Crohn’s & Colitis Congress 2024 Poster

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. 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 performed a comparative assessment of Ovation’s IBD Omics Data with UK Biobank’s whole exome sequencing data, as well as conducted differential gene expression (DEG) analysis of Ovation’s IBD Omics Data to identify IBD-related genes of interest. Through this analysis, researchers identified DEGs in Ovation’s IBD Omics Data which were also concordant with similar studies. Twice as many of these genes had minor alleles (> 5% frequency) in Ovation’s IBD Omics Data compared to the UK Biobank’s 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 (> 5% frequency) and 13 minor alleles (> 1% frequency) 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, > 1,500 minor alleles (>1% frequency) were identified for this gene.