0 Ratings

ID

45959

Description

Principal Investigator: Michael Boehnke, University of Michigan, Ann Arbor, MI, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000867 The Finland-United States Investigation of NIDDM Genetics (FUSION) study is a long-term effort to identify genetic variants that predispose to type 2 diabetes (T2D) or that impact the variability of T2D-related quantitative traits. The initial effort involved linkage analysis of affected-sibling-pair (ASP) families based on over 5,000 individuals living in Finland, and association fine mapping based on these family members and additional T2D cases and controls. We completed a genome-wide association scan on 1161 T2D cases and 1174 normal glucose tolerant (NGT) controls. Individual-level data is available for the 919 T2D cases and 787 NGT controls who reconsented to the use of their data or are deceased (phs000100). In addition, we selected these 919 T2D cases and a matched set of 919 NGT controls (774 overlapping with GWAS) for targeted sequencing of 78 genes associated with glucose, insulin, and/or lipids. 400 of these T2D cases were also chosen for whole-exome sequencing (phs000702).

Link

dbGaP study=phs000867

Keywords

  1. 3/16/24 3/16/24 - Madita Rudolph
Copyright Holder

Michael Boehnke, University of Michigan, Ann Arbor, MI, USA

Uploaded on

March 16, 2024

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000867 The Finland-United States Investigation of NIDDM Genetics (FUSION) Study

    Subject - Consent - Affection Status Information

    pht004481
    Description

    pht004481

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Description

    SUBJECT_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group
    Description

    CONSENT

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001
    Case-control status of the subject
    Description

    AFFECTION_STATUS

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)

    Similar models

    Subject - Consent - Affection Status Information

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht004481
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group
    text
    C0021430 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group
    CL Item
    General Research Use (IRB) (GRU-IRB) (1)
    C0021430 (UMLS CUI [1,1])
    C0242481 (UMLS CUI [1,2])
    Item
    Case-control status of the subject
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Case-control status of the subject
    CL Item
    Control (1)
    C3274648 (UMLS CUI [1,1])
    CL Item
    Case (2)
    C3274647 (UMLS CUI [1,1])

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