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Detailed genotype-phenotype analysis of AOSD cohorts

GSE244372 Homo sapiens (human) RNA-seq (gene expression) 37 samples Submitted 2025/05/07 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 37 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Samples
37 samples: 27 × Blood, AOSD, StillGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's DiseaseArthritis & rheumatology (Hoboken, N.J.) · 2025
Summary (written by the submitters)
Adult-onset Still’s disease (AOSD) is systemic autoinflammatory disorder of unknown aetiology. Various genetic and environmental factors have been implicated in its pathogenies, but the genetic studies so far have been limited to few selected genes of interest. We conducted detailed genetic analysis of a large cohort of patients with AOSD, using deep whole exome sequencing to identify rare germline variants and somatic mutations of interest.
Read the full summary ↓
In parallel, we conducted a comprehensive inflammatory marker profiling from the patients’ sera. We used a bespoke assay to detect NLRP3 inflammasome activation and novel method to measure Type I Interferon (IFN) score. We found a strong genetic connection between AOSD and the presence of rare germline variants and somatic mutations within genes associated with monogenic autoinflammatory disorders and clonal haematopoiesis of unknown significance. Profiling of inflammatory markers showed significantly elevated ASC/NLRP3 speck levels in AOSD compared to healthy controls, whilst cytokine analysis identified several significantly elevated cytokines including IL-18, IL-6, IL-23, IFN and IFN-2. The Type I IFN score was also significantly higher in AOSD compared to healthy and some disease controls. We did not find any correlation between rare genetic variants and somatic mutation burden with selected inflammatory markers (ASC/NLRP3 speck, ASC speck, IL-1IL-18, IL-6 and Type I IFN score). Our study demonstrated considerable genetic complexity within AOSD. Many enriched variants may not be sufficient, individually to cause disease but more likely to contribute to a multiple-hit model for AOSD.
Published in
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease
Topping J, Chang L, Nadat F et al. · Arthritis & rheumatology (Hoboken, N.J.) 2025 · PMID 39492681 · doi:10.1002/art.43054
This dataset
Open GSE244372 in finder → Find more human RNA-seq datasets →
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓
2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE244372_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1022483 and SRA study SRP463939. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 39492681) ↗
Study design
27 × Blood, AOSD, Still

Supports a between-group comparison across 27 samples.

How we read this: 1 replicated groups read from 37 sample titles; they account for 27 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
Datasets on a similar topic

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