SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event

American Journal of Gastroenterology

Volumn 105, Issue 2, 2010, Pages 446-451

  Aoun, Elie ^a   Muddana, Venkata ^a   Papachristou, Georgios I ^a   Whitcomb, David C ^a  

^a UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE PANCREATITIS; ADULT; ALLELE; ARTICLE; CHRONIC PANCREATITIS; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; RECURRENT DISEASE; RISK FACTOR; SERINE PROTEASE INHIBITOR KAZAL TYPE 1;

ADULT; AGED; CARRIER PROTEINS; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PANCREATITIS; POLYMORPHISM, GENETIC; RECURRENCE; RISK FACTORS;

EID: 76349094276     PISSN: 00029270     EISSN: 15720241     Source Type: Journal    
DOI: 10.1038/ajg.2009.630     Document Type: Article

References (31)

1. Shaheen N J, Hansen R A, Morgan D R et al. The burden of gastrointestinal and liver diseases, 2006. Am J Gastroenterol 2006;101:2128-2138
2. Forsmark CE, Baillie J. AGA Institute Thechnical Review on Acute Pancreatitis. Gastroenterology 2007;132:2022-2044 (Pubitemid 46677956)
3. Whitcomb DC. Clinical practice. Acute pancreatitis. N Engl J Med 2006;354:2142-2150
4. Whitcomb D C, Gorry M C, Preston R A et al. Hereditary pan creatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145
5. Cohn JA, Friedman K J, Noone P G et al. Relation between mutations of the cystic f brosis gene and idiopathic pancre atitis. N Engl J Med 1998; 339: 653-658
6. Truninger K, Malik N, Ammann RW et al. Mutations of the cystic f brosis gene in patients with chronic pancreatitis. Am J Gastroenterol 2001;96:2657-2661
7. Felderbauer P, Hofmann P, Einwachter H et al. A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations. BMC Gastroenterol 2003;3:34.
8. Muddana V, Lamb J, Greer J B et al. Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol. World J Gastroenterol 2008;14:4486-4491
9. Rosendahl J, Witt H, Szmola R et al. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet 2008;40:78-82.
10. Szmola R, Whitcomb DC. Molecular genetics of chronic pancreatitis. Encyclopedia of Life Sciences. 15 March 2009; doi: 10.1002/9780470015902. a0021481.
11. Chen JM, Mercier B, Audrezet MP et al. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J Med Genet 2000;37:67-69
12. Pfutzer R H, Barmada M M, Brunskill A P et al. SPINK1/PSTI polymorphisms act as disease modif ers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-623
13. Witt H, Luck W, Hennies HC 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. Marchbank T, Freeman T C, Playford R J. Human pan creatic secreto ry trypsin inhibitor. Distribution, actions and possible role in mucosal integrity and repair. Digestion 1998; 59: 167-174
15. Rinderknecht H. Pancreatic secretory enzymes. In: Go VLW, DiMagno EP, Gardner JD, Liang W (eds). The Pancreas: Biology, Pathobiology, and Disease, 2nd edn. Raven Press: New York, 1993, pp. 219-251
16. Whitcomb D C, Gorry M C, Preston R A et al. Hereditary pan creatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145
17. Whitcomb DC. How to think about SPINK and pancreatitis. Am J Gastroenterol 2002;97:1085-1088
18. Witt H, Luck W, Hennies HC 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
19. Aoun E, Chang C C, Greer J B et al. Pathways to injury in chronic pancrea-titis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis. PLoS ONE 2008; 3: e2003.
20. Pfutzer RH, Whitcomb DC. SPINK1 mutations are associated with multiple phenotypes. Pancreatology 2001;1:457-460
21. Lasson A, Borgstrom A, Ohlsson K. Elevated pancreatic secretory trypsin inhibitor levels during severe inf ammatory disease, renal insuficiency, and afer various surgical procedures. Scand J Gastroenterol 1986;21: 1275-1280
22. Ogawa M. Pancreatic secretory trypsin inhibitor as an acute phase reactant. Clin Biochem 1988;21:19-25.
23. Jonsson P, Linder C, Genell S et al. Extrapancreatic origin of the pancreatic secretory trypsin inhibitor as an acute-phase reactant. Pancreas 1996;12:303-307
24. Khalid A, Finkelstein S, Tompson B et al. A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance. Gut 2006;55:728-731
25. Tukiainen E, Kylanpaa M L, Kemppainen E et al. Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis. Pancreas 2005;30:239-242
26. O'Reilly D A, Witt H, Rahman SH et al. The SPINK1 N34S variant is associated with acute pancreatitis. Eur J Gastroenterol Hepatol 2008; 20: 726-731
27. Papachristou G I, Papachristou D J, Avula H et al. Obesity increases the severity of acute pancreatitis: performance of APACHE-O score and correlation with the inf ammatory response. Pancreatology 2006; 6: 279-285
28. Whitcomb D C, Yadav D, Adam S et al. Multicenter approach to recurrent acute and chronic pancreatitis in the United States: the North American Pancreatitis Study 2 (NAPS2). Pancreatology 2008;8:520-531
29. Shahbazi M, Pravica V, Nasreen N et al. Association between functional polymorphism in EGF gene and malignant melanoma. Lancet 2002;359: 397-401.
30. Aoun E, Slivka A, Papachristou D J et al. Rapid evolution from the first episode of acute pancreatitis to chronic pancreatitis in human subjects. JOP 2007; 8: 573-578
31. Treadgold J, Greenhalf W, Ellis I 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