ID

46155

Beschrijving

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

Trefwoorden

  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
Houder van rechten

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

Geüploaded op

29 januari 2025

DOI

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Licentie

Creative Commons BY 4.0

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

    Subject - Consent Information

    pht002802
    Beschrijving

    pht002802

    Subject ID
    Beschrijving

    SUBJID

    Datatype

    text

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Beschrijving

    CONSENT

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    text

    Alias
    UMLS CUI [1,1]
    C1511481 (Consent)
    LOINC
    LP100037-3
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001

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    Subject - Consent Information

    Name
    Type
    Description | Question | Decode (Coded Value)
    Datatype
    Alias
    Item Group
    pht002802
    SUBJID
    Item
    Subject ID
    text
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group as determined by DAC
    text
    C1511481 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    Subjects did not participate in the study, did not complete a consent document and are included only for the pedigree structure and/or genotype controls, such as HapMap subjects (0)
    CL Item
    Disease-Specific (Psychiatric Disorders and Related Somatic Conditions) (DS-PD-RSC) (1)
    C0004936 (UMLS CUI [1,1])
    C0348080 (UMLS CUI [1,2])
    C2986476 (UMLS CUI [1,3])

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