ID

44953

Descrição

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

Palavras-chave

  1. 13/05/2022 13/05/2022 - Martin Dugas
  2. 03/06/2022 03/06/2022 - Dr. Christian Niklas
Titular dos direitos

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

Transferido a

13 de maio de 2022

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000089 NINDS Parkinson's Disease

Diagnostic interview of neurologically healthy subjects

pht000177.v3.p2
Descrição

pht000177.v3.p2

De-identified subject ID number assigned by NINDS Repository
Descrição

Catalog_ID

Tipo de dados

text

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

In_Panel

Tipo de dados

text

Age of subject
Descrição

Age

Tipo de dados

text

Gender of subject
Descrição

Gender

Tipo de dados

text

Race of subject (Caucasian)
Descrição

Race

Tipo de dados

string

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

Ethnicity

Tipo de dados

string

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

Clinical_Data_Source

Tipo de dados

string

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

Clinician_Type

Tipo de dados

string

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

Country_Origin

Tipo de dados

string

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

Data collected by:This data was collected by

Tipo de dados

text

Family history: amyotrophic lateral sclerosis
Descrição

Family History:Amyotrophic lateral sclerosis

Tipo de dados

string

Family history: ataxia
Descrição

Family History:Ataxia

Tipo de dados

string

Family history: autism (absent)
Descrição

Family History:Autism

Tipo de dados

string

Family history: bipolar (manic-depressive disorder)
Descrição

Family History:Bipolar (manic-depressive)

Tipo de dados

string

Family history: brain aneurysm
Descrição

Family History:Brain aneurysm

Tipo de dados

string

Family history: cancer
Descrição

Family History:Cancer

Tipo de dados

string

Family history: dementia
Descrição

Family History:Dementia

Tipo de dados

string

Family history: depression
Descrição

Family History:Depression

Tipo de dados

string

Family history: diabetes
Descrição

Family History:Diabetes

Tipo de dados

string

Family history: dystonia
Descrição

Family History:Dystonia

Tipo de dados

string

Family history: epilepsy
Descrição

Family History:Epilepsy

Tipo de dados

string

Family history: heart disease
Descrição

Family History:Heart disease

Tipo de dados

string

Family history: hypertension
Descrição

Family History:Hypertension

Tipo de dados

string

Family history: memory loss
Descrição

Family History:memory loss

Tipo de dados

string

Family history: migraine
Descrição

Family History:Migraine

Tipo de dados

string

Family history: multiple sclerosis
Descrição

Family History:Multiple sclerosis

Tipo de dados

string

Family history: muscle disease
Descrição

Family History:Muscle disease

Tipo de dados

string

Family history: obsessive compulsive
Descrição

Family History:Obsessive Compulsive

Tipo de dados

string

Family history: other
Descrição

Family History:Other

Tipo de dados

string

Family history: Parkinson's
Descrição

Family History:Parkinson's

Tipo de dados

string

Family history: schizophrenia
Descrição

Family History:Schizophrenia

Tipo de dados

string

Family history: stroke
Descrição

Family History:Stroke

Tipo de dados

string

Family history: suicide attempt
Descrição

Family History:Suicide/Attempt

Tipo de dados

string

Family history: tourettes
Descrição

Family History:Tourettes

Tipo de dados

string

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

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

Tipo de dados

string

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

Medical History:Amyotrophic lateral sclerosis

Tipo de dados

string

Medical history: ataxia (absent, present)
Descrição

Medical History:Ataxia

Tipo de dados

string

Medical history: autism (absent, present)
Descrição

Medical History:Autism

Tipo de dados

string

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

Medical History:Bipolar (manic-depressive)

Tipo de dados

string

Medical history: brain aneurysm (absent, present)
Descrição

Medical History:Brain aneurysm

Tipo de dados

string

Medical history: cancer (absent, present)
Descrição

Medical History:Cancer

Tipo de dados

string

Medical history: dementia (absent, present)
Descrição

Medical History:Dementia

Tipo de dados

string

Medical history: depression (absent, present)
Descrição

Medical History:Depression

Tipo de dados

string

Medical history: diabetes (absent, present)
Descrição

Medical History:Diabetes

Tipo de dados

string

Medical history: dystonia (absent, present)
Descrição

Medical History:Dystonia

Tipo de dados

string

Medical history: epilepsy (absent, present)
Descrição

Medical History:Epilepsy

Tipo de dados

string

Medical history: heart disease (absent, present)
Descrição

Medical History:Heart disease

Tipo de dados

string

Medical history: hypertension (absent, present)
Descrição

Medical History:Hypertension

Tipo de dados

string

Medical history: memory loss (absent, present)
Descrição

Medical History:memory loss

Tipo de dados

string

Medical history: migraine (absent, present)
Descrição

Medical History:Migraine

Tipo de dados

string

Medical history: multiple sclerosis (absent, present)
Descrição

Medical History:Multiple sclerosis

Tipo de dados

string

Medical history: muscle disease (absent, present)
Descrição

Medical History:Muscle disease

Tipo de dados

string

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

Medical History:Obsessive Compulsive

Tipo de dados

text

Medical history: other
Descrição

Medical History:Other

Tipo de dados

string

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

Medical History:Parkinson's

Tipo de dados

string

Medical history: schizophrenia (absent, present)
Descrição

Medical History:Schizophrenia

Tipo de dados

string

Medical history: stroke (absent, present)
Descrição

Medical History:Stroke

Tipo de dados

string

Medical history: suicide attempt (absent, present)
Descrição

Medical History:Suicide/Attempt

Tipo de dados

string

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

Medical History:Tourettes

Tipo de dados

text

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

Optional data:Handedness

Tipo de dados

string

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

Optional data:MMSE (enter score and date)

Tipo de dados

string

Optional data: neurological examination (no, yes)
Descrição

Optional data:Neurological examination

Tipo de dados

string

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

Optional data:smoking history

Tipo de dados

string

Optional data: years smoking
Descrição

Optional data:years smoking

Tipo de dados

string

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

Type of Control:Type of Control

Tipo de dados

string

Similar models

Diagnostic interview of neurologically healthy subjects

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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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