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ID

44953

Descrizione

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

collegamento

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

Keywords

  1. 13/05/22 13/05/22 - Martin Dugas
  2. 03/06/22 03/06/22 - Dr. Christian Niklas
Titolare del copyright

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

Caricato su

13 maggio 2022

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0

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    dbGaP phs000089 NINDS Parkinson's Disease

    Diagnostic interview of neurologically healthy subjects

    pht000177.v3.p2
    Descrizione

    pht000177.v3.p2

    De-identified subject ID number assigned by NINDS Repository
    Descrizione

    Catalog_ID

    Tipo di dati

    text

    Indicates whether DNA of this subject is included in any panels available through the NINDS Repository catalog
    Descrizione

    In_Panel

    Tipo di dati

    text

    Age of subject
    Descrizione

    Age

    Tipo di dati

    text

    Gender of subject
    Descrizione

    Gender

    Tipo di dati

    text

    Race of subject (Caucasian)
    Descrizione

    Race

    Tipo di dati

    string

    Subject's ethnicity (Not Hispanic/Latino, Hispanic/Latino)
    Descrizione

    Ethnicity

    Tipo di dati

    string

    Source of clinical data (neurologist, other physician-non-neurologist , clinical research assistant/nurse)
    Descrizione

    Clinical_Data_Source

    Tipo di dati

    string

    Type of clinician [does not apply (population or family-based control)]
    Descrizione

    Clinician_Type

    Tipo di dati

    string

    Country of subject's origin (USA, UNITED KINGDOM, U.A.E., SOUTH AFRICA, ITALY, FRANCE, CANADA)
    Descrizione

    Country_Origin

    Tipo di dati

    string

    Data collected by:This data was collected by "Neurologist," "Other physician-non-Neurologist," or "clinical research assistant/nurse."
    Descrizione

    Data collected by:This data was collected by

    Tipo di dati

    text

    Family history: amyotrophic lateral sclerosis
    Descrizione

    Family History:Amyotrophic lateral sclerosis

    Tipo di dati

    string

    Family history: ataxia
    Descrizione

    Family History:Ataxia

    Tipo di dati

    string

    Family history: autism (absent)
    Descrizione

    Family History:Autism

    Tipo di dati

    string

    Family history: bipolar (manic-depressive disorder)
    Descrizione

    Family History:Bipolar (manic-depressive)

    Tipo di dati

    string

    Family history: brain aneurysm
    Descrizione

    Family History:Brain aneurysm

    Tipo di dati

    string

    Family history: cancer
    Descrizione

    Family History:Cancer

    Tipo di dati

    string

    Family history: dementia
    Descrizione

    Family History:Dementia

    Tipo di dati

    string

    Family history: depression
    Descrizione

    Family History:Depression

    Tipo di dati

    string

    Family history: diabetes
    Descrizione

    Family History:Diabetes

    Tipo di dati

    string

    Family history: dystonia
    Descrizione

    Family History:Dystonia

    Tipo di dati

    string

    Family history: epilepsy
    Descrizione

    Family History:Epilepsy

    Tipo di dati

    string

    Family history: heart disease
    Descrizione

    Family History:Heart disease

    Tipo di dati

    string

    Family history: hypertension
    Descrizione

    Family History:Hypertension

    Tipo di dati

    string

    Family history: memory loss
    Descrizione

    Family History:memory loss

    Tipo di dati

    string

    Family history: migraine
    Descrizione

    Family History:Migraine

    Tipo di dati

    string

    Family history: multiple sclerosis
    Descrizione

    Family History:Multiple sclerosis

    Tipo di dati

    string

    Family history: muscle disease
    Descrizione

    Family History:Muscle disease

    Tipo di dati

    string

    Family history: obsessive compulsive
    Descrizione

    Family History:Obsessive Compulsive

    Tipo di dati

    string

    Family history: other
    Descrizione

    Family History:Other

    Tipo di dati

    string

    Family history: Parkinson's
    Descrizione

    Family History:Parkinson's

    Tipo di dati

    string

    Family history: schizophrenia
    Descrizione

    Family History:Schizophrenia

    Tipo di dati

    string

    Family history: stroke
    Descrizione

    Family History:Stroke

    Tipo di dati

    string

    Family history: suicide attempt
    Descrizione

    Family History:Suicide/Attempt

    Tipo di dati

    string

    Family history: tourettes
    Descrizione

    Family History:Tourettes

    Tipo di dati

    string

    Longitudinal data: is this data longitudinal (follow-up) data? (no)
    Descrizione

    Longitudinal Data:Is this data Longitudinal (Follow-Up) Data?

