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ID

44973

Beschreibung

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000089.v3.p2 Epidemiological studies have estimated a cumulative prevalence of PD of greater than 1 per thousand. When prevalence is limited to senior populations, this proportion increases nearly 10-fold. The estimated genetic risk ratio for PD is approximately 1.7 (70% increased risk for PD if a sibling has PD) for all ages, and increases over 7-fold for those under age 66 years. The role for genes contributing to the risk of PD is therefore significant. This study utilized the well characterized collection of North American Caucasians with Parkinson's disease, and neurologically normal controls from the sample population which are banked in the National Institute of Neurological Disorders and Stroke (NINDS Repository) collection for a first stage whole genome analysis. Genome-wide, single nucleotide polymorphism (SNP) genotyping of these publicly available samples was originally done in 267 Parkinson's disease patients and 270 controls, and this has been extended to include genome wide genotyping in 939 Parkinson's disease cases and 802 controls. The NINDS repository was established in 10-2001 towards the goal of developing standardized, broadly useful diagnostic and other clinical data and a collection of DNA and cell line samples to further advances in gene discovery of neurological disorders. All samples, phenotypic, and genotypic data are available to the research community including to academics and industry scientists. In addition, well characterized neurologically normal control subjects are a part of the collection. This collection formed the basis of this first stage study by Fung et al., and the expanded study by Simon-Sanchez et al. The genotyping data was generated and provided by the laboratory of Dr. Andrew Singleton NIA, and Dr. John Hardy NIA (NIH Intramural, funding from NIA and NINDS). *Important links to apply for individual-level data* - Data Use Certification Requirements (DUC) - Apply here for controlled access to individual level data - Participant Protection Policy FAQ

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000089.v3.p2

Stichworte

  1. 13/05/22 13/05/22 - Martin Dugas
  2. 03/06/22 03/06/22 - Dr. Christian Niklas
Rechteinhaber

Hong-Chung Fung, National Institute of Aging, National Institutes of Health, Bethesda, MD, USA, Chang Gung Memorial Hospital, Taiwan, and University College London, UK

Hochgeladen am

3 giugno 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    44953_dbGaP phs000089 NINDS Parkinson's Disease

    Subject ID, subject source, consent group, and affection status of subjects affected or not affected with Parkinson disease

    pht000801.v2.p2
    Beschreibung

    pht000801.v2.p2

    Subject ID
    Beschreibung

    SUBJID

    Datentyp

    string

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

    CONSENT

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C1547872 (Consent Type)
    Source repository where subjects originate (Coriell)
    Beschreibung

    SUBJ_SOURCE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C0080105 (Research Subject)
    Subject ID used in the Source Repository
    Beschreibung

    SOURCE_SUBJID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    UMLS CUI [1,3]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Affection Status (1=Control, 2=Case)
    Beschreibung

    AFFECTION_STATUS

    Datentyp

    text

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

    Ähnliche Modelle

    Subject ID, subject source, consent group, and affection status of subjects affected or not affected with Parkinson disease

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht000801.v2.p2
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group
    text
    C1547872 (UMLS CUI [1,1])
    Code List
    Consent group
    CL Item
    General Research Use (1)
    C1547872 (UMLS CUI [1,1])
    SUBJ_SOURCE
    Item
    Source repository where subjects originate (Coriell)
    string
    C0449416 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0080105 (UMLS CUI [1,3])
    SOURCE_SUBJID
    Item
    Subject ID used in the Source Repository
    string
    C0449416 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C2348585 (UMLS CUI [1,3])
    Item
    Affection Status (1=Control, 2=Case)
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Affection Status (1=Control, 2=Case)
    CL Item
    Control (1)
    C0009932 (UMLS CUI [1,1])
    CL Item
    Case (2)
    C1706256 (UMLS CUI [1,1])

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