Genetic link identified between inflammatory bowel disease and Parkinson's disease

By Dr. Liji Thomas, MDMay 15 2024Reviewed by Danielle Ellis, B.Sc. Both inflammatory bowel disease and Parkinson’s disease are chronic inflammatory conditions, and some scientists hypothesize a common pathway for both involving the leucine-rich repeat kinase 2 gene. A recent study published in Genome Medicine examined rare gene variants found in people with both these conditions in a bid to identify the genetic underpinnings common to both.

A large recent meta-analysis involving 12 million patients seems to underline the plausibility of this hypothesis by demonstrating that IBD patients have a higher risk of being diagnosed with PD, especially after the age of 65. Conversely, the use of anti-inflammatory drugs such as TNF-α inhibitors is associated with a marked drop in PD risk. These reports indicate the possibility that IBD and PD are both triggered in some way by inflammation, shared genes, or both.

About the study The researchers used genomic data from a set of 67 European patients who had both PD and IBD, as well as whole exomes from the BioMe BioBank and UK Biobank. The aim was to find how non-functional variants of LRRK2 affected either condition or the odds of their occurring together. For instance, G2019S was more frequent in both PD and IBD, while N2081D was linked to increased risk for PD and CD. The P1542S variant was found to be associated with a higher risk of IBD-PD only. In contrast, R1398H, N551K, and I723V variants were protective against IBD-PD.

Some pathways were found to be enriched in the gene sets related to IBD, PD, and putative IBD-PD. Some others were identified as being uniquely enriched in IBD-PD gene sets alone. The genes associated with IBD-PD were compared to those known to be associated with either IBD or PD and found to be more often related than expected by random chance.

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