Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis

Gastroenterology

Volumn 140, Issue 1, 2011, Pages 162-171

  Schneider, Alexander ^a   Larusch, Jessica ^a   Sun, Xiumei ^a   Aloe, Amy ^a   Lamb, Janette ^a   Hawes, Robert ^c   Cotton, Peter ^c   Brand, Randall E ^d   Anderson, Michelle A ^e   Money, Mary E ^f   Banks, Peter A ^g   Lewis, Michele D ^h   Baillie, John ⁱ   Sherman, Stuart ^j   Disario, James ^k   Burton, Frank R ^l   Gardner, Timothy B ^m   Amann, Stephen T ⁿ   Gelrud, Andres ^o   George, Ryan ^a   Rockacy, Matthew J ^a   Kassabian, Sirvart ^a   Martinson, Jeremy ^b   Slivka, Adam ^a   Yadav, Dhiraj ^a   Oruc, Nevin ^a   Barmada, M Michael ^b   Frizzell, Raymond ^a   Whitcomb, David C ^a,b   more..

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d EVANSTON NORTHWESTERN HEALTHCARE   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

^f Washington County Hospital   (United States)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

^h MAYO CLINIC   (United States)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

^j INDIANA UNIVERSITY MEDICAL CENTER   (United States)

^k Monterey Bay Gastroenterology Consultants   (United States)

^l SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

ⁿ NORTH MISSISSIPPI MEDICAL CENTER   (United States)

^o UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

more..

Author keywords

NAPS2; Pancreas; Patch Clamp; Epistasis; Polygenic; Risk Factor

Indexed keywords

APROTININ; BICARBONATE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ANION TRANSPORT; ARTICLE; CELL STRAIN HEK293; CHILD; CHRONIC PANCREATITIS; CONTROLLED STUDY; EXON; FAMILIAL PANCREATITIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; IDIOPATHIC CHRONIC PANCREATITIS; MAJOR CLINICAL STUDY; MULTICENTER STUDY; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK ASSESSMENT; SCHOOL CHILD; SPORADIC PANCREATITIS; WILD TYPE;

EID: 78650425789     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2010.10.045     Document Type: Article

References (43)

