Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain,diarrhea,fever,abdominal distension,and weight loss. Complications outside of the gastrointestinal tract may include anemia,skin rashes,arthritis,inflammation of the eye,and fatigue. The skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum. Bowel obstruction may occur as a complication of chronic inflammation,and those with the disease are at greater risk of colon cancer and small bowel cancer.
Ulcerative colitis (UC) is a type of inflammatory bowel disease (IBD). It is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood (hematochezia). Weight loss,fever,and anemia may also occur. Often,symptoms come on slowly and can range from mild to severe. Symptoms typically occur intermittently with periods of no symptoms between flares. Complications may include abnormal dilation of the colon (megacolon),inflammation of the eye,joints,or liver,and colon cancer.
Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine,with Crohn's disease and ulcerative colitis (UC) being the principal types. Crohn's disease affects the small intestine and large intestine,as well as the mouth,esophagus,stomach and the anus,whereas ulcerative colitis primarily affects the colon and the rectum.
Colitis is swelling or inflammation of the large intestine (colon). Colitis may be acute and self-limited or long-term. It broadly fits into the category of digestive diseases.
Biological therapy, the use of medications called biopharmaceuticals or biologics that are tailored to specifically target an immune or genetic mediator of disease,plays a major role in the treatment of inflammatory bowel disease. Even for diseases of unknown cause,molecules that are involved in the disease process have been identified,and can be targeted for biological therapy. Many of these molecules,which are mainly cytokines,are directly involved in the immune system. Biological therapy has found a niche in the management of cancer,autoimmune diseases,and diseases of unknown cause that result in symptoms due to immune related mechanisms.
The common disease-common variant hypothesis predicts that common disease-causing alleles,or variants,will be found in all human populations which manifest a given disease. Common variants are known to exist in coding and regulatory sequences of genes. According to the CD-CV hypothesis,some of those variants lead to susceptibility to complex polygenic diseases. Each variant at each gene influencing a complex disease will have a small additive or multiplicative effect on the disease phenotype. These diseases,or traits,are evolutionarily neutral in part because so many genes influence the traits. The hypothesis has held in the case of putative causal variants in apolipoprotein E,including APOE ε4,associated with Alzheimer's disease. IL23R has been found to be associated with Crohn's disease;the at-risk allele has a frequency of 93% in the general population.
Anti-Saccharomyces cerevisiae antibodies (ASCAs) are antibodies against antigens presented by the cell wall of the yeast Saccharomyces cerevisiae. These antibodies are directed against oligomannose sequences α-1,3 Man n. ASCAs and perinuclear antineutrophil cytoplasmic antibodies (pANCAs) are the two most useful and often discriminating biomarkers for colitis. ASCA tends to recognize Crohn's disease more frequently,whereas pANCA tend to recognize ulcerative colitis.
Pancolitis,in its most general sense,refers to inflammation of the entire colon. This can be caused by a variety of things. Pancolitis or universal colitis is frequently used in a more specific fashion to denote a very severe form of ulcerative colitis. This form of ulcerative colitis is spread throughout the entire large intestine including the right colon,the left colon,the transverse colon,descending colon,and the rectum. A diagnosis can be made using a number of techniques but the most accurate method is direct visualization via a colonoscopy. Symptoms are similar to those of ulcerative colitis but more severe and affect the entire large intestine. Patients with ulcerative colitis generally exhibit symptoms including rectal bleeding as a result of ulcers,pain in the abdominal region,inflammation in varying degrees,and diarrhea. Pancolitis patients exhibit these symptoms and may also experience fatigue,fever,and night sweats. Due to the loss of function in the large intestine patients may lose large amounts of weight from being unable to procure nutrients from food. In other cases the blood loss from ulcers can result in anemia which can be treated with iron supplements. Additionally,due to the chronic nature of most cases of pancolitis,patients have a higher chance of developing colon cancer.
TNFAIP3-interacting protein 1, also known as ABIN-1,is a protein that in humans is encoded by the TNIP1 gene.
Autophagy related 16 like 1 is a protein that in humans is encoded by the ATG16L1 gene. This protein is characterized as a subunit of the autophagy-related ATG12-ATG5/ATG16 complex and is essentially important for the LC3 (ATG8) lipidation and autophagosome formation. This complex localizes to the membrane and is released just before or after autophagosome completion.
The interleukin-23 receptor is a type I cytokine receptor. It is encoded in human by the IL23R gene. In complex with the interleukin-12 receptor β1 subunit (IL-12Rβ1),it is activated by the cytokine interleukin 23 (IL-23). The IL23R mRNA is 2.8 kilobases in length and includes 12 exons. The translated protein contains 629 amino acids;it is a type I penetrating protein and includes a signal peptide,an N-terminal fibronectin III-like domain and an intracellular part that contains three potential tyrosine phosphorylation domains. There are 24 IL23R splice variants in mitogen-activated lymphocytes. IL23R includes some single-nucleotide polymorphisms in the region encoding the domain that binds IL-23,which may lead to differences between people in Th17 activation. There is also a variant of IL-23R that consists of just the extracellular part and is known as soluble IL-23R. This form can compete with the membrane-bound form to bind IL-23,modulating the Th17 immune response and regulation of inflammation and immune function.
Faecalibacterium is a genus of bacteria. The genus contains several species including Faecalibacterium prausnitzii,Faecalibacterium butyricigenerans,Faecalibacterium longum,Faecalibacterium duncaniae,Faecalibacterium hattorii,and Faecalibacterium gallinarum. Its first known species,Faecalibacterium prausnitzii is gram-positive,mesophilic,rod-shaped,and anaerobic,and is one of the most abundant and important commensal bacteria of the human gut microbiota. It is non-spore forming and non-motile. These bacteria produce butyrate and other short-chain fatty acids through the fermentation of dietary fiber. The production of butyrate makes them an important member of the gut microbiota,fighting against inflammation.
The Center for Applied Genomics is a research center at the Children's Hospital of Philadelphia that focuses on genomics research and the utilization of basic research findings in the development of new medical treatments.
Immunity-related GTPase family M protein (IRGM),also known as interferon-inducible protein 1 (IFI1),is an enzyme that in humans is encoded by the IRGM gene.
HORMA domain containing 2 is a protein that in humans is encoded by the HORMAD2 gene.
Strawberry notch homolog 2 (Drosophila) is a protein that in humans is encoded by the SBNO2 gene.
GWAS in allergy is a study of a meta-analysis of genome-wide association study in which allergy is associated with different susceptibility loci. The three allergic phenotypes studied were to cat,dust mites and pollen,for which found patients presenting allergic symptoms.
Metatranscriptomics is the set of techniques used to study gene expression of microbes within natural environments,i.e.,the metatranscriptome.
Mahmud Barmada,known as Michael Barmada,(1969–2016) was an American geneticist. He was a Distinguished Professor at the University of Pittsburgh School of Medicine.
Philip Rosenstiel is a German medical doctor and an academic. He is director of the Institute of Clinical Molecular Biology and a professor of clinical molecular biology at Kiel University.
