Genetic factors in chronic pancreatitis; Implications for diagnosis, management and prognosis

Best Practice and Research: Clinical Gastroenterology

Volumn 24, Issue 3, 2010, Pages 251-270

  Derikx, Monique H M ^a   Drenth, Joost P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CFTR; Chronic pancreatitis; CTRC; Genes; Mutations; PRSS1; PRSS2; SPINK1; Trypsin

Indexed keywords

ACYLTRANSFERASE; ALCOHOL DEHYDROGENASE; ALDEHYDE DEHYDROGENASE; ALPHA 1 ANTITRYPSIN; ALPHA 2 MACROGLOBULIN; ARYLDIALKYLPHOSPHATASE; CALCIUM SENSING RECEPTOR; CATALASE; CATHEPSIN B; CYTOKERATIN 8; EPOXIDE HYDROLASE; GLUTATHIONE TRANSFERASE; HLA ANTIGEN; MANGANESE SUPEROXIDE DISMUTASE; MEMBRANE PROTEIN; PROTEIN PRSS1; PROTEIN SPINK1; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN; TRYPSINOGEN; UNCLASSIFIED DRUG;

ALCOHOLIC PANCREATITIS; CHRONIC PANCREATITIS; CLINICAL PRACTICE; COPY NUMBER VARIATION; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; IDIOPATHIC DISEASE; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PANCREATITIS; PROGNOSIS; PSEUDOGENE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TROPICAL PANCREATITIS; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; MUTATION; PATIENT SELECTION; PERSONALIZED MEDICINE; PHENOTYPE; PREDICTION AND FORECASTING; RISK FACTOR; TREATMENT OUTCOME;

GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INDIVIDUALIZED MEDICINE; MUTATION; PANCREATITIS, CHRONIC; PATIENT SELECTION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RISK FACTORS; TREATMENT OUTCOME;

EID: 77956211286     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2010.02.001     Document Type: Article

References (124)

1. M.W. Comfort, and A.G. Steinberg Pedigree of a family with hereditary chronic relapsing pancreatitis Gastroenterology 21 1 1952 May 54 63
2. B.L. Le, J.D. Bignon, O. Raguenes, B. Mercier, T. Georgelin, and M. Schnee The hereditary pancreatitis gene maps to long arm of chromosome 7 Hum Mol Genet 5 4 1996 Apr 549 554
3. A. Pandya, S.H. Blanton, B. Landa, R. Javaheri, E. Melvin, and W.E. Nance Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q Genomics 38 2 1996 Dec 1 227 230
4. D.C. Whitcomb, R.A. Preston, C.E. Aston, M.J. Sossenheimer, P.S. Barua, and Y. Zhang A gene for hereditary pancreatitis maps to chromosome 7q35 Gastroenterology 110 6 1996 Jun 1975 1980
5. L. Rowen, B.F. Koop, and L. Hood The complete 685-kilobase DNA sequence of the human beta T cell receptor locus Science 272 5269 1996 Jun 21 1755 1762
6. D.C. Whitcomb, M.C. Gorry, R.A. Preston, W. Furey, M.J. Sossenheimer, and C.D. Ulrich Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene Nat Genet 14 2 1996 Oct 141 145
7. M.C. Gorry, D. Gabbaizedeh, W. Furey, L.K. Gates Jr., R.A. Preston, and C.E. Aston Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis Gastroenterology 113 4 1997 Oct 1063 1068
8. N. Teich, J. Mossner, and V. Keim Mutations of the cationic trypsinogen in hereditary pancreatitis Hum Mutat 12 1 1998 39 43
9. C. Ferec, O. Raguenes, R. Salomon, C. Roche, J.P. Bernard, and M. Guillot Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis J Med Genet 36 3 1999 Mar 228 232 (Pubitemid 29110455)
10. J.M. Chen, B. Mercier, M.P. Audrezet, and C. Ferec Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis J Med Genet 37 1 2000 Jan 67 69
11. H. Witt, W. Luck, H.C. Hennies, M. Classen, A. Kage, and U. Lass Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis Nat Genet 25 2 2000 Jun 213 216