    Tipo di dati

    string

    Medical history: amyotrophic lateral sclerosis (absent, present)
    Descrizione

    Medical History:Amyotrophic lateral sclerosis

    Tipo di dati

    string

    Medical history: ataxia (absent, present)
    Descrizione

    Medical History:Ataxia

    Tipo di dati

    string

    Medical history: autism (absent, present)
    Descrizione

    Medical History:Autism

    Tipo di dati

    string

    Medical history: bipolar (manic-depressive disorder) (absent, present)
    Descrizione

    Medical History:Bipolar (manic-depressive)

    Tipo di dati

    string

    Medical history: brain aneurysm (absent, present)
    Descrizione

    Medical History:Brain aneurysm

    Tipo di dati

    string

    Medical history: cancer (absent, present)
    Descrizione

    Medical History:Cancer

    Tipo di dati

    string

    Medical history: dementia (absent, present)
    Descrizione

    Medical History:Dementia

    Tipo di dati

    string

    Medical history: depression (absent, present)
    Descrizione

    Medical History:Depression

    Tipo di dati

    string

    Medical history: diabetes (absent, present)
    Descrizione

    Medical History:Diabetes

    Tipo di dati

    string

    Medical history: dystonia (absent, present)
    Descrizione

    Medical History:Dystonia

    Tipo di dati

    string

    Medical history: epilepsy (absent, present)
    Descrizione

    Medical History:Epilepsy

    Tipo di dati

    string

    Medical history: heart disease (absent, present)
    Descrizione

    Medical History:Heart disease

    Tipo di dati

    string

    Medical history: hypertension (absent, present)
    Descrizione

    Medical History:Hypertension

    Tipo di dati

    string

    Medical history: memory loss (absent, present)
    Descrizione

    Medical History:memory loss

    Tipo di dati

    string

    Medical history: migraine (absent, present)
    Descrizione

    Medical History:Migraine

    Tipo di dati

    string

    Medical history: multiple sclerosis (absent, present)
    Descrizione

    Medical History:Multiple sclerosis

    Tipo di dati

    string

    Medical history: muscle disease (absent, present)
    Descrizione

    Medical History:Muscle disease

    Tipo di dati

    string

    The presence or absence of obsessive compulsive disorder in the subjects themselves as determined by clinician's interview.
    Descrizione

    Medical History:Obsessive Compulsive

    Tipo di dati

    text

    Medical history: other
    Descrizione

    Medical History:Other

    Tipo di dati

    string

    Medical history: Parkinson's (absent, present)
    Descrizione

    Medical History:Parkinson's

    Tipo di dati

    string

    Medical history: schizophrenia (absent, present)
    Descrizione

    Medical History:Schizophrenia

    Tipo di dati

    string

    Medical history: stroke (absent, present)
    Descrizione

    Medical History:Stroke

    Tipo di dati

    string

    Medical history: suicide attempt (absent, present)
    Descrizione

    Medical History:Suicide/Attempt

    Tipo di dati

    string

    The presence or absence of Tourette's syndrome in the subjects themselves as determined by clinician's interview.
    Descrizione

    Medical History:Tourettes

    Tipo di dati

    text

    Optional data: handedness (right, left, ambidextrous)
    Descrizione

    Optional data:Handedness

    Tipo di dati

    string

    Optional data: the mini-mental state examination (MMSE) (enter score and date)
    Descrizione

    Optional data:MMSE (enter score and date)

    Tipo di dati

    string

    Optional data: neurological examination (no, yes)
    Descrizione

    Optional data:Neurological examination

    Tipo di dati

    string

    Optional data: smoking history (never, former smoker, current smoker)
    Descrizione

    Optional data:smoking history

    Tipo di dati

    string

    Optional data: years smoking
    Descrizione

    Optional data:years smoking

    Tipo di dati

    string

    Type of control: type of control (population control, related to an affected individual, unaffected spouse)
    Descrizione