1. B. Etemad, and D.C. Whitcomb Chronic pancreatitis: diagnosis, classification, and new genetic developments Gastroenterology 120 2001 682 707
2. D.E. Bockman Morphology of the exocrine pancreas related to pancreatitis Microsc Res Tech 37 1997 509 519
3. S.V. Shrikhande, M.E. Martignoni, and M. Shrikhande Comparison of histological features and inflammatory cell reaction in alcoholic, idiopathic and tropical chronic pancreatitis Br J Surg 90 2003 1565 1572
4. P.R. Durie Inherited and congenital disorders of the exocrine pancreas Gastroenterologist 4 1996 169 187
5. A. Augarten, A.B. Tov, and I. Madgar The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype Eur J Gastroenterol Hepatol 20 2008 164 168
6. R.K. Rowntree, and A. Harris The phenotypic consequences of CFTR mutations Ann Hum Genet 67 2003 471 485
7. R.C. Stern, J.D. Eisenberg, and J.S. Wagener A comparison of the efficacy and tolerance of pancrelipase and placebo in the treatment of steatorrhea in cystic fibrosis patients with clinical exocrine pancreatic insufficiency Am J Gastroenterol 95 2000 1932 1938
8. K. De Boeck, M. Weren, and M. Proesmans Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype Pediatrics 115 2005 e463 e469
9. J. Ockenga, M. Stuhrmann, and M. Ballmann Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis Am J Gastroenterol 95 2000 2061 2067
10. M. Ogawa Pancreatic secretory trypsin inhibitor as an acute phase reactant Clin Biochem 21 1988 19 25
11. A. Lasson, A. Borgstrom, and K. Ohlsson Elevated pancreatic secretory trypsin inhibitor levels during severe inflammatory disease, renal insufficiency, and after various surgical procedures Scand J Gastroenterol 21 1986 1275 1280
12. A. Khalid, S. Finkelstein, and B. Thompson A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance Gut 55 2006 728 731
13. E. Aoun, V. Muddana, and G.I. Papachristou SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event Am J Gastroenterol 105 2010 446 451
14. E. Aoun, C.C. Chang, and J.B. Greer Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis PLoS One 3 2008 e2003
15. R. Sutton, D. Criddle, and M.G. Raraty Signal transduction, calcium and acute pancreatitis Pancreatology 3 2003 497 505
16. D.C. Whitcomb, and G.B. Ermentrout A mathematical model of the pancreatic duct cell generating high bicarbonate concentrations in pancreatic juice Pancreas 29 2004 E30 E40
17. H.W. Park, J.H. Nam, and J.Y. Kim Dynamic regulation of CFTR bicarbonate permeability by [Cl-]i and its role in pancreatic bicarbonate secretion Gastroenterology 139 2010 620 631
18. D.C. Whitcomb, D. Yadav, and A. Slivka Multicenter approach to recurrent acute and chronic pancreatitis in the United States: the North American Pancreatitis Study 2 (NAPS2) Pancreatology 8 2008 520 531
19. S.E. Applebaum-Shapiro, R. Finch, and R.H. Pftzer Hereditary pancreatitis in North America: The Pittsburgh - Midwest Multi-Center Pancreatic Study Group Study Pancreatology 1 2001 439 443
20. D.C. Whitcomb Hereditary diseases of the pancreas T. Yamada, D.H. Albers, L. Laine, Textbook of gastroenterology 2003 Lippincott, Williams and Wilkins Philadelphia, PA 2147 2165
21. A.W. Chan, E.A. Pristach, and J.W. Welte Use of the TWEAK test in screening for alcoholism/heavy drinking in three populations Alcohol Clin Exp Res 17 1993 1188 1192
22. A. Schneider, M.M. Barmada, and A. Slivka Analysis of tumor necrosis factor-alpha, transforming growth factor-beta(1), interleukin-10, and interferon-gamma polymorphisms in patients with alcoholic chronic pancreatitis Alcohol 32 2004 19 24
23. D.C. Whitcomb, M.C. Gorry, and R.A. Preston Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene Nat Genet 14 1996 141 145
24. R.H. Pftzer, M.M. Barmada, and A.P. Brunskill SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis Gastroenterology 119 2000 615 623
25. F. Sun, M.J. Hug, and N.A. Bradbury Protein kinase A associates with cystic fibrosis transmembrane conductance regulator via an interaction with ezrin J Biol Chem 275 2000 14360 14366 (Pubitemid 30339719)
26. O.P. Hamill, A. Marty, and E. Neher Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches Pflugers Arch 391 1981 85 100
27. H. Witt, W. Luck, and H.C. Hennies Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis Nat Genet 25 2000 213 216
28. J. Zielenski, D. Bozon, and B. Kerem Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Genomics 10 1991 229 235
29. M. Schurmann, M. Albrecht, and E. Schwinger CFTR gene mutations in sarcoidosis Eur J Hum Genet 10 2002 729 732
30. A. Divac, A. Nikolic, and M. Mitic-Milikic High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease J Cyst Fibros 3 2004 189 191
31. J.A. Cohn, J.P. Neoptolemos, and J. Feng Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers Hum Mutat 26 2005 303 307
32. D. Hughes, T. Dork, and M. Stuhrmann Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland J Med Genet 38 2001 136 139
33. P.G. Noone, Z. Zhou, and L.M. Silverman Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations Gastroenterology 121 2001 1310 1319
34. M. Tzetis, M. Kaliakatsos, and M. Fotoulaki Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis Clin Genet 71 2007 451 457
35. S. Keiles, and A. Kammesheidt Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis Pancreas 33 2006 221 227
36. F.U. Weiss, P. Simon, and N. Bogdanova Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls Gut 54 2005 1456 1460
37. P.K. Garg, R. Khajuria, and M. Kabra Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis J Clin Gastroenterol 9 2009 848 852
38. A. Sobczynska-Tomaszewska, D. Bak, and B. Oralewska Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis J Pediatr Gastroenterol Nutr 43 2006 299 306
39. G.G. Gen, A. Llobet, and S. Larriba N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel Hum Mutat 29 2008 738 749
40. J.Y. Choi, D. Muallem, and K. Kiselyov Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis Nature 410 2001 94 97
41. J. Threadgold, W. Greenhalf, and I. Ellis The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease Gut 50 2002 675 681
42. J.W. Welsh, B.W. Ramsey, and F. Accurso Cystic fibrosis C.R. Scriver, A.L. Beaudet, D. Valle, The metabolic and molecular bases of inherited disease 8th ed. 2001 McGraw Hill New York, NY 5121 5188
43. J. Zielenski, and L.C. Tsui Cystic fibrosis: genotypic and phenotypic variations Annu Rev Genet 29 1995 777 807