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ID

46155

Descrição

Principal Investigator: Patrick F. Sullivan, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA MeSH: Depressive Disorder, Major https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000486 Our goals are to develop a comprehensive understanding of the genomics of transcription in a population based unselected sample and to discover DNA and RNA biomarkers for major depressive disorder (MDD). This work is essential to developing a more complete understanding of the biological basis of MDD, a common complex trait associated with considerable morbidity, mortality, and personal/societal cost. All biological samples have been collected from well-defined populations, and are now available. First, we conduct a "genetical genomics" or eQTL study of ~800 MZ and ~800DZ twin pairs. Each subject has been assayed for genome-wide SNPs and CNVs and gene expression from peripheral blood sampled under standardized conditions. We determine the genetic architecture (genetic and non-genetic proportions of variance via twin analyses) for every transcript, and the genome-wide associations (i.e., SNP-transcript eQTL pairs). These analyses will be expanded to consider transcriptional modules. The key deliverable is a detailed catalogue of the general and specific architecture of transcription plus raw intensity files. Second, we seek to discover DNA and RNA biomarkers relevant to MDD, capitalizing on the results of a large MDD study with repeated clinical and biological assessments; we have previously shown that PB is a reasonable proxy for CNS expression and employ an advanced modelling framework: (a) Using baseline data, we identify biomarkers for MDD by comparing ~1000 controls with ~1400 MDD cases via comparisons of SNP, CNV, expression transcripts, and transcriptional modules. (b) Using longitudinal data, we contrast gene expression signatures assessed at baseline and two years later in ~200 controls and ~500 MDD cases.

Link

dbGap study=phs000486

Palavras-chave

  1. 16/11/2022 16/11/2022 - Kristina Keller
  2. 13/12/2022 13/12/2022 - Kristina Keller
  3. 29/01/2025 29/01/2025 - Akane Nishihara
Titular dos direitos

Patrick F. Sullivan, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

Transferido a

29 de janeiro de 2025

DOI

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Licença

Creative Commons BY 4.0

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    dbGaP phs000486 Integration of Genomics and Transcriptomics in unselected Twins and in Major Depression

    The dataset provides information about affection status (i.e. Major Depressive Disorder, diagnosed through application of the 'Composite International Diagnostic Interview' [CIDI]), menopausal status, BMI, and lifestyle variables, including alcohol consumption and smoking habits, plus sociodemographic data of participants. Several of the variables were measured twice, at time of the CIDI interview and at a later time during the study.

    pht002805
    Descrição

    pht002805

    De-identified dbGaP Subject ID
    Descrição

    SUBJID

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C2348585
    UMLS CUI [1,2]
    C2346787
    NTR or NESDA study participant
    Descrição

    cohort

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C4554048
    Gender of participant
    Descrição

    Sex

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C4554048
    UMLS CUI [1,2]
    C0079399
    Age at time of sampling
    Descrição

    Age

    Tipo de dados

    text

    Unidades de medida
    • Years
    Alias
    UMLS CUI [1,1]
    C0870078
    UMLS CUI [1,2]
    C0001779
    Years
    Lifetime Major Depressive Disorder, diagnosed by CIDI interview
    Descrição

    MDD

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C1269683
    UMLS CUI [1,2]
    C0451085
    UMLS CUI [1,3]
    C4071830
    Current smoker at time of sampling
    Descrição

    Smoker

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C3241966
    UMLS CUI [1,2]
    C4546337
    Alcohol drinker (ever 12 glasses or more per year)
    Descrição

    Alcohol

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0001948
    Menopause status at time of sampling
    Descrição

    Menostat

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0455962
    UMLS CUI [1,2]
    C4546337
    Body mass index at time of sampling
    Descrição

    BMI

    Tipo de dados

    float

    Unidades de medida
    • kg/m2
    Alias
    UMLS CUI [1,1]
    C1305855
    UMLS CUI [1,2]
    C4546337
    kg/m2
    Educational attainment
    Descrição

    Educat

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0013658
    UMLS CUI [1,2]
    C0001072
    Age at time of second sampling
    Descrição

    Age2

    Tipo de dados

    text

    Unidades de medida
    • Years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C0205436
    UMLS CUI [1,3]
    C0870078
    Number of weeks between first and second sampling
    Descrição