12. R.H. Pfutzer, M.M. Barmada, A.P. Brunskill, R. Finch, P.S. Hart, and J. Neoptolemos SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis Gastroenterology 119 3 2000 Sep 615 623
13. H. Witt, W. Luck, M. Becker, M. Bohmig, A. Kage, and K. Truninger Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis JAMA 285 21 2001 Jun 6 2716 2717
14. G.R. Chandak, M.M. Idris, D.N. Reddy, S. Bhaskar, P.V. Sriram, and L. Singh 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 39 5 2002 May 347 351
15. E. Bhatia, G. Choudhuri, S.S. Sikora, O. Landt, A. Kage, and M. Becker Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations Gastroenterology 123 4 2002 Oct 1020 1025
16. R. Szmola, M. Sahin-Toth, and C. Chymotrypsin (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme Y Proc Natl Acad Sci U S A 104 27 2007 Jul 3 11227 11232
17. E. Masson, J.M. Chen, V. Scotet, M.C. Le, and C. Ferec Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis Hum Genet 123 1 2008 Feb 83 91
18. J. Rosendahl, H. Witt, R. Szmola, E. Bhatia, B. Ozsvari, and O. Landt Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis Nat Genet 40 1 2008 Jan 78 82
19. J.M. Chen, M.P. Audrezet, B. Mercier, I. Quere, and C. Ferec Exclusion of anionic trypsinogen and mesotrypsinogen involvement in hereditary pancreatitis without cationic trypsinogen gene mutations Scand J Gastroenterol 34 8 1999 Aug 831 832 (Pubitemid 29434501)
20. M.M. Idris, S. Bhaskar, D.N. Reddy, K.R. Mani, G.V. Rao, and L. Singh Mutations in anionic trypsinogen gene are not associated with tropical calcific pancreatitis Gut 54 5 2005 May 728 729
21. H. Witt, M. Sahin-Toth, O. Landt, J.M. Chen, T. Kahne, and J.P. Drenth A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis Nat Genet 38 6 2006 Jun 668 673
22. J.A. Cohn, K.J. Friedman, P.G. Noone, M.R. Knowles, L.M. Silverman, and P.S. Jowell Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis N Engl J Med 339 10 1998 Sep 3 653 658
23. N. Sharer, M. Schwarz, G. Malone, A. Howarth, J. Painter, and M. Super Mutations of the cystic fibrosis gene in patients with chronic pancreatitis N Engl J Med 339 10 1998 Sep 3 645 652
24. V. Rebours, M.C. Boutron-Ruault, M. Schnee, C. Ferec, M.C. Le, and O. Hentic The natural history of hereditary pancreatitis: a national series Gut 58 1 2009 Jan 97 103
25. J.M. Chen, O. Raguenes, C. Ferec, P.H. Deprez, and C. Verellen-Dumoulin A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis J Med Genet 37 11 2000 Nov E36
26. N. Howes, W. Greenhalf, S. Rutherford, M. O'Donnell, R. Mountford, and I. Ellis A new polymorphism for the RI22H mutation in hereditary pancreatitis Gut 48 2 2001 Feb 247 250
27. N. Howes, M.M. Lerch, W. Greenhalf, D.D. Stocken, I. Ellis, and P. Simon Clinical and genetic characteristics of hereditary pancreatitis in Europe Clin Gastroenterol Hepatol 2 3 2004 Mar 252 261
28. M.C. Le, J.M. Chen, I. Quere, O. Raguenes, C. Ferec, and J. Auroux Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography BMC Genet 2 2001 19
29. R. Pfutzer, E. Myers, S. pplebaum-Shapiro, R. Finch, I. Ellis, and J. Neoptolemos Novel cationic trypsinogen (PRSS1) N29 T and R122C mutations cause autosomal dominant hereditary pancreatitis Gut 50 2 2002 Feb 271 272
30. P. Simon, F.U. Weiss, M. Sahin-Toth, M. Parry, O. Nayler, and B. Lenfers Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 -> Cys) that alters autoactivation and autodegradation of cationic trypsinogen J Biol Chem 277 7 2002 Feb 15 5404 5410
