The SPINK1 N34S variant is associated with acute pancreatitis

European Journal of Gastroenterology and Hepatology

Volumn 20, Issue 8, 2008, Pages 726-731

  OReilly, Derek A ^a,b,h   Witt, Heiko ^d   Rahman, Sakhawat H ^c   Schulz, Hans Ulrich ^g   Sargen, Kevin ^a,b   Kage, Andreas ^d   Cartmell, Mark T ^a,b   Landt, Olfert ^e   Larvin, Michael ^c   Demaine, Andrew G ^b   McMahon, Michael J ^c   Becker, Michael ^f   Kingsnorth, Andrew N ^a  

^a DERRIFORD HOSPITAL   (United Kingdom)

^b UNIVERSITY OF PLYMOUTH   (United Kingdom)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

^d HUMBOLDT UNIVERSITY   (Germany)

^e TIB MOLBIOL   (Germany)

^f DRK KLINIKEN BERLIN WESTEND   (Germany)

^g UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^h NORTH MANCHESTER GENERAL HOSPITAL   (United Kingdom)

Author keywords

Acute pancreatitis; SPINK1; Trypsin inhibitor

Indexed keywords

ACUTE PANCREATITIS; ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE; GENE FREQUENCY; GENE PROBE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SERINE PROTEASE INHIBITOR KAZAL TYPE 1 GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; ACUTE DISEASE; CLINICAL TRIAL; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MIDDLE AGED; MULTICENTER STUDY; ONSET AGE; PANCREATITIS; PHENOTYPE; POLYMERASE CHAIN REACTION;

CARRIER PROTEIN; SPINK1 PROTEIN, HUMAN;

ACUTE DISEASE; ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CARRIER PROTEINS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PANCREATITIS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 52749087397     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MEG.0b013e3282f5728c     Document Type: Article

References (32)

1. Kingsnorth A, O'Reilly D. Acute pancreatitis. Br Med J 2006; 332:1072-1076.
2. UK Working Party on Acute Pancreatitis. UK guidelines for the management of acute pancreatitis. Gut 2005; 54:1-9.
3. Toouli J, Brooke-Smith M, Bassi C, Carr-Locke D, Telford J, Freeny P, et al. Guidelines for the management of acute pancreatitis. J Gastroenterol Hepatol 2002; (Suppl):S15-S39.
4. Toh SKC, Phillips S, Johnson CD. A prospective audit against national standards of the presentation and management of acute pancreatitis in the South of England. Gut 2000; 46:239-243.
5. McKay CJ, Evans S, Sinclair M, Carter CR, Imrie CW. High early mortality from acute pancreatitis in Scotland, 1984-1995. Br J Surg 1999; 86:1302-1305.
6. Goldacre MJ, Roberts SE. Hospital admission for acute pancreatitis in an English population, 1963-98: database study of incidence and mortality. Br Med J 2004; 328:1466-1469.
7. Chiari H. Ueber Selbstverdauung des menschlichen Pankreas. Z Heilk 1896; 17:69-96.
8. Karne S, Gorelick FS. Etiopathogenesis of acute pancreatitis. Surg Clin North Am 1999; 79:699-710.
9. O'Reilly DA, Kingsnorth AN. Hereditary pancreatitis and mutations of the cationic trypsinogen gene. Br J Surg 2000; 87:706-714.
10. Szmola R, Sahin-Tóth M. Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme Y. Proc Natl Acad Sci USA 2007; 104:11227-11232.
11. Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996; 14:141-145.
12. Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999; 117:7-10.
13. Witt H, Luck W, Hennies HC, Classen M, Kage A, LaX U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000; 25:213-216.
14. Pfützer RH, Barmada MM, Brunskill APJ, Finch R, Hart PS, Neoptolemos J, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000; 119: 615-623.
15. Le Marechel C, Chen JM, LeGall C, Plessis G, Chipponi J, Chuzhanova NA, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat 2004; 23:205.
16. Truninger K, Witt H, Kock J, Kage A, Seifert B, Ammann RW, et al. Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis. Am J Gastroenterol 2002; 97:1133-1137.
17. Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, et al. 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.
18. Drenth JP, te Morsche R, Jansen JB. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. Gut 2002; 50:687-692.
19. Witt H, Luck W, Becker M, Böhmig M, Kage A, Truninger K, et al. Mutations in the SPINK1 trypsin inhibitor gene, alcohol use and chronic pancreatitis. J Am Med Assoc 2001; 285:2716-2717.
20. Chandak GR, Idris MM, Reddy DN, Bhaskar S, Sriram PV, Singh L. Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. J Med Genet 2002; 39: 347-351.
21. Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M, et al. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. Gastroenterology 2002; 123:1020-1025.
22. Schneider A, Suman A, Rossi L, Barmada MM, Beglinger C, Parvin S, et al. SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh. Gastroenterology 2002; 123: 1026-1030.
23. Tukiainen E, Kylanpaa ML, Kemppainen E, Nevanlinna H, Paju A, Repo H, et al. Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis. Pancreas 2005; 30:239-242.
24. Kume K, Masamune A, Mizutamari H, Kaneko K, Kikuta K, Satoh M, et al. Mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene in Japanese patients with pancreatitis. Pancreatol 2005; 5:354-360.
25. Bradley EL. A clinically based classification system for acute pancreatitis. Arch Surg 1993; 128:586-590.
26. Witt H, Sahin-Tóth M, Landt O, Chen JM, Kähne T, Drenth JP, et al. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet 2006; 38:668-673.
27. Kuwata K, Hirota M, Shimizu H, Nakae M, Nishihara S, Takimoto A, et al. Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution. J Gastroenterol 2002; 37:928-934.
28. Király O, Wartmann T, Sahin-Tóth M. Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. Gut 2007 [Epub ahead of print].
29. Boulling A, Le Maréchal C, Trouve P, Raguénes O, Chen JM, Férec C. Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet 2007 [Epub ahead of print].
30. Moreau JA, Zinsmeister AR, Melton LJ III, DiMagno EP. Gallstone pancreatitis and the effect of cholecystectomy: a population based cohort study. Mayo Clin Proc 1988; 63: 466-473.
31. Houssin D, Castaing D, Lemoine J, Bismuth H. Microlithiasis of the gallbladder. Surg Gynecol Obstet 1983; 157:20-24.
32. Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994; 265:2037-2048.