ID

44973

Description

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

Keywords

  1. 5/13/22 5/13/22 - Martin Dugas
  2. 6/3/22 6/3/22 - Dr. Christian Niklas
Copyright Holder

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

Uploaded on

June 3, 2022

DOI

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License

Creative Commons BY 4.0

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44953_dbGaP phs000089 NINDS Parkinson's Disease

Diagnostic interview of neurologically healthy subjects

pht000177.v3.p2
Description

pht000177.v3.p2

De-identified subject ID number assigned by NINDS Repository
Description

Catalog_ID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
Indicates whether DNA of this subject is included in any panels available through the NINDS Repository catalog
Description

In_Panel

Data type

text

Alias
UMLS CUI [1,1]
C0012854
UMLS CUI [1,2]
C0470187
UMLS CUI [1,3]
C3847505
Age of subject
Description

Age

Data type

text

Alias
UMLS CUI [1,1]
C0001779
Gender of subject
Description

Gender

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Race of subject (Caucasian)
Description

Race

Data type

string

Alias
UMLS CUI [1,1]
C0034510
Subject's ethnicity (Not Hispanic/Latino, Hispanic/Latino)
Description

Ethnicity

Data type

string

Alias
UMLS CUI [1,1]
C0015031
Source of clinical data (neurologist, other physician-non-neurologist , clinical research assistant/nurse)
Description

Clinical_Data_Source

Data type

string

Alias
UMLS CUI [1,1]
C1516606
UMLS CUI [1,2]
C0449416
Type of clinician [does not apply (population or family-based control)]
Description

Clinician_Type

Data type

string

Alias
UMLS CUI [1,1]
C0871685
UMLS CUI [1,2]
C0332307
Country of subject's origin (USA, UNITED KINGDOM, U.A.E., SOUTH AFRICA, ITALY, FRANCE, CANADA)
Description

Country_Origin

Data type

string

Alias
UMLS CUI [1,1]
C0079946
Data collected by:This data was collected by "Neurologist," "Other physician-non-Neurologist," or "clinical research assistant/nurse."
Description

Data collected by:This data was collected by

Data type

text

Alias
UMLS CUI [1,1]
C1511726
UMLS CUI [1,2]
C1516695
Family history: amyotrophic lateral sclerosis
Description

Family History:Amyotrophic lateral sclerosis

Data type

string

Alias
UMLS CUI [1,1]
C2315658
Family history: ataxia
Description

Family History:Ataxia

Data type

string

Alias
UMLS CUI [1,1]
C4551294
Family history: autism (absent)
Description

Family History:Autism

Data type

string

Alias
UMLS CUI [1,1]
C1445919
Family history: bipolar (manic-depressive disorder)
Description

Family History:Bipolar (manic-depressive)

Data type

string

Alias
UMLS CUI [1,1]
C0455384
Family history: brain aneurysm
Description

Family History:Brain aneurysm

Data type

string

Alias
UMLS CUI [1,1]
C4041047
Family history: cancer
Description

Family History:Cancer

Data type

string

Alias
UMLS CUI [1,1]
C0260515
Family history: dementia
Description

Family History:Dementia

Data type

string

Alias
UMLS CUI [1,1]
C2315857
Family history: depression
Description

Family History:Depression

Data type

string

Alias
UMLS CUI [1,1]
C0455383
Family history: diabetes
Description

Family History:Diabetes

Data type

string

Alias
UMLS CUI [1,1]
C1313937
Family history: dystonia
Description

Family History:Dystonia

Data type

string

Alias
UMLS CUI [1,1]
C0241889
UMLS CUI [1,2]
C0013421
Family history: epilepsy
Description

Family History:Epilepsy

Data type

string

Alias
UMLS CUI [1,1]
C0455392
Family history: heart disease
Description

Family History:Heart disease

Data type

string

Alias
UMLS CUI [1,1]
C2186266
Family history: hypertension
Description

Family History:Hypertension

Data type

string

Alias
UMLS CUI [1,1]
C0455405
Family history: memory loss
Description

Family History:memory loss

Data type

string

Alias
UMLS CUI [1,1]
C0241889
UMLS CUI [1,2]
C0751295
Family history: migraine
Description

Family History:Migraine

Data type

string

Alias
UMLS CUI [1,1]
C0455393
Family history: multiple sclerosis
Description

Family History:Multiple sclerosis

Data type

string

Alias
UMLS CUI [1,1]
C0455388
Family history: muscle disease
Description

Family History:Muscle disease

Data type

string

Alias
UMLS CUI [1,1]
C4551280
Family history: obsessive compulsive
Description

Family History:Obsessive Compulsive

Data type

string

Alias
UMLS CUI [1,1]
C4551299
Family history: other
Description

Family History:Other

Data type

string

Alias
UMLS CUI [1,1]
C0241889
UMLS CUI [1,2]
C0205394
Family history: Parkinson's
Description