31. C.J. Grocock, V. Rebours, M. Delhaye, A. ndren-Sandberg, F.U. Weiss, and R. Mountford The variable phenotype of the p.A16 V mutation of cationic trypsinogen (PRSS1) in pancreatitis families Gut 2009 Dec 1
32. H. Witt, W. Luck, and M. Becker A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis Gastroenterology 117 1 1999 Jul 7 10
33. N. Teich, J. Ockenga, A. Hoffmeister, M. Manns, J. Mossner, and V. Keim Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation Gastroenterology 119 2 2000 Aug 461 465
34. N. Teich, M.C. Le, Z. Kukor, K. Caca, H. Witzigmann, and J.M. Chen Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79 K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) Hum Mutat 23 1 2004 Jan 22 31
35. M.C. Le, E. Masson, J.M. Chen, F. Morel, P. Ruszniewski, and P. Levy Hereditary pancreatitis caused by triplication of the trypsinogen locus Nat Genet 38 12 2006 Dec 1372 1374
36. E. Masson, M.C. Le, R. Delcenserie, J.M. Chen, and C. Ferec Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation Hum Genet 123 5 2008 Jun 521 529
37. Q.C. Liu, F. Gao, Q.S. Ou, Z.H. Zhuang, S.R. Lin, and B. Yang Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis Chin Med J (Engl) 121 2 2008 Jan 20 108 111
38. P. Felderbauer, J. Schnekenburger, R. Lebert, K. Bulut, M. Parry, and T. Meister A novel A121 T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site J Med Genet 45 8 2008 Aug 507 512
39. J.M. Chen, M.C. Le, D. Lucas, O. Raguenes, and C. Ferec "Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis Mol Genet Metab 79 1 2003 May 67 70
40. Z. Kukor, M. Toth, and M. Sahin-Toth Human anionic trypsinogen: properties of autocatalytic activation and degradation and implications in pancreatic diseases Eur J Biochem 270 9 2003 May 2047 2058
41. S. Santhosh, H. Witt, R.H. te Morsche, Z. Nemoda, T. Molnar, and A. Pap A loss of function polymorphism (G191R) of anionic trypsinogen (PRSS2) confers protection against chronic pancreatitis Pancreas 36 3 2008 Apr 317 320
42. G.R. Chandak, M.M. Idris, D.N. Reddy, K.R. Mani, S. Bhaskar, and G.V. Rao Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis Gut 53 5 2004 May 723 728
43. M.C. Le, J.M. Chen, G.C. Le, G. Plessis, J. Chipponi, and N.A. Chuzhanova Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis Hum Mutat 23 2 2004 Feb 205
44. J. Threadgold, W. Greenhalf, I. Ellis, N. Howes, M.M. Lerch, and P. Simon The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease Gut 50 5 2002 May 675 681
45. J.P. Drenth, M.R. te, and J.B. Jansen Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis Gut 50 5 2002 May 687 692
46. M. Ravnik-Glavac, D. Glavac, A.P. di Sant', M. Chernick, and M. Dean Cystic fibrosis gene mutations detected in hereditary pancreatitis Pflugers Arch 431 Suppl. 2 1996 R191 R192
47. A. Schneider, S. Togel, M.M. Barmada, and D.C. Whitcomb Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis J Gastroenterol 39 8 2004 Aug 783 787
48. J. Keller, and P. Layer Idiopathic chronic pancreatitis Best Pract Res Clin Gastroenterol 22 1 2008 105 113
49. E. Aoun, C.C. Chang, J.B. Greer, G.I. Papachristou, M.M. Barmada, and D.C. Whitcomb Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis PLoS One 3 4 2008 e2003
50. A. Boulling, M.C. Le, P. Trouve, O. Raguenes, J.M. Chen, and C. Ferec Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene Eur J Hum Genet 15 9 2007 Sep 936 942
