Malattie infiammatorie del colon e del pancreas e loro associazioni genetiche

Pancreatic diseases are associated with intense inflammation and the polymorphism -2518G of MCP1 gene alters chemokine expression increasing phlogosis. We noticed an association of the polymorphism with acute recurrent pancreatitis and in obese subjects with chronic pancreatitis. No association was found between MCP1 and IBD. This study evaluated also the GSTT1 polymorphism effects on patients affected by pancreatic diseases. It causes loss of expression of the accessory protein that, when active, catalyzes reduced glutathione conjugation with electrophilic species. GSTT1 presence provokes a rapid glutathione depletion therefore loosing its protective effects on tissues. It seems that absence of the gene may reduce pancreatic cells damage. The study evidenced a significant difference in the polymorphism expression between patients with acute pancreatitis and those with acute recurrent and chronic pancreatitis. It seems that the polymorphism is involved in the development of pancreatic diseases which tend to become chronic. It has also been investigated the possible association of NOD2/CARD15 gene mutations with IBD. They cause an inadequate inflammatory response against endoluminal antigens, process that is associated with IBD pathogenesis. This study evidenced a significant association between 1007fs mutation and Crohn’s disease.