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ID

45782

Descrizione

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.

collegamento

dbGaP-study=phs001095

Keywords

versioni (1)
  1. 21/06/23 21/06/23 - Chiara Middel
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David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA

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21 giugno 2023

DOI

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Creative Commons BY 4.0
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    dbGaP phs001095 T2D-GENES Multi-Ethnic Exome Sequencing Study: Ashkenazi

    Inglese

    Eligibility Criteria

    5 moduli  
    Inclusion and exclusion criteria
    Descrizione

    Inclusion and exclusion criteria

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

    Elig.phs001095.v1.p1.1

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C1706256
    UMLS CUI [1,2]
    C1512693
    UMLS CUI [1,3]
    C0243161
    Ashkenazi Jewish origin, defined as having all four grandparents born in Northern or Eastern Europe; subjects with known or suspected Sephardic Jewish or non-Jewish ancestry were excluded.
    Descrizione

    Elig.phs001095.v1.p1.2

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C2135555
    UMLS CUI [1,2]
    C1704788
    UMLS CUI [1,3]
    C0444868
    UMLS CUI [1,4]
    C0337471
    UMLS CUI [1,5]
    C1300001
    UMLS CUI [1,6]
    C0028413
    UMLS CUI [1,7]
    C0015177
    UMLS CUI [2,1]
    C0680251
    UMLS CUI [2,2]
    C0750491
    UMLS CUI [2,3]
    C0205309
    UMLS CUI [2,4]
    C0574825
    UMLS CUI [2,5]
    C1298908
    UMLS CUI [2,6]
    C0178443
    UMLS CUI [2,7]
    C3841890
    T2D defined according to the World Health Organization criteria (fasting glucose >140 mg/dl on two or more occasions or random glucose >200mg/dl).
    Descrizione

    Elig.phs001095.v1.p1.3

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C0011860
    UMLS CUI [1,2]
    C1704788
    UMLS CUI [1,3]
    C0043237
    UMLS CUI [1,4]
    C0243161
    To avoid late-onset T1D, patients who became insulin-dependent within 2 years of diagnosis were excluded; anti-GAD or anti-islet cell antibody titers were not routinely measured.
    Descrizione

    Elig.phs001095.v1.p1.4

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C0870186
    UMLS CUI [1,2]
    C0376415
    UMLS CUI [1,3]
    C0011854
    UMLS CUI [2,1]
    C0680251
    UMLS CUI [2,2]
    C0030705
    UMLS CUI [2,3]
    C0011860
    UMLS CUI [2,4]
    C1524063
    UMLS CUI [2,5]
    C0021641
    UMLS CUI [2,6]
    C0332285
    UMLS CUI [2,7]
    C0205448
    UMLS CUI [2,8]
    C0439234
    UMLS CUI [2,9]
    C0011900
    UMLS CUI [3,1]
    C1298908
    UMLS CUI [3,2]
    C0205547
    UMLS CUI [3,3]
    C0242485
    UMLS CUI [3,4]
    C1167897
    UMLS CUI [3,5]
    C0063900
    T2D cases were selected from two separate DNA collections:
    Descrizione

    Elig.phs001095.v1.p1.5

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C1706256
    UMLS CUI [1,2]
    C0011860
    UMLS CUI [1,3]
    C0242802
    UMLS CUI [1,4]
    C0205448
    UMLS CUI [1,5]
    C0443299
    UMLS CUI [1,6]
    C0012854
    UMLS CUI [1,7]
    C0010995
    Genome-wide, affected-sibling-pair linkage study (Permutt et al. Diabetes 2001). Families in which both parents were known to have diabetes were excluded. One affected individual selected from each family and, wherever possible, sibling with youngest age of diagnosis selected.
    Descrizione

    Elig.phs001095.v1.p1.6

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C3640076
    UMLS CUI [1,2]
    C0522476
    UMLS CUI [1,3]
    C0037047
    UMLS CUI [1,4]
    C1709450
    UMLS CUI [1,5]
    C0796345
    UMLS CUI [2,1]
    C0680251
    UMLS CUI [2,2]
    C1706086
    UMLS CUI [2,3]
    C0030551
    UMLS CUI [2,4]
    C0522476
    UMLS CUI [2,5]
    C0011849
    Study to determine genetic risk for diabetic complications (Blech et al. PLoS One 2011). Patients ascertained by the Israel Diabetes Research Group between 2002 and 2004 from 15 diabetes clinics throughout Israel. Primary selection criteria: (1) known T1D or T2D for more than 10 years, (2) 4 grandparents being either Ashkenazi or Sephardic-North African Jewish. For this study, only T2D patients with all 4 grandparents of Ashkenazi Jewish origin and age of diagnosis between 35 and 60 were selected. Controls were determined according to the following criteria:
    Descrizione