51. H. Rinderknecht, N.F. Adham, I.G. Renner, and C. Carmack A possible zymogen self-destruct mechanism preventing pancreatic autodigestion Int J Pancreatol 3 1 1988 Jan 33 44
52. J.R. Riordan, J.M. Rommens, B. Kerem, N. Alon, R. Rozmahel, and Z. Grzelczak Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 4922 1989 Sep 8 1066 1073 (Pubitemid 19231814)
53. P.G. Noone, Z. Zhou, L.M. Silverman, P.S. Jowell, M.R. Knowles, and J.A. Cohn Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations Gastroenterology 121 6 2001 Dec 1310 1319
54. M.P. Audrezet, J.M. Chen, M.C. Le, P. Ruszniewski, M. Robaszkiewicz, and O. Raguenes Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis Eur J Hum Genet 10 2 2002 Feb 100 106
55. J. Creighton, R. Lyall, D.I. Wilson, A. Curtis, and R. Charnley Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis Lancet 354 9172 1999 Jul 3 42 43 (Pubitemid 29304303)
56. J.M. Chen, B.A. Piepoli, B.L. Le, P. Ruszniewski, M. Robaszkiewicz, and P.H. Deprez Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis Clin Genet 59 3 2001 Mar 189 193
57. L. Rossi, D.C. Whitcomb, G.D. Ehrlich, M.C. Gorry, S. Parvin, and S. Sattar Lack of R117H mutation in the cationic trypsinogen gene in patients with tropical pancreatitis from Bangladesh Pancreas 17 3 1998 Oct 278 280
58. L. Rossi, R.H. Pfutzer, S. Parvin, L. Ali, S. Sattar, and A.K. Kahn SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report Pancreatology 1 3 2001 242 245
59. A. Schneider, A. Suman, L. Rossi, M.M. Barmada, C. Beglinger, and S. Parvin SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh Gastroenterology 123 4 2002 Oct 1026 1030
60. M.H. Derikx, R. Szmola, R.H. te Morsche, S. Sunderasan, A. Chacko, and J.P. Drenth Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants Eur J Gastroenterol Hepatol 21 8 2009 Aug 889 894
61. E. Bhatia, P. Durie, J. Zielenski, D. Lam, S.S. Sikora, and G. Choudhuri Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis Am J Gastroenterol 95 12 2000 Dec 3658 3659
62. R.W. Ammann The natural history of alcoholic chronic pancreatitis Intern Med 40 5 2001 May 368 375
63. F. Perri, A. Piepoli, P. Stanziale, A. Merla, L. Zelante, and A. Andriulli Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis Eur J Hum Genet 11 9 2003 Sep 687 692
64. K.G. Monaghan, C.E. Jackson, D.L. KuKuruga, and G.L. Feldman Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis Am J Med Genet 94 2 2000 Sep 11 120 124
65. K. Truninger, J. Kock, H.P. Wirth, B. Muellhaupt, C. Arnold, and W.F. von Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis Pancreas 22 1 2001 Jan 18 23 (Pubitemid 32046209)
66. A. Schneider, R.H. Pfutzer, M.M. Barmada, A. Slivka, J. Martin, and D.C. Whitcomb Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States Dig Dis Sci 48 6 2003 Jun 1110 1115
67. N. Malats, T. Casals, M. Porta, L. Guarner, X. Estivill, and F.X. Real Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group Gut 48 1 2001 Jan 70 74
68. I.D. Norton, M.V. Apte, H. Dixson, R.J. Trent, P.S. Haber, and R.C. Pirola Cystic fibrosis genotypes and alcoholic pancreatitis J Gastroenterol Hepatol 13 5 1998 May 496 499
69. P.S. Haber, M.D. Norris, M.V. Apte, S.C. Rodgers, I.D. Norton, and R.C. Pirola Alcoholic pancreatitis and polymorphisms of the variable length polythymidine tract in the cystic fibrosis gene Alcohol Clin Exp Res 23 3 1999 Mar 509 512
