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Title: NINDS Parkinson's Disease      
citations:
17052657
17116639
19915575
description:
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
Identifier:
phs000089.v3.p2
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000089.v3.p2
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Parkinson Disease
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA, Chang Gung Memorial Hospital, Taiwan, and University College London, UK
name:
Hong-Chung Fung
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Sonja Scholz
roles:
Principal Investigators
affiliations:
Instituto de Biomedicina de Valencia, Spain
name:
Simón-Sánchez
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Dena Hernandez
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Angela Britton
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Raphael Gibbs
roles:
Principal Investigators
affiliations:
Wake Forest University, Winston-Salem, NC, USA
name:
Carl Langefeld
roles:
Principal Investigators
affiliations:
Wake Forest University, Winston-Salem, NC, USA
name:
Matt L. Stiegert
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Jennifer Shymick
roles:
Principal Investigators
affiliations:
McKnight Brain Institute, Gainesville, FL, USA
name:
Michael S. Okun
roles:
Principal Investigators
affiliations:
McKnight Brain Institute, Gainesville, FL, USA
name:
Ronald J. Mandel
roles:
Principal Investigators
affiliations:
McKnight Brain Institute, Gainesville, FL, USA
name:
Hubert H. Fernandez
roles:
Principal Investigators
affiliations:
McKnight Brain Institute, Gainesville, FL, USA
name:
Kelly D. Foote
roles:
Principal Investigators
affiliations:
McKnight Brain Institute, Gainesville, FL, USA
name:
Ramón L. Rodríguez
roles:
Principal Investigators
affiliations:
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
name:
Elizabteh Peckham
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Fabienne Wavrant DeVrieze
roles:
Principal Investigators
affiliations:
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
name:
Katrina Gwinn-Hardy
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
John A. Hardy
roles:
Principal Investigators
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
Andy Singleton
roles:
Principal Investigators
affiliations:
Massachusetts General Hospital, Boston, MA, USA
name:
Robert Brown, Jr
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
Massachusetts General Hospital, Boston, MA, USA
name:
David Simon
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
Mayo Clinic, College of Medicine, Jacksonville, FL, USA
name:
Dennis Dickson
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
Mayo Clinic, College of Medicine, Jacksonville, FL, USA
name:
Matthew Farrer
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
University of Rochester, Rochester, NY, National Institute of Aging, National Institutes of Health, Bethesda, USA
name:
Emily Gorbold (POSTCEPT study)
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
University of Rochester, Rochester, NY, National Institute of Aging, National Institutes of Health, Bethesda, USA
name:
Ira Shoulson (POSTCEPT study)
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
name:
John A. Hardy
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
Johns Hopkins Hospital, Baltimore, MD, USA
name:
Laura Marsh
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
McKnight Brain Institute, Gainesville, FL, USA
name:
Michael Okun
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
The George Washington University, Washington, DC, USA
name:
Ted Roghstein
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
Mayo Clinic, College of Medicine, Jacksonville, FL, USA
name:
Zbigniew Wszolek
roles:
Investigators Submitting Samples to the NINDS Repository Included in this Study
affiliations:
Coriell, Camden, NJ, USA
name:
Fina Nash
roles:
NINDS Repository Resources were developed by:
affiliations:
Coriell, Camden, NJ, USA
name:
Rod Corriveau
roles:
NINDS Repository Resources were developed by:
affiliations:
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
name:
Katrina Gwinn-Hardy
roles:
NINDS Repository Resources were developed by:
performedBy:
TitleNameInstitute Principal InvestigatorsHong-Chung FungNational Institute of Aging, National Institutes of Health, Bethesda, MD, USA, Chang Gung Memorial Hospital, Taiwan, and University College London, UK Principal InvestigatorsSonja ScholzNational Institute of Aging, National Institutes of Health, Bethesda, MD, USA Principal InvestigatorsSimón-SánchezInstituto de Biomedicina de Valencia, Spain Principal InvestigatorsDena HernandezNational Institute of Aging, National Institutes of Health, Bethesda, MD, USA Principal InvestigatorsAngela BrittonNational Institute of Aging, National Institutes of Health, Bethesda, MD, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000089.v3.p2
Identifier:
phs000089.v3.p2_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use
alternateIdentifiers:
yes
selectionCriteria:

Cases: All cases were evaluated by a neurologist. Each participant underwent a detailed evaluation for Parkinson's disease, and met either the Gelb criteria or the UK Brain Bank Criteria (both below). All were white and from the USA, ranking in age of onset from 55 to 84 years. Disease onset was defined as the time when symptoms of the disease were first noted, including at least one of the following: resting tremor, rigidity bradykinesia, gait disorder, postural instability. Those with and without a family history of Parkinson's disease were included, but those who had three or more relatives with parkinsonism, or apparent Mendelian inheritance of neurodegenerative disease were excluded.

Controls: Blood samples were drawn from neurologically normal, unrelated, white individuals at many different sites in the USA. Each participant underwent a detailed medical history interview and had no family history on specific query of Alzheimer's disease, amyotrophic lateral sclerosis, ataxia, autism, bipolar disorder, brain aneurysm, dementia, dystonia, or Parkinson's disease. Folstein Mini-mental state examination scores ranged from 26-30. All participants were interviewed for family history in detail and specifically had no first degree relative with any of the following: amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia, Parkinson's disease, and schizophrenia. The mean age of participants at sample collection was 68 (range 55-88 years).

types:
Case-Control
dateReleased:
03-30-2010
version:
phs000089.v3.p2
dateModified:
04-06-2010
Identifier:
3
Name:
SNP Genotypic Association in Additive model
Identifier:
4
Name:
SNP Genotypic Association
Identifier:
2868
Name:
Genome-wide Association
abbreviation:
NINDS
name:
National Institute of Neurological Disorders and Stroke
ID:
0
name:
dbGaP