0 Ratings

ID

45907

Description

Principal Investigator: Mohammad Faghihi, MD, PhD, University of Miami, Miami, FL, USA MeSH: Parkinson Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000901 There is a clear need to develop biomarkers for Parkinson disease (PD) diagnosis and monitoring disease progression. In this study we evaluated cerebrospinal fluid (CSF) proteins, which are known to be critically involved in PD or identified in our preliminary profiling studies, aptamers, and RNAs as potential PD biomarkers. Access to subjects for this study was via the Pacific Northwest Udall Center (PANUC) and the Alzheimer's Disease Research Center (ADRC) at the University of Washington and Oregon Health and Sciences University (OHSU). Using CSF samples from 30 well-characterized patients with PD and 30 age-, sex-matched healthy controls, we prepared RNA seq libraries and performed deep sequencing of all RNA species, including small and long RNA, mRNAs, noncoding RNAs and differentially spliced transcripts. We then tried several methods for RNAseq data analysis to optimize our analysis pipeline. We identified a total of 3381 transcripts corresponding to 182 long intergenic RNAs (LincRNAs), 11 microRNAs (miRNAs), 2861 protein-coding transcripts, 200 pseudogenes and 127 antisense RNAs; some of them were differentially expressed between PD and control groups. Selected differentially expressed RNAs have been validated in the same set of CSF samples using real-time PCR (RT-PCR). Further validations in independent, larger cohorts of samples are still ongoing. Our results obtained so far suggested that CSF proteins and RNAs could be used as good indexes for PD diagnosis and disease severity/progression. This study is a part of the NIDDS-funded Parkinson's Disease Biomarkers Program (PDBP).

Link

dbGaP study = phs000901

Keywords

  1. 1/17/24 1/17/24 - Simon Heim
Copyright Holder

Mohammad Faghihi, MD, PhD, University of Miami, Miami, FL, USA

Uploaded on

January 17, 2024

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000901 University of Washington CSF biomarker study for Parkinson disease

    Sample - Attribute Information

    pht004675
    Description

    pht004675

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified Sample ID
    Description

    SAMPLE_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C1299222
    Body site where sample was collected
    Description

    BODY_SITE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449705
    Analyte Type
    Description

    ANALYTE_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4744818
    Tumor status
    Description

    IS_TUMOR

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0475752
    Cell or tissue type or subtype of sample
    Description

    HISTOLOGICAL_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C0007634
    UMLS CUI [1,3]
    C0332307
    UMLS CUI [2,1]
    C2347026
    UMLS CUI [2,2]
    C0007634
    UMLS CUI [2,3]
    C0449560
    UMLS CUI [3,1]
    C1292533
    UMLS CUI [3,2]
    C0332307
    UMLS CUI [4,1]
    C1292533
    UMLS CUI [4,2]
    C0449560
    Name of the center which conducted sequencing
    Description

    SEQUENCING_CENTER

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1301943
    UMLS CUI [1,2]
    C5575037
    UMLS CUI [1,3]
    C1294197

    Similar models

    Sample - Attribute Information

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht004675
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    De-identified Sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte Type
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not a tumor (N)
    C0027651 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Unknown (U)
    C0439673 (UMLS CUI [1,1])
    CL Item
    Is Tumor (Y)
    C0027651 (UMLS CUI [1,1])
    HISTOLOGICAL_TYPE
    Item
    Cell or tissue type or subtype of sample
    string
    C2347026 (UMLS CUI [1,1])
    C0007634 (UMLS CUI [1,2])
    C0332307 (UMLS CUI [1,3])
    C2347026 (UMLS CUI [2,1])
    C0007634 (UMLS CUI [2,2])
    C0449560 (UMLS CUI [2,3])
    C1292533 (UMLS CUI [3,1])
    C0332307 (UMLS CUI [3,2])
    C1292533 (UMLS CUI [4,1])
    C0449560 (UMLS CUI [4,2])
    SEQUENCING_CENTER
    Item
    Name of the center which conducted sequencing
    string
    C1301943 (UMLS CUI [1,1])
    C5575037 (UMLS CUI [1,2])
    C1294197 (UMLS CUI [1,3])

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