Inflammatory bowel diseases (IBD), such as Crohn's disease (CD) and Ulcerative colitis (UC), are characterized by chronic intestinal inflammation caused by a dysregulated interaction with bacterial antigens, resulting in an exaggerated immune response in a genetically predisposed person.
Crohn's disease (CD) causes inflammation of the digestive system. It can affect any area from the mouth to the anus, and often affects the lower part of the small intestine called the ileum. Symptoms include pain in the abdomen, diarrhea. bleeding from the rectum, weight loss and fever. Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon.
PTPN2 Gene encodes a protein which is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, and oncogenic transformation. Recent GWAS identified PTPN2 as a susceptibility gene for CD[4,5,6] while a GWAS meta-analyses in UC patients also showed an association with UC.
Inflammatory bowel diseases, IBD, PTPN2 Gene