title: Genetic basis of chronic pancreatitis in Asia Pacific region.
abstract: Chronic pancreatitis (CP) is a disease characterized by irreversible destruction and fibrosis of the parenchyma, leading to pancreatic exocrine insufficiency. In developed countries, the etiology for 60% to 70% of CP amongst male patients is alcohol and 25% are classified as idiopathic chronic pancreatitis (ICP). The genetic predisposition to CP could be an inappropriate activation of trypsinogen in the pancreas. Two common haplotypes, c.101A>G (p.N34S) and c.-215G>A, and four intronic alterations of the serine protease inhibitor Kazal type 1 (SPINK1) gene have been found to increase the risk for CP in the Asia Pacific region. Hence, SPINK1 is thought to be a candidate gene for pancreatitis. A loss-of-function alteration in chymotrypsinogen C (CTRC) gene has been shown to be associated with tropical calcific pancreatitis (TCP). Cathepsin B (CTSB) is also found to be associated with TCP. However mutations in cationic and anionic trypsinogen gene do not play an important role in causing CP in Asia Pacific region.
authors.affiliation: Asian Healthcare Foundation, Asian Institute of Gastroenterology, Somajiguda, Hyderabad, Andhra Pradesh, India. aigindia@yahoo.co.in
authors.forename: D Nageshwar
authors.initials: DN
authors.lastname: Reddy
authors.forename: S Siva
authors.initials: SS
authors.lastname: Prasad
mesh_terms: D001208:Asia / Q000453:epidemiology; D002352:Carrier Proteins / Q000235:genetics; D002401:Cathepsin B / Q000235:genetics; D002918:Chymotrypsin / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D044349:Oceania / Q000453:epidemiology; D050500:Pancreatitis, Chronic / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D014357:Trypsin / Q000378:metabolism; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014361:Trypsin Inhibitors / Q000235:genetics; D014362:Trypsinogen / Q000235:genetics / Q000378:metabolism
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014361:Trypsin Inhibitors; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; D002918:Chymotrypsin; C117569:chymotrypsin C; D014357:Trypsin; C533912:CTSB protein, human; D002401:Cathepsin B