (UMLS CUI [1,1])
    C2238058 (UMLS CUI [2,1])
    C0029161 (UMLS CUI [2,2])
    C1442488 (UMLS CUI [2,3])
    C2238058 (UMLS CUI [3,1])
    C0029161 (UMLS CUI [3,2])
    C1522577 (UMLS CUI [3,3])
    C2348792 (UMLS CUI [3,4])
    Elig.phs001096.v1.p1.10
    Item
    Older subjects with normal glucose prioritized.
    boolean
    C0549179 (UMLS CUI [1,1])
    C0001779 (UMLS CUI [1,2])
    C0205307 (UMLS CUI [1,3])
    C0202042 (UMLS CUI [1,4])
    Elig.phs001096.v1.p1.11
    Item
    Samples with age of diagnosis <40 excluded.
    boolean
    C2347026 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    C1828181 (UMLS CUI [1,3])

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