Non-invasive Molecular Diagnostics for Inflammatory Bowel Disease : A Genetic and Biomarkers Study

Inflammatory bowel disease (IBD) is a chronic inflammatory disorder affecting the gastrointestinal tract and is characterized by a progressive and unpredictable disease course. There has been a global rise in the incidence of IBD over the last few decades. Considering the chronic, progressive nature of IBD and the costliness of its treatment, the rise of IBD entails a growing socioeconomic burden. A growing body of evidence suggests that IBD may be the result of an interaction between genetic factors, environmental factors, life style factors as diet, antibiotics, intestinal barrier dysfunctions and altered microbes.

According to a large meta-analysis of population-based studies (2000-2022) The global prevalence rates of IBD was 229.7 per 100,000 persons and the incidence was 9.7 per 100,000 persons. Europe had the highest prevalence rates of IBD while the highest IBD incidence was seen in Oceania. Research in the Arab world suggests that the IBD prevalence in Arab countries increased from ~28.9 to ~34 cases per 100,000 between 2009 and 2019, with Egypt as one of the leading countries producing IBD research output. According to a recent global burden study (1990-2021), the absolute number of deaths attributed to IBD nearly doubled: from ~21,418 in 1990 to ~42,422 in 2021 - reflecting growing numbers of people living with IBD.

It is characterized by remission and exacerbation course. Bloody stools, abdominal pain, weight loss, chronic diarrhea, and the presence of immune-mediated extra-intestinal manifestations represent the disease's symptoms.

Over time, severe inflammation within the intestine can lead to serious complications, including ulcers, narrowing of the intestinal lumen, and even perforations. Notably, IBD can cause considerable damage to the digestive system, resulting in substantial tissue injury, reduced intestinal functionality, associated disability, and a state of systemic inflammation that may impact the individual's overall health. Also, Patients with inflammatory bowel disease have an increased risk of developing colorectal cancer.

Inflammatory bowel disease manifests primarily in two major forms: Crohn's disease (CD) and ulcerative colitis (UC) . Crohn's disease typically exhibits lesions in the ileum and colon, characterized by intermittent inflammatory changes of the permeable wall while Ulcerative colitis predominately develops on the mucosal surface of the rectum, displaying continuous inflammatory foci.