Family History:Parkinson's

Data type

string

Alias
UMLS CUI [1,1]
C0574092
Family history: schizophrenia
Description

Family History:Schizophrenia

Data type

string

Alias
UMLS CUI [1,1]
C0455382
Family history: stroke
Description

Family History:Stroke

Data type

string

Alias
UMLS CUI [1,1]
C1261367
Family history: suicide attempt
Description

Family History:Suicide/Attempt

Data type

string

Alias
UMLS CUI [1,1]
C0241889
UMLS CUI [1,2]
C0038663
Family history: tourettes
Description

Family History:Tourettes

Data type

string

Alias
UMLS CUI [1,1]
C4551305
Longitudinal data: is this data longitudinal (follow-up) data? (no)
Description

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

Data type

string

Alias
UMLS CUI [1,1]
C1511726
UMLS CUI [1,2]
C1522577
Medical history: amyotrophic lateral sclerosis (absent, present)
Description

Medical History:Amyotrophic lateral sclerosis

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0002736
Medical history: ataxia (absent, present)
Description

Medical History:Ataxia

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0004134
Medical history: autism (absent, present)
Description

Medical History:Autism

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0004352
Medical history: bipolar (manic-depressive disorder) (absent, present)
Description

Medical History:Bipolar (manic-depressive)

Data type

string

Alias
UMLS CUI [1,1]
C1276009
Medical history: brain aneurysm (absent, present)
Description

Medical History:Brain aneurysm

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0751003
Medical history: cancer (absent, present)
Description

Medical History:Cancer

Data type

string

Alias
UMLS CUI [1,1]
C0455471
Medical history: dementia (absent, present)
Description

Medical History:Dementia

Data type

string

Alias
UMLS CUI [1,1]
C0455499
Medical history: depression (absent, present)
Description

Medical History:Depression

Data type

string

Alias
UMLS CUI [1,1]
C0455503
Medical history: diabetes (absent, present)
Description

Medical History:Diabetes

Data type

string

Alias
UMLS CUI [1,1]
C0455488
Medical history: dystonia (absent, present)
Description

Medical History:Dystonia

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0013421
Medical history: epilepsy (absent, present)
Description

Medical History:Epilepsy

Data type

string

Alias
UMLS CUI [1,1]
C0455511
Medical history: heart disease (absent, present)
Description

Medical History:Heart disease

Data type

string

Alias
UMLS CUI [1,1]
C0559157
Medical history: hypertension (absent, present)
Description

Medical History:Hypertension

Data type

string

Alias
UMLS CUI [1,1]
C0455527
Medical history: memory loss (absent, present)
Description

Medical History:memory loss

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0751295
Medical history: migraine (absent, present)
Description

Medical History:Migraine

Data type

string

Alias
UMLS CUI [1,1]
C0455512
Medical history: multiple sclerosis (absent, present)
Description

Medical History:Multiple sclerosis

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0026769
Medical history: muscle disease (absent, present)
Description

Medical History:Muscle disease

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0026848
The presence or absence of obsessive compulsive disorder in the subjects themselves as determined by clinician's interview.
Description

Medical History:Obsessive Compulsive

Data type

text

Alias
UMLS CUI [1,1]
C0028768
UMLS CUI [1,2]
C0521095
UMLS CUI [1,3]
C0021822
UMLS CUI [1,4]
C0871685
Medical history: other
Description

Medical History:Other

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0205394
Medical history: Parkinson's (absent, present)
Description

Medical History:Parkinson's

Data type

string

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0030567
Medical history: schizophrenia (absent, present)
Description

Medical History:Schizophrenia

Data type

string

Alias
UMLS CUI [1,1]
C0455502
Medical history: stroke (absent, present)
Description

Medical History:Stroke

Data type

string

Alias
UMLS CUI [1,1]
C0559159
Medical history: suicide attempt (absent, present)
Description

Medical History:Suicide/Attempt

Data type

string

Alias
UMLS CUI [1,1]
C0455507
The presence or absence of Tourette's syndrome in the subjects themselves as determined by clinician's interview.
Description

Medical History:Tourettes

Data type

text

Alias
UMLS CUI [1,1]
C0040517
UMLS CUI [1,2]
C0521095
UMLS CUI [1,3]
C0021822
UMLS CUI [1,4]
C0871685
Optional data: handedness (right, left, ambidextrous)
Description

Optional data:Handedness

Data type

string

Alias
UMLS CUI [1,1]
C0023114
Optional data: the mini-mental state examination (MMSE) (enter score and date)
Description

Optional data:MMSE (enter score and date)

