Dataset Information

National Institute of Neurological Disorders and Stroke (NINDS) Repository Parkinson's Disease Collection

ABSTRACT:

The NINDS repository was established in October 2001 with the goal of developing standardized, broadly useful diagnostic and other clinical data, as well as a collection of DNA and cell line samples to further advance gene discovery of neurological disorders. All samples and both phenotypic and genotypic data are available to the research community including academic and industry scientists. This collection includes thousands of samples and associated phenotypic data sets from individuals with Parkinsonism, including Parkinson's disease (PD).

Epidemiological studies have shown an estimated 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.

A subset of subjects from the collection of North American Caucasians with Parkinson's disease was utilized in the NINDS Parkinson's Disease study.

PROVIDER: phs000003.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.

Simon-Sanchez Javier J Scholz Sonja S Fung Hon-Chung HC Matarin Mar M Hernandez Dena D Gibbs J Raphael JR Britton Angela A de Vrieze Fabienne Wavrant FW Peckham Elizabeth E Gwinn-Hardy Katrina K Crawley Anthony A Keen Judith C JC Nash Josefina J Borgaonkar Digamber D Hardy John J Singleton Andrew A

Human molecular genetics 20061120 1

The recent hapmap effort has placed focus on the application of genome-wide SNP analysis to assess the contribution of genetic variability, particularly SNPs, to traits such as disease. Here, we describe the utility of genome-wide SNP analysis in the direct detection of extended homozygosity and structural genomic variation. We use this approach to assess the frequency of genomic alterations resulting from the lymphoblast immortalization and culture processes commonly used in cell repositories. ...[more]

PMID: 17116639

Publication: 1/2

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Project 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 <a href="./study.cgi?id=phs000003">collection of North American Caucasians with Parkinson's disease</a>, and <a href="./study.cgi?id=phs000004">neurologically normal controls</a> 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 <ol> <li><a href="http://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?view_pdf&stacc=phs000089.v3.p2" target="_blank">Data Use Certification Requirements (DUC)</a></li> <li><a href="http://view.ncbi.nlm.nih.gov/dbgap-controlled" target="_blank">Apply here for controlled access to individual level data</a></li> <li><a href="GetPdf.cgi?id=phd000577" target="_blank">Participant Protection Policy FAQ</a></li> </ol>

Project description:The NINDS repository <a href="http://ccr.coriell.org/ninds">(http://ccr.coriell.org/ninds/)</a> was established in October 2001 with the goal of developing standardized, broadly useful diagnostic and other clinical data, as well as a collection of DNA and cell line samples to further advance gene discovery of neurological disorders. All samples and both phenotypic and genotypic data are available to the research community including academic and industry scientists. A set of samples from individuals who do not have neurological disease was felt to be essential to allow gene discovery in neurological disorders to proceed. Towards this goal, the NINDS has and is collecting samples and phenotypic data on neurologically normal individuals. The data being collected includes demographic, ethnic, and exclusion of neurological disease information. Variables were measured using the <a href="javascript:getPage('document.cgi', 43);">Control Clinical Data Elements form</a>. As of June 2007, there are a total of 2157 publicly available and an additional >2000 which will be added to the publicly available biomaterials collection shortly. Blood samples were drawn from neurologically normal, unrelated, individuals at many different sites. Spouses, convenience controls, and population controls were all included in this collection. 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 and are available on a subset of individuals. 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. A subset of neurologically normal control subjects was utilized in <a href="./study.cgi?id=phs000089">NINDS Parkinson's Disease</a>, <a href="./study.cgi?id=phs000101">NINDS Amyotrophic Lateral Sclerosis and Controls</a> and <a href="./study.cgi?id=phs000102">NINDS Ischemic Stroke Genetics Study (ISGS)</a>.

Dataset Information

National Institute of Neurological Disorders and Stroke (NINDS) Repository Parkinson's Disease Collection

Publications

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.

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