ID

44953

Descripción

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

Palabras clave

  1. 13/5/22 13/5/22 - Martin Dugas
  2. 3/6/22 3/6/22 - Dr. Christian Niklas
Titular de derechos de autor

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

Subido en

13 de mayo de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000089 NINDS Parkinson's Disease

Diagnostic interview of neurologically healthy subjects

pht000177.v3.p2
Descripción

pht000177.v3.p2

De-identified subject ID number assigned by NINDS Repository
Descripción

Catalog_ID

Tipo de datos

text

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

In_Panel

Tipo de datos

text

Age of subject
Descripción

Age

Tipo de datos

text

Gender of subject
Descripción

Gender

Tipo de datos

text

Race of subject (Caucasian)
Descripción

Race

Tipo de datos

string

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

Ethnicity

Tipo de datos

string

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

Clinical_Data_Source

Tipo de datos

string

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

Clinician_Type

Tipo de datos

string

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

Country_Origin

Tipo de datos

string

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

Data collected by:This data was collected by

Tipo de datos

text

Family history: amyotrophic lateral sclerosis
Descripción

Family History:Amyotrophic lateral sclerosis

Tipo de datos

string

Family history: ataxia
Descripción

Family History:Ataxia

Tipo de datos

string

Family history: autism (absent)
Descripción

Family History:Autism

Tipo de datos

string

Family history: bipolar (manic-depressive disorder)
Descripción

Family History:Bipolar (manic-depressive)

Tipo de datos

string

Family history: brain aneurysm
Descripción

Family History:Brain aneurysm

Tipo de datos

string

Family history: cancer
Descripción

Family History:Cancer

Tipo de datos

string

Family history: dementia
Descripción

Family History:Dementia

Tipo de datos

string

Family history: depression
Descripción

Family History:Depression

Tipo de datos

string

Family history: diabetes
Descripción

Family History:Diabetes

Tipo de datos

string

Family history: dystonia
Descripción

Family History:Dystonia

Tipo de datos

string

Family history: epilepsy
Descripción

Family History:Epilepsy

Tipo de datos

string

Family history: heart disease
Descripción

Family History:Heart disease

Tipo de datos

string

Family history: hypertension
Descripción

Family History:Hypertension

Tipo de datos

string

Family history: memory loss
Descripción

Family History:memory loss

Tipo de datos

string

Family history: migraine
Descripción

Family History:Migraine

Tipo de datos

string

Family history: multiple sclerosis
Descripción

Family History:Multiple sclerosis

Tipo de datos

string

Family history: muscle disease
Descripción

Family History:Muscle disease

Tipo de datos

string

Family history: obsessive compulsive
Descripción

Family History:Obsessive Compulsive

Tipo de datos

string

Family history: other
Descripción

Family History:Other

Tipo de datos

string

Family history: Parkinson's
Descripción

Family History:Parkinson's

Tipo de datos

string

Family history: schizophrenia
Descripción

Family History:Schizophrenia

Tipo de datos

string

Family history: stroke
Descripción

Family History:Stroke

Tipo de datos

string

Family history: suicide attempt
Descripción

Family History:Suicide/Attempt

Tipo de datos

string

Family history: tourettes
Descripción

Family History:Tourettes

Tipo de datos

string

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

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

Tipo de datos

string

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

Medical History:Amyotrophic lateral sclerosis

Tipo de datos

string

Medical history: ataxia (absent, present)
Descripción

Medical History:Ataxia

Tipo de datos

string

Medical history: autism (absent, present)
Descripción

Medical History:Autism

Tipo de datos

string

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

Medical History:Bipolar (manic-depressive)

Tipo de datos

string

Medical history: brain aneurysm (absent, present)
Descripción

Medical History:Brain aneurysm

Tipo de datos

string

Medical history: cancer (absent, present)
Descripción

Medical History:Cancer

Tipo de datos

string

Medical history: dementia (absent, present)
Descripción

Medical History:Dementia

Tipo de datos

string

Medical history: depression (absent, present)
Descripción

Medical History:Depression

Tipo de datos

string

Medical history: diabetes (absent, present)
Descripción

Medical History:Diabetes

Tipo de datos

string

Medical history: dystonia (absent, present)
Descripción

Medical History:Dystonia

Tipo de datos

string

Medical history: epilepsy (absent, present)
Descripción

Medical History:Epilepsy

Tipo de datos

string

Medical history: heart disease (absent, present)
Descripción

Medical History:Heart disease

Tipo de datos

string

Medical history: hypertension (absent, present)
Descripción

Medical History:Hypertension

Tipo de datos

string

Medical history: memory loss (absent, present)
Descripción

Medical History:memory loss

Tipo de datos

string

Medical history: migraine (absent, present)
Descripción

Medical History:Migraine

Tipo de datos

string

Medical history: multiple sclerosis (absent, present)
Descripción

Medical History:Multiple sclerosis

Tipo de datos

string

Medical history: muscle disease (absent, present)
Descripción

Medical History:Muscle disease

Tipo de datos

string

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

Medical History:Obsessive Compulsive

Tipo de datos

text

Medical history: other
Descripción

Medical History:Other

Tipo de datos

string

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

Medical History:Parkinson's

Tipo de datos

string

Medical history: schizophrenia (absent, present)
Descripción

Medical History:Schizophrenia

Tipo de datos

string

Medical history: stroke (absent, present)
Descripción

Medical History:Stroke

Tipo de datos

string

Medical history: suicide attempt (absent, present)
Descripción

Medical History:Suicide/Attempt

Tipo de datos

string

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

Medical History:Tourettes

Tipo de datos

text

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

Optional data:Handedness

Tipo de datos

string

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

Optional data:MMSE (enter score and date)

Tipo de datos

string

Optional data: neurological examination (no, yes)
Descripción

Optional data:Neurological examination

Tipo de datos

string

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

Optional data:smoking history

Tipo de datos

string

Optional data: years smoking
Descripción

Optional data:years smoking

Tipo de datos

string

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

Type of Control:Type of Control

Tipo de datos

string

Similar models

Diagnostic interview of neurologically healthy subjects

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