Monogenic diseases have been shown to contribute to complex disease risk and may hold new insights into the underlying biological mechanism of Inflammatory Bowel Disease (IBD).
Dr Russ Altman and colleagues analyzed Mendelian disease associations with IBD using over 55 million patients from the Optum’s deidentified electronic health records dataset database.
|50 Mendelian diseases were significantly associated with IBD|
|Inflammatory Bowel Diseases|
Using the significant Mendelian diseases, the researchers performed pathway enrichment analysis and constructed a model using gene expression datasets to differentiate Crohn’s disease, ulcerative colitis, and healthy patient samples.
The research team found that 50 Mendelian diseases were significantly associated with IBD, with 40 being significantly associated with both CD and UC.
The team's results for CD replicated those from previous studies.
Pathways that were enriched consisted of mainly immune and metabolic processes with a focus on tolerance and oxidative stress.
The researchers reported that their 3-way classifier for UC, CD, and healthy samples yielded an accuracy of 72%.
Dr Altman's team concludes, "Mendelian diseases that are significantly associated with IBD may reveal novel insights into the genetic architecture of IBD."