70. K. Truninger, N. Malik, R.W. Ammann, B. Muellhaupt, B. Seifert, and H.J. Muller Mutations of the cystic fibrosis gene in patients with chronic pancreatitis Am J Gastroenterol 96 9 2001 Sep 2657 2661
71. R.V. Burim, R. Canalle, A.L. Martinelli, and C.S. Takahashi Polymorphisms in glutathione S-transferases GSTM1, GSTT1 and GSTP1 and cytochromes P450 CYP2E1 and CYP1A1 and susceptibility to cirrhosis or pancreatitis in alcoholics Mutagenesis 19 4 2004 Jul 291 298
72. K. Maruyama, S. Harada, A. Yokoyama, S. Naruse, M. Hirota, and I. Nishimori Association analysis among polymorphisms of the various genes and chronic alcoholic pancreatitis J Gastroenterol Hepatol 23 Suppl. 1 2008 Mar S69 S72
73. J. Ockenga, A. Vogel, N. Teich, V. Keim, M.P. Manns, and C.P. Strassburg UDP glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer Gastroenterology 124 7 2003 Jun 1802 1808
74. A. Frenzer, W.J. Butler, I.D. Norton, J.S. Wilson, M.V. Apte, and R.C. Pirola Polymorphism in alcohol-metabolizing enzymes, glutathione S-transferases and apolipoprotein E and susceptibility to alcohol-induced cirrhosis and chronic pancreatitis J Gastroenterol Hepatol 17 2 2002 Feb 177 182
75. B. Yang, D.A. O'Reilly, A.G. Demaine, and A.N. Kingsnorth Study of polymorphisms in the CYP2E1 gene in patients with alcoholic pancreatitis Alcohol 23 2 2001 Feb 91 97
76. K. Maruyama, S. Harada, A. Yokoyama, S. Mizukami, S. Naruse, and M. Hirota Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan Alcohol Clin Exp Res 2008 Oct 30
77. S. Kimura, Y. Okabayashi, K. Inushima, T. Kochi, Y. Yutsudo, and M. Kasuga Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis Dig Dis Sci 45 10 2000 Oct 2013 2017
78. M. Verlaan, R.H. te Morsche, H.M. Roelofs, R.J. Laheij, J.B. Jansen, and W.H. Peters Genetic polymorphisms in alcohol-metabolizing enzymes and chronic pancreatitis Alcohol Alcohol 39 1 2004 Jan 20 24
79. M. Verlaan, R.H. te Morsche, H.M. Roelofs, R.J. Laheij, J.B. Jansen, and W.H. Peters Glutathione S-transferase Mu null genotype affords protection against alcohol induced chronic pancreatitis Am J Med Genet A 120A 1 2003 Jul 1 34 39
80. M. Verlaan, J.P. Drenth, K. Truninger, M. Koudova, H.U. Schulz, and M. Bargetzi Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases J Med Genet 42 10 2005 Oct e62
81. J. Ockenga, S. Strunck, C. Post, H.U. Schulz, J. Halangk, and R.H. Pfutzer The role of epoxide hydrolase Y113H gene variant in pancreatic diseases Pancreas 38 4 2009 May e97 e101
82. C.H. Osterreicher, J. Schultheiss, M. Wehler, N. Homann, C. Hellerbrand, and B. Kunzli Genetic polymorphisms of manganese-superoxide dismutase and glutathione-S-transferase in chronic alcoholic pancreatitis Mutagenesis 22 5 2007 Sep 305 310
83. S.H. Rahman, C. Nanny, K. Ibrahim, D. O'Reilly, M. Larvin, and A.J. Kingsnorth Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress and impaired antioxidant capacity Dig Dis Sci 50 7 2005 Jul 1376 1383
84. M. Verlaan, E.G. Harbers, A. Pap, J.B. Jansen, W.H. Peters, and J.P. Drenth Paraoxonase 1-192Q allele is a risk factor for idiopathic chronic pancreatitis Mol Diagn 9 1 2005 9 15
85. K. Miyasaka, M. Ohta, S. Takano, H. Hayashi, S. Higuchi, and K. Maruyama Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis Pancreas 30 4 2005 May e87 e91