Data type

string

Alias
UMLS CUI [1,1]
C0451306
UMLS CUI [1,2]
C0011008
UMLS CUI [2,1]
C2960235
Optional data: neurological examination (no, yes)
Description

Optional data:Neurological examination

Data type

string

Alias
UMLS CUI [1,1]
C0027853
Optional data: smoking history (never, former smoker, current smoker)
Description

Optional data:smoking history

Data type

string

Alias
UMLS CUI [1,1]
C1519384
Optional data: years smoking
Description

Optional data:years smoking

Data type

string

Alias
UMLS CUI [1,1]
C0037369
UMLS CUI [1,2]
C0439234
Type of control: type of control (population control, related to an affected individual, unaffected spouse)
Description

Type of Control:Type of Control

Data type

string

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C0332307

Similar models

Diagnostic interview of neurologically healthy subjects

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht000177.v3.p2
Catalog_ID
Item
De-identified subject ID number assigned by NINDS Repository
text
C2348585 (UMLS CUI [1,1])
Item
Indicates whether DNA of this subject is included in any panels available through the NINDS Repository catalog
text
C0012854 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
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
C0001779 (UMLS CUI [1,1])
Item
Gender of subject
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of subject
CL Item
Female (F)
CL Item
Male (M)
Race
Item
Race of subject (Caucasian)
string
C0034510 (UMLS CUI [1,1])
Ethnicity
Item
Subject's ethnicity (Not Hispanic/Latino, Hispanic/Latino)
string
C0015031 (UMLS CUI [1,1])
Clinical_Data_Source
Item
Source of clinical data (neurologist, other physician-non-neurologist , clinical research assistant/nurse)
string
C1516606 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
Clinician_Type
Item
Type of clinician [does not apply (population or family-based control)]
string
C0871685 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
Country_Origin
Item
Country of subject's origin (USA, UNITED KINGDOM, U.A.E., SOUTH AFRICA, ITALY, FRANCE, CANADA)
string
C0079946 (UMLS CUI [1,1])
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
C1511726 (UMLS CUI [1,1])
C1516695 (UMLS CUI [1,2])
Family History:Amyotrophic lateral sclerosis
Item
Family history: amyotrophic lateral sclerosis
string
C2315658 (UMLS CUI [1,1])
Family History:Ataxia
Item
Family history: ataxia
string
C4551294 (UMLS CUI [1,1])
Family History:Autism
Item
Family history: autism (absent)
string
C1445919 (UMLS CUI [1,1])
Family History:Bipolar (manic-depressive)
Item
Family history: bipolar (manic-depressive disorder)
string
C0455384 (UMLS CUI [1,1])
Family History:Brain aneurysm
Item
Family history: brain aneurysm
string
C4041047 (UMLS CUI [1,1])
Family History:Cancer
Item
Family history: cancer
string
C0260515 (UMLS CUI [1,1])
Family History:Dementia
Item
Family history: dementia
string
C2315857 (UMLS CUI [1,1])
Family History:Depression
Item
Family history: depression
string
C0455383 (UMLS CUI [1,1])
Family History:Diabetes
Item
Family history: diabetes
string
C1313937 (UMLS CUI [1,1])
Family History:Dystonia
Item
Family history: dystonia
string
C0241889 (UMLS CUI [1,1])
C0013421 (UMLS CUI [1,2])
Family History:Epilepsy
Item
Family history: epilepsy
string
C0455392 (UMLS CUI [1,1])
Family History:Heart disease
Item
Family history: heart disease
string
C2186266 (UMLS CUI [1,1])
Family History:Hypertension
Item
Family history: hypertension
string
C0455405 (UMLS CUI [1,1])
Family History:memory loss
Item
Family history: memory loss
string
C0241889 (UMLS CUI [1,1])
C0751295 (UMLS CUI [1,2])
Family History:Migraine
Item
Family history: migraine
string
C0455393 (UMLS CUI [1,1])
Family History:Multiple sclerosis
Item
Family history: multiple sclerosis
string
C0455388 (UMLS CUI [1,1])
Family History:Muscle disease
Item
Family history: muscle disease
string
C4551280 (UMLS CUI [1,1])
Family History:Obsessive Compulsive
Item
Family history: obsessive compulsive
string
C4551299 (UMLS CUI [1,1])
Family History:Other
Item
Family history: other
string
C0241889 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
Family History:Parkinson's
Item
Family history: Parkinson's
string
C0574092 (UMLS CUI [1,1])
Family History:Schizophrenia
Item
Family history: schizophrenia
string
C0455382 (UMLS CUI [1,1])
Family History:Stroke
Item
Family history: stroke
string
C1261367 (UMLS CUI [1,1])
Family History:Suicide/Attempt
Item
Family history: suicide attempt
string
C0241889 (UMLS CUI [1,1])
C0038663 (UMLS CUI [1,2])
Family History:Tourettes
Item
