ID

44953

Beskrivning

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

Länk

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

Nyckelord

  1. 2022-05-13 2022-05-13 - Martin Dugas
  2. 2022-06-03 2022-06-03 - Dr. Christian Niklas
Rättsinnehavare

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

Uppladdad den

13 maj 2022

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000089 NINDS Parkinson's Disease

Diagnostic interview of neurologically healthy subjects

pht000177.v3.p2
Beskrivning

pht000177.v3.p2

De-identified subject ID number assigned by NINDS Repository
Beskrivning

Catalog_ID

Datatyp

text

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

In_Panel

Datatyp

text

Age of subject
Beskrivning

Age

Datatyp

text

Gender of subject
Beskrivning

Gender

Datatyp

text

Race of subject (Caucasian)
Beskrivning

Race

Datatyp

string

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

Ethnicity

Datatyp

string

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

Clinical_Data_Source

Datatyp

string

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

Clinician_Type

Datatyp

string

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

Country_Origin

Datatyp

string

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

Data collected by:This data was collected by

Datatyp

text

Family history: amyotrophic lateral sclerosis
Beskrivning

Family History:Amyotrophic lateral sclerosis

Datatyp

string

Family history: ataxia
Beskrivning

Family History:Ataxia

Datatyp

string

Family history: autism (absent)
Beskrivning

Family History:Autism

Datatyp

string

Family history: bipolar (manic-depressive disorder)
Beskrivning

Family History:Bipolar (manic-depressive)

Datatyp

string

Family history: brain aneurysm
Beskrivning

Family History:Brain aneurysm

Datatyp

string

Family history: cancer
Beskrivning

Family History:Cancer

Datatyp

string

Family history: dementia
Beskrivning

Family History:Dementia

Datatyp

string

Family history: depression
Beskrivning

Family History:Depression

Datatyp

string

Family history: diabetes
Beskrivning

Family History:Diabetes

Datatyp

string

Family history: dystonia
Beskrivning

Family History:Dystonia

Datatyp

string

Family history: epilepsy
Beskrivning

Family History:Epilepsy

Datatyp

string

Family history: heart disease
Beskrivning

Family History:Heart disease

Datatyp

string

Family history: hypertension
Beskrivning

Family History:Hypertension

Datatyp

string

Family history: memory loss
Beskrivning

Family History:memory loss

Datatyp

string

Family history: migraine
Beskrivning

Family History:Migraine

Datatyp

string

Family history: multiple sclerosis
Beskrivning

Family History:Multiple sclerosis

Datatyp

string

Family history: muscle disease
Beskrivning

Family History:Muscle disease

Datatyp

string

Family history: obsessive compulsive
Beskrivning

Family History:Obsessive Compulsive

Datatyp

string

Family history: other
Beskrivning

Family History:Other

Datatyp

string

Family history: Parkinson's
Beskrivning

Family History:Parkinson's

Datatyp

string

Family history: schizophrenia
Beskrivning

Family History:Schizophrenia

Datatyp

string

Family history: stroke
Beskrivning

Family History:Stroke

Datatyp

string

Family history: suicide attempt
Beskrivning

Family History:Suicide/Attempt

Datatyp

string

Family history: tourettes
Beskrivning

Family History:Tourettes

Datatyp

string

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

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

Datatyp

string

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

Medical History:Amyotrophic lateral sclerosis

Datatyp

string

Medical history: ataxia (absent, present)
Beskrivning

Medical History:Ataxia

Datatyp

string

Medical history: autism (absent, present)
Beskrivning

Medical History:Autism

Datatyp

string

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

Medical History:Bipolar (manic-depressive)

Datatyp

string

Medical history: brain aneurysm (absent, present)
Beskrivning

Medical History:Brain aneurysm

Datatyp

string

Medical history: cancer (absent, present)
Beskrivning

Medical History:Cancer

Datatyp

string

Medical history: dementia (absent, present)
Beskrivning

Medical History:Dementia

Datatyp

string

Medical history: depression (absent, present)
Beskrivning

Medical History:Depression

Datatyp

string

Medical history: diabetes (absent, present)
Beskrivning

Medical History:Diabetes

Datatyp

string

Medical history: dystonia (absent, present)
Beskrivning

Medical History:Dystonia

Datatyp

string

Medical history: epilepsy (absent, present)
Beskrivning

Medical History:Epilepsy

Datatyp

string

Medical history: heart disease (absent, present)
Beskrivning

Medical History:Heart disease

Datatyp

string

Medical history: hypertension (absent, present)
Beskrivning

Medical History:Hypertension

Datatyp

string

Medical history: memory loss (absent, present)
Beskrivning

Medical History:memory loss

Datatyp

string

Medical history: migraine (absent, present)
Beskrivning

Medical History:Migraine

Datatyp

string

Medical history: multiple sclerosis (absent, present)
Beskrivning

Medical History:Multiple sclerosis

Datatyp

string

Medical history: muscle disease (absent, present)
Beskrivning

Medical History:Muscle disease

Datatyp

string

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

Medical History:Obsessive Compulsive

Datatyp

text

Medical history: other
Beskrivning

Medical History:Other

Datatyp

string

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

Medical History:Parkinson's

Datatyp

string

Medical history: schizophrenia (absent, present)
Beskrivning

Medical History:Schizophrenia

Datatyp

string

Medical history: stroke (absent, present)
Beskrivning

Medical History:Stroke

Datatyp

string

Medical history: suicide attempt (absent, present)
Beskrivning

Medical History:Suicide/Attempt

Datatyp

string

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

Medical History:Tourettes

Datatyp

text

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

Optional data:Handedness

Datatyp

string

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

Optional data:MMSE (enter score and date)

Datatyp

string

Optional data: neurological examination (no, yes)
Beskrivning

Optional data:Neurological examination

Datatyp

string

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

Optional data:smoking history

Datatyp

string

Optional data: years smoking
Beskrivning

Optional data:years smoking

Datatyp

string

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

Type of Control:Type of Control

Datatyp

string

Similar models

Diagnostic interview of neurologically healthy subjects

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
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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