    Elig.phs001095.v1.p1.7

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C0008976
    UMLS CUI [1,2]
    C1148554
    UMLS CUI [1,3]
    C0314603
    UMLS CUI [1,4]
    C0035647
    UMLS CUI [1,5]
    C0342257
    UMLS CUI [2,1]
    C0242802
    UMLS CUI [2,2]
    C0022271
    UMLS CUI [2,3]
    C0011849
    UMLS CUI [2,4]
    C0242481
    UMLS CUI [2,5]
    C0441833
    UMLS CUI [2,6]
    C0442592
    UMLS CUI [3,1]
    C0205225
    UMLS CUI [3,2]
    C0242801
    UMLS CUI [3,3]
    C0205309
    UMLS CUI [3,4]
    C0011860
    UMLS CUI [3,5]
    C0011854
    UMLS CUI [3,6]
    C0449238
    UMLS CUI [3,7]
    C0444868
    UMLS CUI [3,8]
    C0337471
    UMLS CUI [3,9]
    C0337704
    UMLS CUI [3,10]
    C0574825
    UMLS CUI [4,1]
    C0242802
    UMLS CUI [4,2]
    C0205171
    UMLS CUI [4,3]
    C0030705
    UMLS CUI [4,4]
    C0011860
    UMLS CUI [4,5]
    C0444868
    UMLS CUI [4,6]
    C0337471
    UMLS CUI [4,7]
    C0337704
    UMLS CUI [4,8]
    C1828181
    UMLS CUI [5,1]
    C0009932
    UMLS CUI [5,2]
    C1512693
    UMLS CUI [5,3]
    C0243161
    Fasting blood glucose <7 mmol/l.
    Descrizione

    Elig.phs001095.v1.p1.8

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C0583513
    No personal history of diabetes.
    Descrizione

    Elig.phs001095.v1.p1.9

    Tipo di dati

    boolean

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

    Elig.phs001095.v1.p1.10

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C1298908
    UMLS CUI [1,2]
    C0935929
    UMLS CUI [1,3]
    C0013227
    Patients who became insulin-dependent within 2 years of diagnosis were excluded.
    Descrizione

    Elig.phs001095.v1.p1.11

    Tipo di dati

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251
    UMLS CUI [1,2]
    C0011860
    UMLS CUI [1,3]
    C1524063
    UMLS CUI [1,4]
    C0021641
    UMLS CUI [1,5]
    C0332285
    UMLS CUI [1,6]
    C0205448
    UMLS CUI [1,7]
    C0439234
    UMLS CUI [1,8]
    C0011900
    Ritorna all'inizio della pagina