Family history: tourettes
string
C4551305 (UMLS CUI [1,1])
Longitudinal Data:Is this data Longitudinal (Follow-Up) Data?
Item
Longitudinal data: is this data longitudinal (follow-up) data? (no)
string
C1511726 (UMLS CUI [1,1])
C1522577 (UMLS CUI [1,2])
Medical History:Amyotrophic lateral sclerosis
Item
Medical history: amyotrophic lateral sclerosis (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0002736 (UMLS CUI [1,2])
Medical History:Ataxia
Item
Medical history: ataxia (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0004134 (UMLS CUI [1,2])
Medical History:Autism
Item
Medical history: autism (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0004352 (UMLS CUI [1,2])
Medical History:Bipolar (manic-depressive)
Item
Medical history: bipolar (manic-depressive disorder) (absent, present)
string
C1276009 (UMLS CUI [1,1])
Medical History:Brain aneurysm
Item
Medical history: brain aneurysm (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0751003 (UMLS CUI [1,2])
Medical History:Cancer
Item
Medical history: cancer (absent, present)
string
C0455471 (UMLS CUI [1,1])
Medical History:Dementia
Item
Medical history: dementia (absent, present)
string
C0455499 (UMLS CUI [1,1])
Medical History:Depression
Item
Medical history: depression (absent, present)
string
C0455503 (UMLS CUI [1,1])
Medical History:Diabetes
Item
Medical history: diabetes (absent, present)
string
C0455488 (UMLS CUI [1,1])
Medical History:Dystonia
Item
Medical history: dystonia (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0013421 (UMLS CUI [1,2])
Medical History:Epilepsy
Item
Medical history: epilepsy (absent, present)
string
C0455511 (UMLS CUI [1,1])
Medical History:Heart disease
Item
Medical history: heart disease (absent, present)
string
C0559157 (UMLS CUI [1,1])
Medical History:Hypertension
Item
Medical history: hypertension (absent, present)
string
C0455527 (UMLS CUI [1,1])
Medical History:memory loss
Item
Medical history: memory loss (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0751295 (UMLS CUI [1,2])
Medical History:Migraine
Item
Medical history: migraine (absent, present)
string
C0455512 (UMLS CUI [1,1])
Medical History:Multiple sclerosis
Item
Medical history: multiple sclerosis (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0026769 (UMLS CUI [1,2])
Medical History:Muscle disease
Item
Medical history: muscle disease (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0026848 (UMLS CUI [1,2])
Medical History:Obsessive Compulsive
Item
The presence or absence of obsessive compulsive disorder in the subjects themselves as determined by clinician's interview.
text
C0028768 (UMLS CUI [1,1])
C0521095 (UMLS CUI [1,2])
C0021822 (UMLS CUI [1,3])
C0871685 (UMLS CUI [1,4])
Medical History:Other
Item
Medical history: other
string
C0262926 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
Medical History:Parkinson's
Item
Medical history: Parkinson's (absent, present)
string
C0262926 (UMLS CUI [1,1])
C0030567 (UMLS CUI [1,2])
Medical History:Schizophrenia
Item
Medical history: schizophrenia (absent, present)
string
C0455502 (UMLS CUI [1,1])
Medical History:Stroke
Item
Medical history: stroke (absent, present)
string
C0559159 (UMLS CUI [1,1])
Medical History:Suicide/Attempt
Item
Medical history: suicide attempt (absent, present)
string
C0455507 (UMLS CUI [1,1])
Medical History:Tourettes
Item
The presence or absence of Tourette's syndrome in the subjects themselves as determined by clinician's interview.
text
C0040517 (UMLS CUI [1,1])
C0521095 (UMLS CUI [1,2])
C0021822 (UMLS CUI [1,3])
C0871685 (UMLS CUI [1,4])
Optional data:Handedness
Item
Optional data: handedness (right, left, ambidextrous)
string
C0023114 (UMLS CUI [1,1])
Optional data:MMSE (enter score and date)
Item
Optional data: the mini-mental state examination (MMSE) (enter score and date)
string
C0451306 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C2960235 (UMLS CUI [2,1])
Optional data:Neurological examination
Item
Optional data: neurological examination (no, yes)
string
C0027853 (UMLS CUI [1,1])
Optional data:smoking history
Item
Optional data: smoking history (never, former smoker, current smoker)
string
C1519384 (UMLS CUI [1,1])
Optional data:years smoking
Item
Optional data: years smoking
string
C0037369 (UMLS CUI [1,1])
C0439234 (UMLS CUI [1,2])
Type of Control:Type of Control
Item
Type of control: type of control (population control, related to an affected individual, unaffected spouse)
string
C0009932 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])

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