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ID

46155

Descrizione

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.

collegamento

dbGap study=phs000486

Keywords

  1. 16/11/22 16/11/22 - Kristina Keller
  2. 13/12/22 13/12/22 - Kristina Keller
  3. 29/01/25 29/01/25 - Akane Nishihara
Titolare del copyright

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

Caricato su

29 gennaio 2025

DOI

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Licenza

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
    Descrizione

    pht002805

    De-identified dbGaP Subject ID
    Descrizione

    SUBJID

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    UMLS CUI [1,2]
    C2346787 (Anonymous)
    NTR or NESDA study participant
    Descrizione

    cohort

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C4554048 (Study Participant)
    Gender of participant
    Descrizione

    Sex

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C4554048 (Study Participant)
    UMLS CUI [1,2]
    C0079399 (Gender)
    SNOMED
    263495000
    LOINC
    LP61312-2
    Age at time of sampling
    Descrizione

    Age

    Tipo di dati

    text

    Unità di misura
    • Years
    Alias
    UMLS CUI [1,1]
    C0870078 (Sampling)
    UMLS CUI [1,2]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6
    Years
    Lifetime Major Depressive Disorder, diagnosed by CIDI interview
    Descrizione

    MDD

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C1269683 (Major Depressive Disorder)
    SNOMED
    370143000
    UMLS CUI [1,2]
    C0451085 (Composite international diagnostic interview)
    SNOMED
    273378005
    UMLS CUI [1,3]
    C4071830 (Lifetime)
    LOINC
    LP203024-7
    Current smoker at time of sampling
    Descrizione

    Smoker

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C3241966 (Current Smoker)
    UMLS CUI [1,2]
    C4546337 (At time of measurement)
    SNOMED
    762642007
    Alcohol drinker (ever 12 glasses or more per year)
    Descrizione

    Alcohol

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C0001948 (Alcohol consumption)
    SNOMED
    897148007
    LOINC
    MTHU047472
    Menopause status at time of sampling
    Descrizione

    Menostat

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C0455962 (Menopause finding)
    SNOMED
    276477006
    UMLS CUI [1,2]
    C4546337 (At time of measurement)
    SNOMED
    762642007
    Body mass index at time of sampling
    Descrizione

    BMI

    Tipo di dati

    float

    Unità di misura
    • kg/m2
    Alias
    UMLS CUI [1,1]
    C1305855 (Body mass index)
    SNOMED
    60621009
    LOINC
    LP35925-4
    UMLS CUI [1,2]
    C4546337 (At time of measurement)
    SNOMED
    762642007
    kg/m2
    Educational attainment
    Descrizione

    Educat

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C0013658 (Educational Status)
    SNOMED
    266981003
    UMLS CUI [1,2]
    C0001072 (Achievement)
    Age at time of second sampling
    Descrizione

    Age2

    Tipo di dati

    text

    Unità di misura
    • Years
    Alias
    UMLS CUI [1,1]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6
    UMLS CUI [1,2]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    UMLS CUI [1,3]
    C0870078 (Sampling)
    Number of weeks between first and second sampling
    Descrizione

    Nweeks

    Tipo di dati

    text

    Unità di misura
    • Weeks
    Alias
    UMLS CUI [1,1]
    C0449238 (Duration (temporal concept))
    SNOMED
    762636008
    LOINC
    LP14744-4
    UMLS CUI [1,2]
    C0870078 (Sampling)
    UMLS CUI [1,3]
    C0205435 (First (number))
    SNOMED
    255216001
    LOINC
    LP96880-7
    UMLS CUI [1,4]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    Major Depressive Disorder diagnosed since initial CIDI interview
    Descrizione

    MDD2

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C1269683 (Major Depressive Disorder)
    SNOMED
    370143000
    UMLS CUI [1,2]
    C1711239 (Since)
    UMLS CUI [1,3]
    C0451085 (Composite international diagnostic interview)
    SNOMED
    273378005
    UMLS CUI [1,4]
    C0205265 (Initially)
    SNOMED
    884001
    LOINC
    LA6662-6
    Current smoker at time of second sampling
    Descrizione

    Smoker2

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C3241966 (Current Smoker)
    UMLS CUI [1,2]
    C0870078 (Sampling)
    UMLS CUI [1,3]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    Alcohol drinker (ever 12 glasses or more per year) at second sampling
    Descrizione

    Alcohol2

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C0001948 (Alcohol consumption)
    SNOMED
    897148007
    LOINC
    MTHU047472
    UMLS CUI [1,2]
    C0870078 (Sampling)
    UMLS CUI [1,3]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    Menopause status at time of second sampling
    Descrizione

    Menostat2

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C0455962 (Menopause finding)
    SNOMED
    276477006
    UMLS CUI [1,2]
    C0870078 (Sampling)
    UMLS CUI [1,3]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    Educational attainment at second sampling
    Descrizione

    Educat2

    Tipo di dati

    text

    Alias
    UMLS CUI [1,1]
    C0013658 (Educational Status)
    SNOMED
    266981003
    UMLS CUI [1,2]
    C0001072 (Achievement)
    UMLS CUI [1,3]
    C0870078 (Sampling)
    UMLS CUI [1,4]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    Body mass index at time of second sampling
    Descrizione

    BMI2

    Tipo di dati

    float

    Unità di misura
    • kg/m2
    Alias
    UMLS CUI [1,1]
    C1305855 (Body mass index)
    SNOMED
    60621009
    LOINC
    LP35925-4
    UMLS CUI [1,2]
    C0870078 (Sampling)
    UMLS CUI [1,3]
    C0205436 (second (number))
    SNOMED
    81170007
    LOINC
    LP35057-6
    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
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    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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