Dataset Information

MiRNA profiles in serum and CSF of Parkinson's and Alzheimer's patients

ABSTRACT:

We profiled the miRNA contents from cerebrospinal fluid and serum (using next generation sequencing) from postmortem patients diagnosed with Alzheimer's or Parkinson's disease, and neurologically normal controls. All biofluids were cell-free and patient matched, there was one cerebrospinal fluid and one serum sample from each of 70 patients with Alzheimer's disease, 67 patients with Parkinson's disease and 78 age-similar controls. We correlated the miRNA changes with measurements of neuropathology such as plaques, tangles and Lewy bodies.

PROVIDER: phs000727 | dbGaP |

SECONDARY ACCESSION(S): PRJNA241469PRJNA241468

REPOSITORIES: dbGaP

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Project description:Alzheimer disease is the most common neurodegenerative disorder of the elderly affecting an estimated five million Americans. Genetic factors contribute to the risk for disease with heritability estimates ranging from 57% to 79%. More than a decade ago, the ε4 variant of APOE was identified and remains the most consistently replicated genetic variant influencing the risk of late onset Alzheimer disease. A segregation analysis suggests there may be four additional genes influencing the age-at-onset of Alzheimer disease. In 2007 there were 968 association studies in 398 candidate genes reported, but none replicated consistently. There are many reasons for the lack of consistency, but one important reason for the lack of progress is the paucity of a sufficient number of well characterized families and patients available to the entire scientific community. The extensive effort and expense required to ascertain such a population has been addressed by the NIA-LOAD Family Study. Its goal is to identify and recruit families with two or more siblings with the late-onset form of Alzheimer's disease and a cohort of unrelated, non-demented controls similar in age and ethnic background, and to make the samples, the clinical and genotyping data and preliminary analyses available to qualified investigators world-wide. Genotyping by the Center for Inherited Disease Research (CIDR) was performed using the Illumina Infinium II assay protocol with hybridization to Illumina Human 610Quadv1_B Beadchips. This genotyping represents the largest collection of families ever assembled with Alzheimer's disease combining the NIA-LOAD Genetics Initiative Multiplex Family Study, the National Cell Repository for Alzheimer's Disease (NCRAD) with additional controls from the University of Kentucky. These genotyping results will serve as a focal point for future research that will identify all of the remaining genetic variants in Alzheimer's disease.

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>.

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MiRNA profiles in serum and CSF of Parkinson's and Alzheimer's patients

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