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ID

45609

Beschreibung

Principal Investigator: Jose Florez, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and Massachusetts General Hospital, Boston, MA, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001375 The ~52,000 sample Type 2 Diabetes Exome Sequencing project is a collaboration of six consortia with various funding mechanisms that have joined together to investigate genetic variants for type 2 diabetes (T2D) using the largest T2D case/control sample set compiled to date. This includes samples from: - Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) - Genetics of Type 2 Diabetes (GoT2D) - Exome Sequencing Project (ESP) - Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D) - Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP) - Progress in Diabetes Genetics in Youth (ProDIGY) This data generated from the SIGMA Mexico City Diabetes Study was part of the Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D), which is an international research consortium funded by the Carlos Slim Foundation that seeks to identify the genetic risk factors for type 2 diabetes (T2D) in Mexico and Latin America and translate those findings into improved treatment and prevention of diabetes. The SIGMA T2D project has sequenced and genotyped more than 13,000 samples from Mexican and Mexican Americans. The individuals were obtained from over 20 cohorts across the 6 consortia that are listed in Table 1. The strategy was to perform deep exome sequencing of individuals, 24,991 with T2D and 24,953 controls, divided among five ancestry groups: Europeans, East Asians, South Asians, American Hispanics, and African Americans. The T2D-GENES, ProDIGY and SIGMA studies, sequencing was performed at the Broad Institute using the Agilent v2 capture reagent or Illumina Rapid Capture on Illumina HiSeq machines. Please note that while we summarize the full sample list in publications and below, two of the cohorts below are not in dbGaP, due to the samples not being consented for deposition. This includes the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) study and Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp) study. The Exome Sequencing Project (ESP) was deposited in dbGaP as part of their initial study and the phs numbers for that project can be found here: https://esp.gs.washington.edu/drupal/dbGaP_Releases table style="width:100%" border="1" captionTable 1. 52,000 sample T2D Case/Control Whole Exome Sequencing Studies/caption tbodytr thAncestry/th thConsortia/th thStudy/th thCountries of Origin/th th# Cases/th th# Controls/th /tr tr tdAfrican American/td tdT2D-GENES Project 1/td tdJackson Heart Study/td tdUS/td td500/td td526/td /tr tr tdAfrican American/td tdT2D-GENES Project 1/td tdWake Forest School of Medicine Study/td tdUS/td td518/td td530/td /tr tr tdAfrican American/td tdESP/td tdExome Sequencing Project (ESP)/td tdUS/td td467/td td1374/td /tr tr tdAfrican American/td tdT2D-GENES Follow up study/td tdBioMe Biobank Program (BioMe)/td tdUS/td td1297/td td1256/td /tr tr tdEast Asian/td tdT2D-GENES Project 1/td tdKorea Association Research Project/td tdKorea/td td526/td td561/td /tr tr tdEast Asian/td tdT2D-GENES Project 1& Follow up Study/td tdSingapore Diabetes Cohort Study; Singapore Prospective Study Program/td tdSingapore (Chinese)/td td1486/td td1568/td /tr tr tdEast Asian/td tdT2D-GENES Follow up study/td tdKorea SNUH/td tdSouth Korea/td td450/td td475/td /tr tr tdEast Asian/td tdT2D-GENES Follow up study/td tdResearch Studies in Hong Kong (Hong Kong)/td tdHong Kong/td td493/td td485/td /tr tr tdEuropean/td tdT2D-GENES Project 1/td tdAshkenazi/td tdUS, Israel/td td506/td td355/td /tr tr tdEuropean/td tdT2D-GENES Project 1/td tdMetabolic Syndrome in Men Study (METSIM)/td tdFinland/td td484/td td498/td /tr tr tdEuropean/td tdGoT2D/td tdFinland-United States Investigation of NIDDM Genetics (FUSION) Study/td tdFinland/td td472/td td476/td /tr tr tdEuropean/td tdGoT2D/td tdKooperative Gesundheitsforschung in der Region Augsburg (KORA)/td tdGermany/td td97/td td90/td /tr tr tdEuropean/td tdGoT2D/td tdUK Type 2 Diabetes Genetics Consortium (UKT2D)/td tdUK/td td322/td td320/td /tr tr tdEuropean/td tdGoT2D/td tdMalmo-Botnia Study/td tdFinland, Sweden/td td478/td td443/td /tr tr tdEuropean/td tdLuCamp/td tdLundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)/td tdDenmark/td td997/td td997/td /tr tr tdEuropean/td tdESP/td tdExome Sequencing Project (ESP)/td tdUS/td td390/td td2843/td /tr tr tdEuropean/td tdT2D-GENES Follow up study/td tdGenetics of Diabetes and Audit Research Tayside Study (GoDARTS)/td tdScotland, UK/td td960/td td966/td /tr tr tdEuropean/td tdT2D-GENES Follow up study/td tdFramingham Heart Study (FHS)/td tdUS/td td396/td td596/td /tr tr tdHispanic/td tdT2D-GENES Project 1/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 td218/td /tr tr tdHispanic/td tdT2D-GENES Project 1 & SIGMAv2/td tdStarr County, Texas/td tdUS/td td1762/td td1738/td /tr tr tdHispanic/td tdSIGMAv1/td tdMexico City Diabetes Study/td tdMexico/td td281/td td549/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdMultiethnic Cohort (MEC)/td tdUS/td td1476/td td1443/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdUNAM/INCMNSZ Diabetes Study (UIDS)/td tdMexico/td td1998/td td1977/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdDiabetes in Mexico Study (DMS)/td tdMexico/td td1522/td td1546/td /tr tr tdMulti ethnic/td tdProDIGY/td tdTreatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)/td tdUS/td td3097/td td0/td /tr tr tdMulti ethnic/td tdProDIGY/td tdSEARCH for Diabetes in Youth (SEARCH)/td tdUS/td td553/td td0/td /tr tr tdSouth Asian/td tdT2D-GENES Project 1/td tdLondon Life Sciences Population Study (LOLIPOP)/td tdUK (Indian Asian)/td td531/td td538/td /tr tr tdSouth Asian/td tdT2D-GENES Project 1 & Follow up study/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td1640/td td1478/td /tr tr tdSouth Asian/td tdT2D-GENES Follow up study/td tdPakistan Genomic Resource (PGR)/td tdPakistan/td td914/td td932/td /tr /tbody/table