86. J.S. Wilson, D. Gossat, A. Tait, S. Rouse, X.J. Juan, and R.C. Pirola Evidence for an inherited predisposition to alcoholic pancreatitis. A controlled HLA typing study Dig Dis Sci 29 8 1984 Aug 727 730
87. A.R. de, M.O. Fonseca, and G.P. Teixeira HLA and chronic alcoholic pancreatitis. A meta-analysis Arq Gastroenterol 30 1 1993 Jan 38 42
88. K. Kitahara, S. Kawa, Y. Katsuyama, T. Umemura, Y. Ozaki, and M. Takayama Microsatellite scan identifies new candidate genes for susceptibility to alcoholic chronic pancreatitis in Japanese patients Dis Markers 25 3 2008 175 180
89. P. Felderbauer, P. Hoffmann, H. Einwachter, K. Bulut, N. Ansorge, and F. Schmitz A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations BMC Gastroenterol 3 2003 Nov 29 34
90. P. Felderbauer, W. Klein, K. Bulut, N. Ansorge, G. Dekomien, and I. Werner Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis? Scand J Gastroenterol 41 3 2006 Mar 343 348
91. E.E. Murugaian, R.M. Premkumar, L. Radhakrishnan, and B. Vallath Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India Scand J Gastroenterol 43 1 2008 Jan 117 121
92. M.L. Casanova, A. Bravo, A. Ramirez, E.G. Morreale de, F. Were, and G. Merlino Exocrine pancreatic disorders in transsgenic mice expressing human keratin 8 J Clin Invest 103 11 1999 Jun 1587 1595
93. G.M. Cavestro, L. Frulloni, A. Nouvenne, T.M. Neri, B. Calore, and B. Ferri Association of keratin 8 gene mutation with chronic pancreatitis Dig Liver Dis 35 6 2003 Jun 416 420 (Pubitemid 41070456)
94. M. Treiber, H.U. Schulz, O. Landt, J.P. Drenth, C. Castellani, and F.X. Real Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer J Mol Med 84 12 2006 Dec 1015 1022
95. B.H. Novis, G.O. Young, S. Bank, and I.N. Marks Chronic pancreatitis and alpha-1-antitrypsin Lancet 2 7938 1975 Oct 18 748 749
96. H. Witt, A. Kage, W. Luck, and M. Becker Alpha1-antitrypsin genotypes in patients with chronic pancreatitis Scand J Gastroenterol 37 3 2002 Mar 356 359
97. P. Haber, J. Wilson, M. Apte, M. Korsten, and R. Pirola Individual susceptibility to alcoholic pancreatitis: still an enigma J Lab Clin Med 125 3 1995 Mar 305 312
98. N. Teich, K. Walther, H. Bodeker, J. Mossner, and V. Keim Relevance of variants in serum antiproteinases for the course of chronic pancreatitis Scand J Gastroenterol 37 3 2002 Mar 360 365
99. S. Mahurkar, M.M. Idris, D.N. Reddy, S. Bhaskar, G.V. Rao, and V. Thomas Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis Gut 55 9 2006 Sep 1270 1275
100. F.U. Weiss, C.O. Behn, P. Simon, M. Ruthenburger, W. Halangk, and M.M. Lerch Cathepsin B gene polymorphism Val26 is not associated with idiopathic chronic pancreatitis in European patients Gut 56 9 2007 Sep 1322 1323
101. A.B. Lowenfels, P. Maisonneuve, E.P. Dimagno, Y. Elitsur, L.K. Gates Jr., and J. Perrault Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group J Natl Cancer Inst 89 6 1997 Mar 19 442 446
102. A.B. Lowenfels, P. Maisonneuve, D.C. Whitcomb, M.M. Lerch, and E.P. Dimagno Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis JAMA 286 2 2001 Jul 11 169 170
103. J.M. Chen, and C. Ferec Genes, cloned cDNAs, and proteins of human trypsinogens and pancreatitis-associated cationic trypsinogen mutations Pancreas 21 1 2000 Jul 57 62
104. M. Sahin-Toth, and M. Toth Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen Biochem Biophys Res Commun 278 2 2000 Nov 19 286 289
105. H. Archer, N. Jura, J. Keller, M. Jacobson, and D. Bar-Sagi A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen Gastroenterology 131 6 2006 Dec 1844 1855
