NCBI Logo
GEO Logo
   NCBI > GEO > Accession DisplayHelp Not logged in | LoginHelp
GEO help: Mouse over screen elements for information.
          Go
Series GSE43553 Query DataSets for GSE43553
Status Public on Jan 16, 2013
Title Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.
Organism Homo sapiens
Experiment type Expression profiling by array
Summary To analyse gene expression patterns and to define a specific gene expression signature in patients with the severe end of the spectrum of cryopyrin-associated periodic syndromes (CAPS). The molecular consequences of interleukin 1 inhibition were examined by comparing gene expression patterns in 16 CAPS patients before and after treatment with anakinra.
Many DEG include transcripts related to the regulation of innate and adaptive immune responses, oxidative stress, cell death, cell adhesion and motility. A set of gene expression-based models comprising the CAPS-specific gene expression signature correctly classified all 17 samples from an independent dataset. This classifier also correctly identified 15 of 16 post-anakinra CAPS samples despite the fact that these CAPS patients were in clinical remission. We identified a gene expression signature that clearly distinguished CAPS patients from controls. A number of DEG were in common with other systemic inflammatory diseases such as systemic onset juvenile idiopathic arthritis. The CAPS-specific gene expression classifiers also suggest incomplete suppression of inflammation at low doses of anakinra.
 
Overall design We collected peripheral blood mononuclear cells from 23 CAPS patients with active disease and from 14 healthy children. Transcripts that passed stringent filtering criteria (p values ≤ false discovery rate 1%) were considered as differentially expressed genes (DEG). A set of DEG was validated by quantitative reverse transcription PCR and functional studies with primary cells from CAPS patients and healthy controls. We used 17 CAPS and 43 non-CAPS patient samples to create a set of gene expression models that differentiates CAPS patients from controls and from patients with other autoinflammatory conditions.
 
Contributor(s) Balow JE, Ryan JG, Chae JJ, Booty MG, Bulua A, Stone D, Sun H, Greene J, Barham B, Goldbach-Mansky R, Kastner DL, Aksentijevich I
Citation missing Has this study been published? Please login to update or notify GEO.
Submission date Jan 16, 2013
Last update date Dec 06, 2018
Contact name abdel elkahloun
E-mail(s) abdel@mail.nih.gov
Organization name nih
Street address 50 south dr
City bethesda
State/province MD
ZIP/Postal code 20892
Country USA
 
Platforms (1)
GPL571 [HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array
Samples (100)
GSM1065191 NLRP3 mutation carrier 08_12_05 Sample 1
GSM1065192 NLRP3 mutation carrier 08_12_05 Sample 2
GSM1065193 NLRP3 mutation carrier 08_12_05 Sample 3
Relations
BioProject PRJNA186687

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE43553_RAW.tar 197.8 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file
| NLM | NIH | GEO Help | Disclaimer | Accessibility |
NCBI Home NCBI Search NCBI SiteMap