    Nweeks

    Tipo de dados

    text

    Unidades de medida
    • Weeks
    Alias
    UMLS CUI [1,1]
    C0449238
    UMLS CUI [1,2]
    C0870078
    UMLS CUI [1,3]
    C0205435
    UMLS CUI [1,4]
    C0205436
    Major Depressive Disorder diagnosed since initial CIDI interview
    Descrição

    MDD2

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C1269683
    UMLS CUI [1,2]
    C1711239
    UMLS CUI [1,3]
    C0451085
    UMLS CUI [1,4]
    C0205265
    Current smoker at time of second sampling
    Descrição

    Smoker2

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C3241966
    UMLS CUI [1,2]
    C0870078
    UMLS CUI [1,3]
    C0205436
    Alcohol drinker (ever 12 glasses or more per year) at second sampling
    Descrição

    Alcohol2

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0001948
    UMLS CUI [1,2]
    C0870078
    UMLS CUI [1,3]
    C0205436
    Menopause status at time of second sampling
    Descrição

    Menostat2

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0455962
    UMLS CUI [1,2]
    C0870078
    UMLS CUI [1,3]
    C0205436
    Educational attainment at second sampling
    Descrição

    Educat2

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0013658
    UMLS CUI [1,2]
    C0001072
    UMLS CUI [1,3]
    C0870078
    UMLS CUI [1,4]
    C0205436
    Body mass index at time of second sampling
    Descrição

    BMI2

    Tipo de dados

    float

    Unidades de medida
    • kg/m2
    Alias
    UMLS CUI [1,1]
    C1305855
    UMLS CUI [1,2]
    C0870078
    UMLS CUI [1,3]
    C0205436
    kg/m2

    Similar models

    The dataset provides information about affection status (i.e. Major Depressive Disorder, diagnosed through application of the 'Composite International Diagnostic Interview' [CIDI]), menopausal status, BMI, and lifestyle variables, including alcohol consumption and smoking habits, plus sociodemographic data of participants. Several of the variables were measured twice, at time of the CIDI interview and at a later time during the study.

