ID

44973

Descrição

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

Palavras-chave

  1. 13/05/2022 13/05/2022 - Martin Dugas
  2. 03/06/2022 03/06/2022 - Dr. Christian Niklas
Titular dos direitos

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

Transferido a

3 de junho de 2022

DOI

Para um pedido faça login.

Licença

Creative Commons BY 4.0

Comentários do modelo :

Aqui pode comentar o modelo. Pode comentá-lo especificamente através dos balões de texto nos grupos de itens e itens.

Comentários do grupo de itens para :

Comentários do item para :

Para descarregar formulários, precisa de ter uma sessão iniciada. Por favor faça login ou registe-se gratuitamente.

44953_dbGaP phs000089 NINDS Parkinson's Disease

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

pht000802.v2.p2
Descrição

pht000802.v2.p2

Subject ID
Descrição

SUBJID

Tipo de dados

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]
Descrição

SAMPID

Tipo de dados

string

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

SAMP_SOURCE

Tipo de dados

text

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

SOURCE_SAMPID

Tipo de dados

text

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

Similar models

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

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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])

Use este formulário para feedback, perguntas e sugestões de aperfeiçoamento.

Campos marcados com * são obrigatórios.

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