    Type of Control:Type of Control

    Tipo di dati

    string

    Similar models

    Diagnostic interview of neurologically healthy subjects

    Name
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    Alias
    Item Group
    pht000177.v3.p2
    Catalog_ID
    Item
    De-identified subject ID number assigned by NINDS Repository
    text
    Item
    Indicates whether DNA of this subject is included in any panels available through the NINDS Repository catalog
    text
    Code List
    Indicates whether DNA of this subject is included in any panels available through the NINDS Repository catalog
    CL Item
    No (N)
    CL Item
    Yes (Y)
    Age
    Item
    Age of subject
    text
    Item
    Gender of subject
    text
    Code List
    Gender of subject
    CL Item
    Female (F)
    CL Item
    Male (M)
    Race
    Item
    Race of subject (Caucasian)
    string
    Ethnicity
    Item
    Subject's ethnicity (Not Hispanic/Latino, Hispanic/Latino)
    string
    Clinical_Data_Source
    Item
    Source of clinical data (neurologist, other physician-non-neurologist , clinical research assistant/nurse)
    string
    Clinician_Type
    Item
    Type of clinician [does not apply (population or family-based control)]
    string
    Country_Origin
    Item
    Country of subject's origin (USA, UNITED KINGDOM, U.A.E., SOUTH AFRICA, ITALY, FRANCE, CANADA)
    string
    Data collected by:This data was collected by
    Item
    Data collected by:This data was collected by "Neurologist," "Other physician-non-Neurologist," or "clinical research assistant/nurse."
    text
    Family History:Amyotrophic lateral sclerosis
    Item
    Family history: amyotrophic lateral sclerosis
    string
    Family History:Ataxia
    Item
    Family history: ataxia
    string
    Family History:Autism
    Item
    Family history: autism (absent)
    string
    Family History:Bipolar (manic-depressive)
    Item
    Family history: bipolar (manic-depressive disorder)
    string
    Family History:Brain aneurysm
    Item
    Family history: brain aneurysm
    string
    Family History:Cancer
    Item
    Family history: cancer
    string
    Family History:Dementia
    Item
    Family history: dementia
    string
    Family History:Depression
    Item
    Family history: depression
    string
    Family History:Diabetes
    Item
    Family history: diabetes
    string
    Family History:Dystonia
    Item
    Family history: dystonia
    string
    Family History:Epilepsy
    Item
    Family history: epilepsy
    string
    Family History:Heart disease
    Item
    Family history: heart disease
    string
    Family History:Hypertension
    Item
    Family history: hypertension
    string
    Family History:memory loss
    Item
    Family history: memory loss
    string
    Family History:Migraine
    Item
    Family history: migraine
    string
    Family History:Multiple sclerosis
    Item
    Family history: multiple sclerosis
    string
    Family History:Muscle disease
    Item
    Family history: muscle disease
    string
    Family History:Obsessive Compulsive
    Item
    Family history: obsessive compulsive
    string
    Family History:Other
    Item
    Family history: other
    string
    Family History:Parkinson's
    Item
    Family history: Parkinson's
    string
    Family History:Schizophrenia
    Item
    Family history: schizophrenia
    string
    Family History:Stroke
    Item
    Family history: stroke
    string
    Family History:Suicide/Attempt
    Item
    Family history: suicide attempt
    string
    Family History:Tourettes
    Item
    Family history: tourettes
    string
    Longitudinal Data:Is this data Longitudinal (Follow-Up) Data?
    Item
    Longitudinal data: is this data longitudinal (follow-up) data? (no)
    string
    Medical History:Amyotrophic lateral sclerosis
    Item
    Medical history: amyotrophic lateral sclerosis (absent, present)
    string
    Medical History:Ataxia
    Item
    Medical history: ataxia (absent, present)
    string
    Medical History:Autism
    Item
    Medical history: autism (absent, present)
    string
    Medical History:Bipolar (manic-depressive)
    Item
    Medical history: bipolar (manic-depressive disorder) (absent, present)
    string
    Medical History:Brain aneurysm
    Item
    Medical history: brain aneurysm (absent, present)
    string
    Medical History:Cancer
    Item
    Medical history: cancer (absent, present)
    string
    Medical History:Dementia
    Item
    Medical history: dementia (absent, present)
    string
    Medical History:Depression
    Item
    Medical history: depression (absent, present)
    string
    Medical History:Diabetes
    Item
    Medical history: diabetes (absent, present)
    string
    Medical History:Dystonia
    Item
    Medical history: dystonia (absent, present)
    string
    Medical History:Epilepsy
    Item
    Medical history: epilepsy (absent, present)
    string
    Medical History:Heart disease
    Item
    Medical history: heart disease (absent, present)
    string
    Medical History:Hypertension
    Item
    Medical history: hypertension (absent, present)
    string
    Medical History:memory loss
    Item
    Medical history: memory loss (absent, present)
    string
    Medical History:Migraine
    Item
    Medical history: migraine (absent, present)
    string
    Medical History:Multiple sclerosis
    Item
    Medical history: multiple sclerosis (absent, present)
    string
    Medical History:Muscle disease
    Item
    Medical history: muscle disease (absent, present)
    string
    Medical History:Obsessive Compulsive
    Item
    The presence or absence of obsessive compulsive disorder in the subjects themselves as determined by clinician's interview.
    text
    Medical History:Other
    Item
    Medical history: other
    string
    Medical History:Parkinson's
    Item
    Medical history: Parkinson's (absent, present)
    string
    Medical History:Schizophrenia
    Item
    Medical history: schizophrenia (absent, present)
    string
    Medical History:Stroke
    Item
    Medical history: stroke (absent, present)
    string
    Medical History:Suicide/Attempt
    Item
    Medical history: suicide attempt (absent, present)
    string
    Medical History:Tourettes
    Item
    The presence or absence of Tourette's syndrome in the subjects themselves as determined by clinician's interview.
    text
    Optional data:Handedness
    Item
    Optional data: handedness (right, left, ambidextrous)
    string
    Optional data:MMSE (enter score and date)
    Item
    Optional data: the mini-mental state examination (MMSE) (enter score and date)
    string
    Optional data:Neurological examination
    Item
    Optional data: neurological examination (no, yes)
    string
    Optional data:smoking history
    Item
    Optional data: smoking history (never, former smoker, current smoker)
    string
    Optional data:years smoking
    Item
    Optional data: years smoking
    string
    Type of Control:Type of Control
    Item
    Type of control: type of control (population control, related to an affected individual, unaffected spouse)
    string

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