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Study Description

This sub-study phs000089 PD GWAS contains genotype and selected phenotype of subjects available from the phs001172 study. Summary level phenotypes for the NINDS Parkinson's Disease Cohort study participants can be viewed at the top-level study page phs001172 NINDS Parkinson's Disease Cohor. Individual level phenotype data and molecular data for all NINDS Parkinson's Disease Cohort top-level study and sub-studies are available by requesting Authorized Access to the NINDS Parkinson's Disease phs001172 study.

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.

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)

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

In order to be included in the Parkinson's disease collection, all cases are evaluated by a neurologist. Each participant is evaluated for Parkinson's disease, and meets either the Gelb criteria or the UK Brain Bank Criteria (both below). Disease onset is 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, and postural instability

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanHap250Sv1.0 241847 38544 Also referenced as HumanHap240Sv1.0
Whole Genome Genotyping Illumina HumanHap300v1.1 317503 33879
Whole Genome Genotyping Illumina HumanHap550v1.1 555352 38431
Whole Genome Genotyping Illumina HumanHap550v3.0 561466 51468
Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution
  • Principal Investigator
    • Dr. Andrew Singleton. National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.
  • Former Principal Investigator
    • Dr. John Hardy. National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.