Link

dbGaP-study=phs001375

Stichworte

  1. 21.02.23 21.02.23 - Chiara Middel
Rechteinhaber

Jose Florez, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and Massachusetts General Hospital, Boston, MA, USA

Hochgeladen am

21. Februar 2023

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs001375 Slim Initiative in Genomic Medicine for the Americas (SIGMA): Mexico City Diabetes Study (MCDS)

    This subject phenotype table contains subject IDs, sex, age, diabetes status, BMI, consortium name, ancestry name, cohort name, sample IDs, family IDs, c-peptide, c-peptide level post 2 hour glucose tolerance test, diastolic blood pressure, fasting glucose, fasting insulin, 2-hour glucose, glycated hemoglobin A1c, high-density lipoprotein, height, hip cicumference, homeostatic model assessment for beta cell function, insulin post 2 hour glucose tolerance test, low-density lipoprotein, leptin, systolic blood pressure, total cholesterol, triglycerides, ratio of triglyceride to high-density lipoprotein, waist circumference, waist to hip ratio, adiponectin, creatinine, homeostatic model assessment for insulin resistance, and medication for lipid levels.

    pht006522
    Beschreibung

    pht006522

    Alias
    UMLS CUI [1,1]
    C3846158
    Study ID
    Beschreibung

    SUBJECT_ID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2826693
    Sex
    Beschreibung

    SEX

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Age at study
    Beschreibung

    AGE

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C0011008
    UMLS CUI [1,3]
    C0008976
    Diabetes disease status
    Beschreibung

    T2D

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0011849
    UMLS CUI [1,2]
    C0012634
    UMLS CUI [1,3]
    C0449438
    BMI
    Beschreibung

    BMI

    Datentyp

    float

    Maßeinheiten
    • kg/m2
    Alias
    UMLS CUI [1,1]
    C1305855
    kg/m2
    Consortium name
    Beschreibung

    CONSORTIUM

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0027365
    UMLS CUI [1,2]
    C1880171
    Ancestry name
    Beschreibung

    ANCESTRY

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C3841890
    UMLS CUI [1,2]
    C0027365
    Sample ID
    Beschreibung

    SAMPLE_ID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Family ID
    Beschreibung

    FAMID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C3669174
    C-peptide
    Beschreibung

    cpep

    Datentyp

    float

    Maßeinheiten
    • ng/mL
    Alias
    UMLS CUI [1,1]
    C0006558
    ng/mL
    C-peptide level post 2 hour glucose tolerance test
    Beschreibung

    cpep_2hr

    Datentyp

    float

    Maßeinheiten
    • ng/mL
    Alias
    UMLS CUI [1,1]
    C0006558
    UMLS CUI [1,2]
    C0029161
    ng/mL
    Diastolic blood pressure
    Beschreibung

    dbp

    Datentyp

    float

    Maßeinheiten
    • mmHg
    Alias
    UMLS CUI [1,1]
    C0428883
    mmHg
    Fasting glucose
    Beschreibung

    fg

    Datentyp

    float

    Maßeinheiten
    • mmol/L
    Alias
    UMLS CUI [1,1]
    C0202045
    mmol/L
    Fasting insulin
    Beschreibung