106. E. Kereszturi, R. Szmola, Z. Kukor, P. Simon, F.U. Weiss, and M.M. Lerch Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism Hum Mutat 30 4 2009 Apr 575 582
107. D.C. Whitcomb Hereditary pancreatitis: new insights into acute and chronic pancreatitis Gut 45 3 1999 Sep 317 322
108. M. Sahin-Toth Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis J Biol Chem 275 30 2000 Jul 28 22750 22755
109. J.M. Chen, Z. Kukor, M.C. Le, M. Toth, L. Tsakiris, and O. Raguenes Evolution of trypsinogen activation peptides Mol Biol Evol 20 11 2003 Nov 1767 1777
110. Z. Nemoda, M. Sahin-Toth, and C. Chymotrypsin (caldecrin) stimulates autoactivation of human cationic trypsinogen J Biol Chem 281 17 2006 Apr 28 11879 11886 (Pubitemid 43855449)
111. O. Kiraly, T. Wartmann, and M. Sahin-Toth Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation Gut 56 10 2007 Oct 1433 1438
112. D.A. Cano, S. Sekine, and M. Hebrok Primary cilia deletion in pancreatic epithelial cells results in cyst formation and pancreatitis Gastroenterology 131 6 2006 Dec 1856 1869
113. N. Oruc, J. Lamb, O.C. Kutlu, M.M. Barmada, M.E. Money, and A. Slivka The functional angiotensin converting enzyme gene I/D polymorphism does not alter susceptibility to chronic pancreatitis JOP 5 6 2004 Nov 457 463
114. S. Bhaskar, D.N. Reddy, S. Mahurkar, G.V. Rao, L. Singh, and G.R. Chandak Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis BMC Gastroenterol 6 2006 42
115. W.M. Howell, P.J. Pead, F.W. Shek, M.J. Rose-Zerilli, T. Armstrong, and C.D. Johnson Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis J Clin Pathol 58 6 2005 Jun 595 599
116. K. Bohm, N. Teich, A. Hoffmeister, J. Mossner, V. Keim, and H. Bodeker Transforming growth factor-beta-1 variants are not associated with chronic nonalcoholic pancreatitis Pancreatology 5 1 2005 75 80
117. H. Beranek, N. Teich, H. Witt, H.U. Schulz, J. Mossner, and V. Keim Analysis of tumour necrosis factor alpha and interleukin 10 promotor variants in patients with chronic pancreatitis Eur J Gastroenterol Hepatol 15 11 2003 Nov 1223 1227
118. S.H. Lee, J.K. Ryu, J.B. Jeong, K.Y. Lee, S.M. Woo, and J.K. Park Polymorphisms of the MCP-1 and HSP70-2 genes in Korean patients with alcoholic chronic pancreatitis Dig Dis Sci 53 6 2008 Jun 1721 1727
119. T. Hucl, M.L. Kylanpaa-Back, H. Witt, B. Kunzli, M. Lempinen, and A. Schneider HFE genotypes in patients with chronic pancreatitis and pancreatic adenocarcinoma Genet Med 9 7 2007 Jul 479 483
120. E. Masson, M.C. Le, J.M. Chen, and C. Ferec Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitis Pancreas 37 2 2008 Aug 227 228
121. Z. Nemoda, N. Teich, C. Hugenberg, and M. Sahin-Toth Genetic and biochemical characterization of the E32del polymorphism in human mesotrypsinogen Pancreatology 5 2-3 2005 273 278
122. V. Keim, A. Hoffmeister, N. Teich, U. Halm, M. Scheurlen, and A. Tannapfel The pancreatitis-associated protein in hereditary and chronic alcoholic pancreatitis Pancreas 19 3 1999 Oct 248 254
123. S. Mahurkar, S. Bhaskar, D.N. Reddy, G.V. Rao, and G.R. Chandak Comprehensive screening for reg1alpha gene rules out association with tropical calcific pancreatitis World J Gastroenterol 13 44 2007 Nov 28 5938 5943
124. K. Hawrami, V. Mohan, A. Bone, and G.A. Hitman Analysis of islet regenerating (reg) gene polymorphisms in fibrocalculous pancreatic diabetes Pancreas 14 2 1997 Mar 122 125