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    pht002805
    SUBJID
    Item
    De-identified dbGaP Subject ID
    text
    C2348585 (UMLS CUI [1,1])
    C2346787 (UMLS CUI [1,2])
    Item
    NTR or NESDA study participant
    text
    C4554048 (UMLS CUI [1,1])
    Code List
    NTR or NESDA study participant
    CL Item
    NTR (1)
    CL Item
    NESDA (2)
    Item
    Gender of participant
    text
    C4554048 (UMLS CUI [1,1])
    C0079399 (UMLS CUI [1,2])
    Code List
    Gender of participant
    CL Item
    Male (1)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Female (2)
    C0086287 (UMLS CUI [1,1])
    Age
    Item
    Age at time of sampling
    text
    C0870078 (UMLS CUI [1,1])
    C0001779 (UMLS CUI [1,2])
    Item
    Lifetime Major Depressive Disorder, diagnosed by CIDI interview
    text
    C1269683 (UMLS CUI [1,1])
    C0451085 (UMLS CUI [1,2])
    C4071830 (UMLS CUI [1,3])
    Code List
    Lifetime Major Depressive Disorder, diagnosed by CIDI interview
    CL Item
    No (0)
    CL Item
    Yes (1)
    Item
    Current smoker at time of sampling
    text
    C3241966 (UMLS CUI [1,1])
    C4546337 (UMLS CUI [1,2])
    Code List
    Current smoker at time of sampling
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (-1)
    Item
    Alcohol drinker (ever 12 glasses or more per year)
    text
    C0001948 (UMLS CUI [1,1])
    Code List
    Alcohol drinker (ever 12 glasses or more per year)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (-1)
    Item
    Menopause status at time of sampling
    text
    C0455962 (UMLS CUI [1,1])
    C4546337 (UMLS CUI [1,2])
    Code List
    Menopause status at time of sampling
    CL Item
    Male/NA (-2)
    C0086582 (UMLS CUI [1,1])
    C0686905 (UMLS CUI [2,1])
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    CL Item
    Not in menopause (1)
    C0025320 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Menopause, natural (2)
    C0856856 (UMLS CUI [1,1])
    CL Item
    Menopause, operation or disease (3)
    C0025320 (UMLS CUI [1,1])
    C0543467 (UMLS CUI [1,2])
    C0025320 (UMLS CUI [2,1])
    C0012634 (UMLS CUI [2,2])
    CL Item
    (Recent) pregnancy (4)
    C2169591 (UMLS CUI [1,1])
    BMI
    Item
    Body mass index at time of sampling
    float
    C1305855 (UMLS CUI [1,1])
    C4546337 (UMLS CUI [1,2])
    Item
    Educational attainment
    text
    C0013658 (UMLS CUI [1,1])
    C0001072 (UMLS CUI [1,2])
    Code List
    Educational attainment
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    CL Item
    Basic (1)
    CL Item
    Intermediate (2)
    C0205103 (UMLS CUI [1,1])
    CL Item
    High (3)
    C0205250 (UMLS CUI [1,1])
    Item
    Age at time of second sampling
    text
    C0001779 (UMLS CUI [1,1])
    C0205436 (UMLS CUI [1,2])
    C0870078 (UMLS CUI [1,3])
    Code List
    Age at time of second sampling
    CL Item
    Missing/NA (-1)
    C1705492 (UMLS CUI [1,1])
    Item
    Number of weeks between first and second sampling
    text
    C0449238 (UMLS CUI [1,1])
    C0870078 (UMLS CUI [1,2])
    C0205435 (UMLS CUI [1,3])
    C0205436 (UMLS CUI [1,4])
    Code List
    Number of weeks between first and second sampling
    CL Item
    Missing/NA (-1)
    C1705492 (UMLS CUI [1,1])
    Item
    Major Depressive Disorder diagnosed since initial CIDI interview
    text
    C1269683 (UMLS CUI [1,1])
    C1711239 (UMLS CUI [1,2])
    C0451085 (UMLS CUI [1,3])
    C0205265 (UMLS CUI [1,4])
    Code List
    Major Depressive Disorder diagnosed since initial CIDI interview
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    Item
    Current smoker at time of second sampling
    text
    C3241966 (UMLS CUI [1,1])
    C0870078 (UMLS CUI [1,2])
    C0205436 (UMLS CUI [1,3])
    Code List
    Current smoker at time of second sampling
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    Item
    Alcohol drinker (ever 12 glasses or more per year) at second sampling
    text
    C0001948 (UMLS CUI [1,1])
    C0870078 (UMLS CUI [1,2])
    C0205436 (UMLS CUI [1,3])
    Code List
    Alcohol drinker (ever 12 glasses or more per year) at second sampling
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    Item
    Menopause status at time of second sampling
    text
    C0455962 (UMLS CUI [1,1])
    C0870078 (UMLS CUI [1,2])
    C0205436 (UMLS CUI [1,3])
    Code List
    Menopause status at time of second sampling
    CL Item
    Male/NA (-2)
    C0086582 (UMLS CUI [1,1])
    C0686905 (UMLS CUI [2,1])
    CL Item
    Not in menopause (1)
    C0025320 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Menopause, natural (2)
    C0856856 (UMLS CUI [1,1])
    CL Item
    Menopause, operation or disease (3)
    C0025320 (UMLS CUI [1,1])
    C0543467 (UMLS CUI [1,2])
    C0025320 (UMLS CUI [2,1])
    C0012634 (UMLS CUI [2,2])
    CL Item
    (Recent) pregnancy (4)
    C2169591 (UMLS CUI [1,1])
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    Item
    Educational attainment at second sampling
    text
    C0013658 (UMLS CUI [1,1])
    C0001072 (UMLS CUI [1,2])
    C0870078 (UMLS CUI [1,3])
    C0205436 (UMLS CUI [1,4])
    Code List
    Educational attainment at second sampling
    CL Item
    Basic (1)
    CL Item
    Intermediate (2)
    C0205103 (UMLS CUI [1,1])
    CL Item
    High (3)
    C0205250 (UMLS CUI [1,1])
    CL Item
    Missing (-1)
    C1705492 (UMLS CUI [1,1])
    BMI2
    Item
    Body mass index at time of second sampling
    float
    C1305855 (UMLS CUI [1,1])
    C0870078 (UMLS CUI [1,2])
    C0205436 (UMLS CUI [1,3])

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