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

To request one please log in.

License

Creative Commons BY 4.0

Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Itemgroup comments for :

Item comments for :

In order to download data models you must be logged in. Please log in or register for free.

44953_dbGaP phs000089 NINDS Parkinson's Disease

Subject ID, subject source, consent group, and affection status of subjects affected or not affected with Parkinson disease

pht000801.v2.p2
Description

pht000801.v2.p2

Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Consent group
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C1547872
Source repository where subjects originate (Coriell)
Description

SUBJ_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0080105
Subject ID used in the Source Repository
Description

SOURCE_SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C2348585
Affection Status (1=Control, 2=Case)
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject ID, subject source, consent group, and affection status of subjects affected or not affected with Parkinson disease

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht000801.v2.p2
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group
text
C1547872 (UMLS CUI [1,1])
Code List
Consent group
CL Item
General Research Use (1)
C1547872 (UMLS CUI [1,1])
SUBJ_SOURCE
Item
Source repository where subjects originate (Coriell)
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0080105 (UMLS CUI [1,3])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C2348585 (UMLS CUI [1,3])
Item
Affection Status (1=Control, 2=Case)
text
C3274646 (UMLS CUI [1,1])
Code List
Affection Status (1=Control, 2=Case)
CL Item
Control (1)
C0009932 (UMLS CUI [1,1])
CL Item
Case (2)
C1706256 (UMLS CUI [1,1])

Please use this form for feedback, questions and suggestions for improvements.

Fields marked with * are required.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial