Ulcerative colitis (UC), one of two major types of inflammatory bowel disease, is an idiopathic and chronic inflammatory disorder of the colonic mucosa, which starts in the rectum and generally extends proximally in a continuous manner through part of, or the entire, colon. The course of UC is prolonged, easy to recurrent, and has a tendency to become cancerous. It was once listed by WHO as one of the modern refractory diseases. Although scientists have conducted in-depth research, the exact cause of UC is still unknown. The pathogenic factors that have been proposed so far include: genetic susceptibility; infectious agents (bacteria and viruses); immune system defects; and environmental factors. The incidence of UC has continued to increase rapidly in recent years. According to epidemiological statistics, North America and Northern Europe are the areas with the highest incidence and prevalence of UC, with an incidence rate of 9 to 20 per 100,000 people per year, with a prevalence rate of 156 to 291 per 100,000 people. UC has a bimodal pattern of incidence, with the main onset peak between ages 15 and 30 years, and a second smaller peak between ages 50 and 70 years. Commonly, the symptoms of UC include belly pain or cramps; a feeling of urgently needing to open the bowels; blood, mucus or pus in the stool; diarrhea; fatigue; weight loss and loss of appetite. What's more, people with UC may also have other symptoms unrelated to the bowel, including: oral ulcers; skin problems; joint pains; liver diseases and eye problems.
Much work in the past decade has focused on the development of serologic markers for UC. Scientists have found that polymorphisms in some key genes that control barrier function are associated with the pathogenesis of UC. These include polymorphisms in ECM1, well-known to keep epithelial basement membrane integrity, DH1 locus, encoding the adherens junction protein E-cadherin required for tight junction formation, HNF4a, responsible for epithelial differentiation, and LAMB1, encoding the β1 subunit of basement membrane laminin. Polymorphisms in GNA12, associated with tight junction assembly via interactions with Zo-1 and Src, have recently been described. What’s more, abnormalities in the IL-23 signaling pathway, which play a key role in expansion and differentiation of T helper (Th) and other innate immune cells, contributes to the development of UC. Other members of the pathway such as JAK2, TYK2, and signal transducers and activators of transcription (STAT) including STAT1, STAT3, STAT4 have also been linked to disease pathogenesis. Indeed, numerous single gene disorders have recently been reported, including mutations in AAMP, NKX2-3, NUSAP1, TMBIM1, IL-10, and MST1.
To better understand the consequences of these mutations in UC-associated genes, our panel can provide not only targeted DNA sequencing by the Illumina MiSeq, but also a comprehensive ulcerative colitis panel library from which you can choose to customize for genetic testing.
(Download the ulcerative colitis gene list for more genes)
For more information about the Custom Ulcerative Colitis Panel or need other amplification requirements, please contact us.