    fi

    Datentyp

    float

    Maßeinheiten
    • uIU/mL
    Alias
    UMLS CUI [1,1]
    C0015663
    UMLS CUI [1,2]
    C0202098
    uIU/mL
    2-hour glucose
    Beschreibung

    glu_2hr

    Datentyp

    float

    Maßeinheiten
    • ng/mL
    Alias
    UMLS CUI [1,1]
    C2238058
    ng/mL
    Glycated hemoglobin A1c
    Beschreibung

    hba1c

    Datentyp

    float

    Maßeinheiten
    • %
    Alias
    UMLS CUI [1,1]
    C0474680
    %
    High-density lipoprotein
    Beschreibung

    hdl

    Datentyp

    float

    Maßeinheiten
    • mg/dL
    Alias
    UMLS CUI [1,1]
    C0392885
    mg/dL
    Height
    Beschreibung

    height

    Datentyp

    float

    Maßeinheiten
    • cm
    Alias
    UMLS CUI [1,1]
    C0005890
    cm
    Hip cicumference
    Beschreibung

    hipc

    Datentyp

    float

    Maßeinheiten
    • cm
    Alias
    UMLS CUI [1,1]
    C0562350
    cm
    Homeostatic Model Assessment for Beta Cell Function
    Beschreibung

    homab

    Datentyp

    float

    Alias
    UMLS CUI [1,1]
    C1829779
    UMLS CUI [1,2]
    C4055385
    Insulin post 2 hour glucose tolerance test
    Beschreibung

    ins_2hr

    Datentyp

    float

    Maßeinheiten
    • uIU/mL
    Alias
    UMLS CUI [1,1]
    C2238058
    UMLS CUI [1,2]
    C0029161
    UMLS CUI [1,3]
    C0202098
    uIU/mL
    Low-density lipoprotein
    Beschreibung

    ldl

    Datentyp

    float

    Maßeinheiten
    • mg/dL
    Alias
    UMLS CUI [1,1]
    C0202117
    mg/dL
    Leptin
    Beschreibung

    leptin

    Datentyp

    float

    Maßeinheiten
    • ng/mL
    Alias
    UMLS CUI [1,1]
    C1295176
    ng/mL
    Systolic blood pressure
    Beschreibung

    sbp

    Datentyp

    float

    Maßeinheiten
    • mmHg
    Alias
    UMLS CUI [1,1]
    C0871470
    mmHg
    Total cholesterol
    Beschreibung

    tchol

    Datentyp

    float

    Maßeinheiten
    • mg/dL
    Alias
    UMLS CUI [1,1]
    C1445957
    mg/dL
    Triglycerides
    Beschreibung

    tg

    Datentyp

    float

    Maßeinheiten
    • mg/dL
    Alias
    UMLS CUI [1,1]
    C0202236
    mg/dL
    Ratio of triglyceride to high-density lipoprotein
    Beschreibung

    tg_hdl_ratio

    Datentyp

    float

    Alias
    UMLS CUI [1,1]
    C0456603
    UMLS CUI [1,2]
    C0202236
    UMLS CUI [1,3]
    C0392885
    Waist circumference
    Beschreibung

    waistc

    Datentyp

    float

    Maßeinheiten
    • cm
    Alias
    UMLS CUI [1,1]
    C0455829
    cm
    Waist to hip ratio
    Beschreibung

    whr

    Datentyp

    float

    Alias
    UMLS CUI [1,1]
    C0205682
    Adiponectin
    Beschreibung

    adiponectin

    Datentyp

    float

    Maßeinheiten
    • mg/mL
    Alias
    UMLS CUI [1,1]
    C2700366
    mg/mL
    Creatinine
    Beschreibung

    creatinine

    Datentyp

    float

    Maßeinheiten
    • mg/dL
    Alias
    UMLS CUI [1,1]
    C0201976
    mg/dL
    Homeostatic Model Assessment for Insulin Resistance
    Beschreibung

    homair

    Datentyp

    float

    Alias
    UMLS CUI [1,1]
    C0021655
    UMLS CUI [1,2]
    C1829779
    Medication for lipid levels
    Beschreibung

    lipid_meds

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0585943
    Cohort name
    Beschreibung

    COHORT

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0599755
    UMLS CUI [1,2]
    C0027365

