Genetic and epigenetic signaling pathways and their clinical outcomes in inflammatory bowel disease: Genetic and epigenetic insights into inflammatory bowel disease

Gizem Esenturk; Ece Konac

doi:10.5281/zenodo.16184032

Authors

Gizem Esenturk Gazi University Institute of Health Sciences, Department of Medical Biology and Genetics, Ankara, Turkey https://orcid.org/0000-0002-8041-6633
Ece Konac Gazi University Faculty of Medicine, Department of Medical Biology, Ankara, Turkey https://orcid.org/0000-0001-5129-2515

DOI:

https://doi.org/10.5281/zenodo.16184032

Keywords:

Epigenetic, genetic, inflammatory bowel disease, signal pathway

Abstract

Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are chronic progressive immune-mediated inflammatory conditions of the gastrointestinal tract. The etiology of IBD is multifactorial, involving genetic predisposition, environmental factors, immune dysregulation, and gut microbiota. Genetics has played a pivotal role in elucidating the pathogenesis of IBD, with genome-wide association studies (GWAS) identifying more than 200 susceptibility loci. Additionally, epigenetic mechanisms, such as DNA methylation, histone modifications, and noncoding RNAs, have clarified the role of gene-environment interactions in the pathogenesis of IBD. Epigenetic mechanisms regulate key signaling pathways, dynamically modulating disease onset, progression, and therapy response. By unraveling the complex interactions between genetic and epigenetic factors, we can gain deeper insights into disease mechanisms and uncover novel opportunities for therapeutic and diagnostic advancements. In this review, we examine the contributions of genetic and epigenetic research to our understanding of IBD and explore their potential in diagnosis, monitoring, treatment, and personalized medicine.

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