    Similar models

    Eligibility Criteria

    5 moduli
    Name
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs001095.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.phs001095.v1.p1.2
    Item
    Ashkenazi Jewish origin, defined as having all four grandparents born in Northern or Eastern Europe; subjects with known or suspected Sephardic Jewish or non-Jewish ancestry were excluded.
    boolean
    C2135555 (UMLS CUI [1,1])
    C1704788 (UMLS CUI [1,2])
    C0444868 (UMLS CUI [1,3])
    C0337471 (UMLS CUI [1,4])
    C1300001 (UMLS CUI [1,5])
    C0028413 (UMLS CUI [1,6])
    C0015177 (UMLS CUI [1,7])
    C0680251 (UMLS CUI [2,1])
    C0750491 (UMLS CUI [2,2])
    C0205309 (UMLS CUI [2,3])
    C0574825 (UMLS CUI [2,4])
    C1298908 (UMLS CUI [2,5])
    C0178443 (UMLS CUI [2,6])
    C3841890 (UMLS CUI [2,7])
    Elig.phs001095.v1.p1.3
    Item
    T2D defined according to the World Health Organization criteria (fasting glucose >140 mg/dl on two or more occasions or random glucose >200mg/dl).
    boolean
    C0011860 (UMLS CUI [1,1])
    C1704788 (UMLS CUI [1,2])
    C0043237 (UMLS CUI [1,3])
    C0243161 (UMLS CUI [1,4])
    Elig.phs001095.v1.p1.4
    Item
    To avoid late-onset T1D, patients who became insulin-dependent within 2 years of diagnosis were excluded; anti-GAD or anti-islet cell antibody titers were not routinely measured.
    boolean
    C0870186 (UMLS CUI [1,1])
    C0376415 (UMLS CUI [1,2])
    C0011854 (UMLS CUI [1,3])
    C0680251 (UMLS CUI [2,1])
    C0030705 (UMLS CUI [2,2])
    C0011860 (UMLS CUI [2,3])
    C1524063 (UMLS CUI [2,4])
    C0021641 (UMLS CUI [2,5])
    C0332285 (UMLS CUI [2,6])
    C0205448 (UMLS CUI [2,7])
    C0439234 (UMLS CUI [2,8])
    C0011900 (UMLS CUI [2,9])
    C1298908 (UMLS CUI [3,1])
    C0205547 (UMLS CUI [3,2])
    C0242485 (UMLS CUI [3,3])
    C1167897 (UMLS CUI [3,4])
    C0063900 (UMLS CUI [3,5])
    Elig.phs001095.v1.p1.5
    Item
    T2D cases were selected from two separate DNA collections:
    boolean
    C1706256 (UMLS CUI [1,1])
    C0011860 (UMLS CUI [1,2])
    C0242802 (UMLS CUI [1,3])
    C0205448 (UMLS CUI [1,4])
    C0443299 (UMLS CUI [1,5])
    C0012854 (UMLS CUI [1,6])
    C0010995 (UMLS CUI [1,7])
    Elig.phs001095.v1.p1.6
    Item
    Genome-wide, affected-sibling-pair linkage study (Permutt et al. Diabetes 2001). Families in which both parents were known to have diabetes were excluded. One affected individual selected from each family and, wherever possible, sibling with youngest age of diagnosis selected.
    boolean
    C3640076 (UMLS CUI [1,1])
    C0522476 (UMLS CUI [1,2])
    C0037047 (UMLS CUI [1,3])
    C1709450 (UMLS CUI [1,4])
    C0796345 (UMLS CUI [1,5])
    C0680251 (UMLS CUI [2,1])
    C1706086 (UMLS CUI [2,2])
    C0030551 (UMLS CUI [2,3])
    C0522476 (UMLS CUI [2,4])
    C0011849 (UMLS CUI [2,5])
    Elig.phs001095.v1.p1.7
    Item
    Study to determine genetic risk for diabetic complications (Blech et al. PLoS One 2011). Patients ascertained by the Israel Diabetes Research Group between 2002 and 2004 from 15 diabetes clinics throughout Israel. Primary selection criteria: (1) known T1D or T2D for more than 10 years, (2) 4 grandparents being either Ashkenazi or Sephardic-North African Jewish. For this study, only T2D patients with all 4 grandparents of Ashkenazi Jewish origin and age of diagnosis between 35 and 60 were selected. Controls were determined according to the following criteria:
    boolean
    C0008976 (UMLS CUI [1,1])
    C1148554 (UMLS CUI [1,2])
    C0314603 (UMLS CUI [1,3])
    C0035647 (UMLS CUI [1,4])
    C0342257 (UMLS CUI [1,5])
    C0242802 (UMLS CUI [2,1])
    C0022271 (UMLS CUI [2,2])
    C0011849 (UMLS CUI [2,3])
    C0242481 (UMLS CUI [2,4])
    C0441833 (UMLS CUI [2,5])
    C0442592 (UMLS CUI [2,6])
    C0205225 (UMLS CUI [3,1])
    C0242801 (UMLS CUI [3,2])
    C0205309 (UMLS CUI [3,3])
    C0011860 (UMLS CUI [3,4])
    C0011854 (UMLS CUI [3,5])
    C0449238 (UMLS CUI [3,6])
    C0444868 (UMLS CUI [3,7])
    C0337471 (UMLS CUI [3,8])
    C0337704 (UMLS CUI [3,9])
    C0574825 (UMLS CUI [3,10])
    C0242802 (UMLS CUI [4,1])
    C0205171 (UMLS CUI [4,2])
    C0030705 (UMLS CUI [4,3])
    C0011860 (UMLS CUI [4,4])
    C0444868 (UMLS CUI [4,5])
    C0337471 (UMLS CUI [4,6])
    C0337704 (UMLS CUI [4,7])
    C1828181 (UMLS CUI [4,8])
    C0009932 (UMLS CUI [5,1])
    C1512693 (UMLS CUI [5,2])
    C0243161 (UMLS CUI [5,3])
    Elig.phs001095.v1.p1.8
    Item
    Fasting blood glucose <7 mmol/l.
    boolean
    C0583513 (UMLS CUI [1,1])
    Elig.phs001095.v1.p1.9
    Item
    No personal history of diabetes.
    boolean
    C1298908 (UMLS CUI [1,1])
    C0262926 (UMLS CUI [1,2])
    C0011849 (UMLS CUI [1,3])
    Elig.phs001095.v1.p1.10
    Item
    No anti-diabetic medications.
    boolean
    C1298908 (UMLS CUI [1,1])
    C0935929 (UMLS CUI [1,2])
    C0013227 (UMLS CUI [1,3])
    Elig.phs001095.v1.p1.11
    Item
    Patients who became insulin-dependent within 2 years of diagnosis were excluded.
    boolean
    C0680251 (UMLS CUI [1,1])
    C0011860 (UMLS CUI [1,2])
    C1524063 (UMLS CUI [1,3])
    C0021641 (UMLS CUI [1,4])
    C0332285 (UMLS CUI [1,5])
    C0205448 (UMLS CUI [1,6])
    C0439234 (UMLS CUI [1,7])
    C0011900 (UMLS CUI [1,8])
    Ritorna all'inizio della pagina 

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