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Investigations into the aetiopathogenesis of orofacial granulomatosis using multiple omics technologies reveals a potential role for B cells

GSE320069 Homo sapiens (human) RNA-seq (gene expression) 16 samples Submitted 2026/05/20 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 16 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
16 samples: 9 × OFG patient vs 7 × Healthy controlGroups 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
Investigations into the aetiopathogenesis of orofacial granulomatosis using multiple omics technologies reveal a potential role for B cellsClinical and translational medicine · 2026
Summary (written by the submitters)
The aim of this study was to utilise multiple ‘omics’ technologies to determine the aetiopathogenesis of orofacial granulomatosis (OFG) and its relationship to Crohn’s Disease (CD) Thirty-two participants with OFG, with and without CD, and forty-three healthy controls were recruited. Expression of genes in buccal mucosal tissue of participants was compared using RNA-seq.
Read the full summary ↓
Genetic variants associated with OFG were determined by whole exome sequencing (WES). The salivary inflammatory proteome was determined using Olink® PEA technology and ELISAs. The oral microbiome of participants was determined using 16S rRNA sequencing. RNA-seq demonstrated upregulation of genes involved in B-cell regulatory pathways in OFG. WES identified deleterious variants in the SRGAP2 and AK2 genes are associated with OFG. Salivary inflammatory proteome analysis revealed increased expression of proteins involved in adaptive immune responses and calprotectin. Microbiome analysis revealed a reduced microbial diversity and decreased compositional similarity in OFG. In OFG, the presence of concurrent CD had no impact on any findings.The immunopathogenesis of OFG (irrespective of concurrent CD) was characterised by the upregulated expression of genes and proteins involved B cell responses. In addition, mutations in genes which play a role in B cell function, such as AK2, may predispose participants to OFG. There is evidence of dysbiosis of the oral microbiome in participants with OFG. Although the exact aetiological cause of OFG remains elusive, the evidence suggests that OFG is a B cell driven disease and biological therapies such as Rituximab may be repurposed to manage the condition.
Published in
Investigations into the aetiopathogenesis of orofacial granulomatosis using multiple omics technologies reveal a potential role for B cells
Tumelty M, Patel K, Petersen H et al. · Clinical and translational medicine 2026 · PMID 42117437 · doi:10.1002/ctm2.70689
This dataset
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.

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 GSE320069_RAW.tar (it can run to tens of gigabytes).

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.

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 PRJNA1426338 and SRA study SRP678382. Searching any of these in the dataset finder brings you back here.

Study design
9 × OFG patient vs 7 × Healthy control

Supports a case/control comparison: 9 samples read as cases, 7 as controls.

How we read this: 2 replicated groups read from 16 sample titles; they account for 16 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
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