Last week, the Crohn’s & Colitis Foundation and the American Gastroenterological Association (AGA) convened its annual Crohn’s & Colitis Congress®, the premier meeting in inflammatory bowel disease (IBD). Over 1,000 professionals from the IBD field representing a variety of disciplines came together in Las Vegas to discuss the latest research about Crohn’s disease and ulcerative colitis.

At the event, we were proud to showcase our latest research in collaboration with Paradigm4: “Comparative assessment of biobank datasets for the study of inflammatory bowel disease.”

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Research summary

Using human omics data to select the best targets and identify biomarkers has proven to have a significant impact on the successful development of new drugs (1). However, a lack of available multiomics datasets has slowed progress between genomic variants, gene expression, and disease progress in inflammatory bowel disease (IBD). 

Reflected in this poster, researchers at Ovation and Paradigm4 performed a comparative assessment of Ovation IBD Omics Data with UK Biobank whole exome sequencing data, as well as conducted differential gene expression analysis of Ovation IBD Omics Data to identify IBD-related genes of interest. Through this analysis, researchers identified differentially expressed genes (DEGs) in Ovation IBD Omics Data which were also concordant with similar studies. Twice as many of these genes had minor alleles (frequency > 5%) in Ovation IBD Omics Data compared to the UK Biobank whole exome sequencing (WES) data. 

Researchers also found that PFKFB3 showed significant up-regulation in association with increased disease severity in inflamed IBD tissues, offering potential new insights into the disease. Notably, for this gene, one minor allele (frequency > 5%) and 13 minor alleles (frequency > 1%) were identified in Ovation’s derived WES dataset, while zero minor alleles (at any frequency) were found in the UK Biobank WES data. When analyzing Ovation’s whole genome sequencing (WGS) data, more than 1,500 minor alleles ( frequency >1%) were identified for this gene. 

Why this research matters

This research highlighted how comprehensive and diverse multiomics datasets such as Ovation’s, which includes WGS and RNA sequencing (RNA-seq) data from both inflamed and non-inflamed tissues—linked to treatment exposures and other relevant clinical data—can help provide novel insights into disease biology for complex diseases like IBD. This research represents findings from 212 patients, only a subset of Ovation’s available ~5,100 patients with diseased and normal tissue, including hundreds of patients with sequential samples at multiple timepoints in their patient journey. This data is especially relevant for identifying new therapeutic targets and biomarkers. 

More specifically, direct links between PFKFB3 and IBD have been established in the literature, with studies indicating that reduced expression of this gene can lead to improvements in experimental colitis in mouse models (2,3). This research underscores the potential of Ovation IBD Omics Data to target genes of interest, such as PFKFB3, and further interrogate the role of less-explored genetic variants in patients afflicted with IBD.

We encourage life sciences researchers to access Ovation IBD Omics Data to further study the relationship between unique genomic variants identified, expression profiles, and associated metadata to identify candidates of potential clinical relevance. Reach out to our team at [email protected] to learn more.

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Learn more about Ovation IBD Omics Data >

References

1. Nelson MR, Tipney H, Painter JL, et al. The support of human genetic evidence for approved drug indications. Nat Genet. 2015;47(8):856-860. doi:10.1038/ng.3314
2. Duan S, Lou X, Chen S, et al. Macrophage LMO7 deficiency facilitates inflammatory injury via metabolic-epigenetic reprogramming. Acta Pharm Sin B. 2023;13(12):4785-4800. doi:10.1016/j.apsb.2023.09.012
3. Zhou Z, Plug LG, Patente TA, et al. Increased stromal PFKFB3-mediated glycolysis in inflammatory bowel disease contributes to intestinal inflammation. Front Immunol. 2022;13:966067. Published 2022 Nov 2. doi:10.3389/fimmu.2022.966067