ID

44973

Beschreibung

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

Stichworte

  1. 13.05.22 13.05.22 - Martin Dugas
  2. 03.06.22 03.06.22 - Dr. Christian Niklas
Rechteinhaber

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

Hochgeladen am

3. Juni 2022

DOI

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Lizenz

Creative Commons BY 4.0

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44953_dbGaP phs000089 NINDS Parkinson's Disease

Sample ID and subject ID of subjects affected or not affected with Parkinson disease

pht000802.v2.p2
Beschreibung

pht000802.v2.p2

Subject ID
Beschreibung

SUBJID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID(s) [equivalent to subject ID(s), and might include ID(s) of HumanHap250s, HumanHap300, and HumanHap550v3]
Beschreibung

SAMPID

Datentyp

string

Alias
UMLS CUI [1,1]
C5237951
Source repository where samples originate
Beschreibung

SAMP_SOURCE

Datentyp

text

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0370003
Sample ID used in the Source Repository
Beschreibung

SOURCE_SAMPID

Datentyp

text

Alias
UMLS CUI [1,1]
C5237951
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505

Ähnliche Modelle

Sample ID and subject ID of subjects affected or not affected with Parkinson disease

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht000802.v2.p2
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID(s) [equivalent to subject ID(s), and might include ID(s) of HumanHap250s, HumanHap300, and HumanHap550v3]
string
C5237951 (UMLS CUI [1,1])
SAMP_SOURCE
Item
Source repository where samples originate
text
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
SOURCE_SAMPID
Item
Sample ID used in the Source Repository
text
C5237951 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])

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