ID

45907

Beschreibung

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

Stichworte

  1. 17.01.24 17.01.24 - Simon Heim
Rechteinhaber

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

Hochgeladen am

17. Januar 2024

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000901 University of Washington CSF biomarker study for Parkinson disease

Sample - Attribute Information

pht004675
Beschreibung

pht004675

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

SAMPLE_ID

Datentyp

string

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

BODY_SITE

Datentyp

string

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

ANALYTE_TYPE

Datentyp

string

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

IS_TUMOR

Datentyp

text

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

HISTOLOGICAL_TYPE

Datentyp

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
Beschreibung

SEQUENCING_CENTER

Datentyp

string

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

Ähnliche Modelle

Sample - Attribute Information

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
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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