Genetics of pancreatitis

Scandinavian Journal of Surgery

Volumn 94, Issue 2, 2005, Pages 103-107

  Keim, Volker ^a  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

Cationic trypsinogen; CFTR; Chronic pancreatitis; Hereditary pancreatitis; PRSS1; SPINK1

Indexed keywords

APROTININ; CATION; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

ALCOHOL CONSUMPTION; AUTOSOMAL DOMINANT INHERITANCE; CHRONIC PANCREATITIS; DISEASE SEVERITY; GENE MUTATION; GENETIC RISK; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; PANCREAS CANCER; PATHOGENESIS; REVIEW; RISK FACTOR;

EID: 23844463595     PISSN: 14574969     EISSN: None     Source Type: Journal    
DOI: 10.1177/145749690509400204     Document Type: Review

References (29)

1. Comfort M, Steinberg A: Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterol 1952;21:54-63
2. Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD: Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145
3. Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M: Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-216
4. Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-652
5. Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS: Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998; 339:653-658
6. Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, Jansen J, Charnley R, Laugier R, Frulloni L, Olah A, Delhaye M, Ihse I, Schaffalitzky de Muckadell OB, Andren-Sandberg A, Imrie CW, Martinek J, Gress TM, Mountford R, Whitcomb D, Neoptolemos JP: The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut 2002;50: 675-681
7. Creighton J, Lyall R, Wilson DI, Curtis A, Charnley R: Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis. Lancet 1999;354:42-43
8. Simon P, Weiss FU, Zimmer KP, Rand S, Brinkmann B, Domschke W, Lerch MM: Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis. JAMA 2002;288:2122
9. Keim V, Teich N: Idiopathic vs hereditary pancreatitis. JAMA 2003;289:983-984
10. Teich N, Bauer N, Mossner J, Keim V: Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. Am J Gastroenterol 2002; 97:341-346
11. Truninger K, Malik N, Ammann RW, Muellhaupt B, Seifert B, Muller HJ, Blum HE: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. Am J Gastroenterol 2001; 96:2657-2661
12. Witt H, Luck W, Becker M, Bohmig M, Kage A, Truninger K, Ammann RW, O'Reilly D, Kingsnorth A, Schulz HU, Halangk W, Kielstein V, Knoefel WT, Teich N, Keim V: Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis. JAMA 2001;285:2716-2717
13. Choudari CP, Imperiale TF, Sherman S, Fogel E, Lehman GA: Risk of pancreatitis with mutation of the cystic fibrosis gene. Am J Gastroenterol 2004;99:1358-1363
14. Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhaye M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP; European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC): Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004;2:252-261
15. Rossi L, Pfutzer RH, Parvin S, Ali L, Sattar S, Kahn AK, Gyr N, Whitcomb DC: SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report. Pancreatol 2001;1:242-245
16. Keim V, Bauer N, Teich N, Simon P, Lerch MM, Mossner J: Clinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene. Am J Med. 2001;111:622-626
17. Keim V, Witt H, Bauer N, Bodeker H, Rosendahl J, Teich N, Mossner J: The course of genetically determined chronic pancreatitis. JOP 2003;4:146-154
18. Noone PG, Zhou Z, Silverman LM, Jowell PS, Knowles MR, Cohn JA: Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterol 2001;121:1310-1319
19. White IR, Altmann DR, Nanchahal K: Alcohol consumption and mortality: modelling risks for men and women at different ages. BMJ 2002;325:191-197
20. Pfutzer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J, Furey WF, Whitcomb DC: SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterol 2000;119:615-623
21. Kuwata K, Hirota M, Shimizu H, Nakae M, Nishihara S, Takimoto A, Mitsushima K, Kikuchi N, Endo K, Inoue M, Ogawa M: Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution. J Gastroenterol 2002;37:928-934
22. Layer P, Yamamoto H, Kalthoff L, Clain JE, Bakken LJ, DiMagno EP: The different courses of early- and late-onset idiopathic and alcoholic chronic pancreatitis. Gastroenterol 1994;107: 1481-1487
23. Ammann RW, Muellhaupt B: The natural history of pain in alcoholic chronic pancreatitis. Gastroenterol 1999;116:1132-1140
24. Kukor Z, Toth M, Pal G, Sahin-Toth M: Human cationic trypsinogen. Arg(117) is the reactive site of an inhibitory surface loop that controls spontaneous zymogen activation. J Biol Chem 2002;277:6111-6117
25. Sahin-Toth M: Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis. J Biol Chem 2000;275:22750-22755
26. Teich N, Ockenga J, Hoffmeister A, Manns M, Mossner J, Keim V: Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. Gastroenterol 2000; 119:461-465
27. Chen JM, Kukor Z, Le Marechal C, Toth M, Tsakiris L, Raguenes O, Ferec C, Sahin-Toth M: Evolution of trypsinogen activation peptides. Mol Biol Evol 2003;20:1767-1777
28. Teich N, Le Marechal C, Kukor Z, Caca K, Witzigmann H, Chen JM, Toth M, Mossner J, Keim V, Ferec C, Sahin-Toth M: Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). Hum Mutat 2004;23:22-31
29. Simon P, Weiss FU, Sahin-Toth M, Parry M, Nayler O, Lenfers B, Schnekenburger J, Mayerle J, Domschke W, Lerch MM: Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 → Cys) that alters autoactivation and autodegradation of cationic trypsinogen. J Biol Chem 2002;277:5404-5410