    Ähnliche Modelle

    This subject phenotype table contains subject IDs, sex, age, diabetes status, BMI, consortium name, ancestry name, cohort name, sample IDs, family IDs, c-peptide, c-peptide level post 2 hour glucose tolerance test, diastolic blood pressure, fasting glucose, fasting insulin, 2-hour glucose, glycated hemoglobin A1c, high-density lipoprotein, height, hip cicumference, homeostatic model assessment for beta cell function, insulin post 2 hour glucose tolerance test, low-density lipoprotein, leptin, systolic blood pressure, total cholesterol, triglycerides, ratio of triglyceride to high-density lipoprotein, waist circumference, waist to hip ratio, adiponectin, creatinine, homeostatic model assessment for insulin resistance, and medication for lipid levels.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht006522
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Study ID
    string
    C2826693 (UMLS CUI [1,1])
    Item
    Sex
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Sex
    CL Item
    Male (1)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Female (2)
    C0086287 (UMLS CUI [1,1])
    AGE
    Item
    Age at study
    text
    C0001779 (UMLS CUI [1,1])
    C0011008 (UMLS CUI [1,2])
    C0008976 (UMLS CUI [1,3])
    Item
    Diabetes disease status
    text
    C0011849 (UMLS CUI [1,1])
    C0012634 (UMLS CUI [1,2])
    C0449438 (UMLS CUI [1,3])
    Code List
    Diabetes disease status
    CL Item
    Not T2D (0)
    CL Item
    T2D (1)
    BMI
    Item
    BMI
    float
    C1305855 (UMLS CUI [1,1])
    CONSORTIUM
    Item
    Consortium name
    string
    C0027365 (UMLS CUI [1,1])
    C1880171 (UMLS CUI [1,2])
    Item
    Ancestry name
    string
    C3841890 (UMLS CUI [1,1])
    C0027365 (UMLS CUI [1,2])
    Code List
    Ancestry name
    CL Item
    not applicable (NA)
    C1272460 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    FAMID
    Item
    Family ID
    string
    C3669174 (UMLS CUI [1,1])
    cpep
    Item
    C-peptide
    float
    C0006558 (UMLS CUI [1,1])
    cpep_2hr
    Item
    C-peptide level post 2 hour glucose tolerance test
    float
    C0006558 (UMLS CUI [1,1])
    C0029161 (UMLS CUI [1,2])
    dbp
    Item
    Diastolic blood pressure
    float
    C0428883 (UMLS CUI [1,1])
    fg
    Item
    Fasting glucose
    float
    C0202045 (UMLS CUI [1,1])
    fi
    Item
    Fasting insulin
    float
    C0015663 (UMLS CUI [1,1])
    C0202098 (UMLS CUI [1,2])
    glu_2hr
    Item
    2-hour glucose
    float
    C2238058 (UMLS CUI [1,1])
    hba1c
    Item
    Glycated hemoglobin A1c
    float
    C0474680 (UMLS CUI [1,1])
    hdl
    Item
    High-density lipoprotein
    float
    C0392885 (UMLS CUI [1,1])
    height
    Item
    Height
    float
    C0005890 (UMLS CUI [1,1])
    hipc
    Item
    Hip cicumference
    float
    C0562350 (UMLS CUI [1,1])
    homab
    Item
    Homeostatic Model Assessment for Beta Cell Function
    float
    C1829779 (UMLS CUI [1,1])
    C4055385 (UMLS CUI [1,2])
    ins_2hr
    Item
    Insulin post 2 hour glucose tolerance test
    float
    C2238058 (UMLS CUI [1,1])
    C0029161 (UMLS CUI [1,2])
    C0202098 (UMLS CUI [1,3])
    ldl
    Item
    Low-density lipoprotein
    float
    C0202117 (UMLS CUI [1,1])
    leptin
    Item
    Leptin
    float
    C1295176 (UMLS CUI [1,1])
    sbp
    Item
    Systolic blood pressure
    float
    C0871470 (UMLS CUI [1,1])
    tchol
    Item
    Total cholesterol
    float
    C1445957 (UMLS CUI [1,1])
    tg
    Item
    Triglycerides
    float
    C0202236 (UMLS CUI [1,1])
    tg_hdl_ratio
    Item
    Ratio of triglyceride to high-density lipoprotein
    float
    C0456603 (UMLS CUI [1,1])
    C0202236 (UMLS CUI [1,2])
    C0392885 (UMLS CUI [1,3])
    waistc
    Item
    Waist circumference
    float
    C0455829 (UMLS CUI [1,1])
    whr
    Item
    Waist to hip ratio
    float
    C0205682 (UMLS CUI [1,1])
    adiponectin
    Item
    Adiponectin
    float
    C2700366 (UMLS CUI [1,1])
    creatinine
    Item
    Creatinine
    float
    C0201976 (UMLS CUI [1,1])
    homair
    Item
    Homeostatic Model Assessment for Insulin Resistance
    float
    C0021655 (UMLS CUI [1,1])
    C1829779 (UMLS CUI [1,2])
    Item
    Medication for lipid levels
    text
    C0585943 (UMLS CUI [1,1])
    Code List
    Medication for lipid levels
    CL Item
    no (0)
    CL Item
    yes (1)
    COHORT
    Item
    Cohort name
    string
    C0599755 (UMLS CUI [1,1])
    C0027365 (UMLS CUI [1,2])

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