Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis

Gastroenterology

Volumn 140, Issue 1, 2011, Pages 153-161

  Ooi, Chee Y ^a,d   Dorfman, Ruslan ^a   Cipolli, Marco ^e   Gonska, Tanja ^a,d   Castellani, Carlo ^e   Keenan, Katherine ^a   Freedman, Steven D ^f   Zielenski, Julian ^a   Berthiaume, Yves ^g   Corey, Mary ^b,d   Schibli, Susanne ^h   Tullis, Elizabeth ^c,i   Durie, Peter R ^a,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY HOSPITAL OF VERONA   (Italy)

^f HARVARD MEDICAL SCHOOL   (United States)

^g CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^h UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

ⁱ ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

Genetics; Lung Disease; Modifier; Pancreas

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGE DISTRIBUTION; ARTICLE; CHILD; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PANCREAS FUNCTION; PANCREAS INSUFFICIENCY; PANCREATITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM;

EID: 78650477795     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2010.09.046     Document Type: Article

References (45)

1. J.R. Riordan, J.M. Rommens, and B. Kerem Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 1989 1066 1073 (Pubitemid 19231814)
2. P.M. Farrell, B.J. Rosenstein, and T.B. White Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report J Pediatr 153 2008 S4 S14
3. P. Kristidis, D. Bozon, and M. Corey Genetic determination of exocrine pancreatic function in cystic fibrosis Am J Hum Genet 50 1992 1178 1184
4. N. Ahmed, M. Corey, and G. Forstner Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas Gut 52 2003 1159 1164
5. C. Durno, M. Corey, and J. Zielenski Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis Gastroenterology 123 2002 1857 1864
6. A. Augarten, A. Ben 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
7. H. Shwachman, E. Lebenthal, and W. Khaw Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes Pediatrics 55 1975 86 94
8. J.R. Imrie, D.G. Fagan, and J.M. Sturgess Quantitative evaluation of the development of the exocrine pancreas in cystic fibrosis and control infants Am J Pathol 95 1979 697 707
9. R.T. Couper, M. Corey, and P.R. Durie Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosis J Pediatr 127 1995 408 413
10. K. De Boeck, M. Weren, and M. Proesmans Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype Pediatrics 115 2005 463 469
11. C. Castellani, H. Cuppens, and M. Macek Jr Consensus on the use and clinical interpretation of cystic fibrosis mutation analysis in clinical practice J Cyst Fibros 7 2008 179 196
12. N. Sharer, M. Schwarz, and G. Malone Mutations of the cystic fibrosis gene in patients with chronic pancreatitis N Engl J Med 339 1998 645 652
13. J.A. Cohn, K.J. Friedman, and P.G. Noone Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis N Engl J Med 339 1998 653 658
14. 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
15. 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
16. C. Castellani, M. Gomez Lira, and L. Frulloni Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis Hum Mutat 18 2001 166
17. M.D. Bishop, S.D. Freedman, and J. Zielenski The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis Hum Genet 118 2005 372 381
18. R. Dorfman, T. Nalpathamkalam, and C. Taylor Do in silico tools predict the clinical consequences of amino acid substitutions in the CFTR gene? Clin Genet 77 2010 464 473
19. C. Taylor, M. Corey, and J. Breaton The Canadian CF Modifier Gene Project: a nationally representative DNA and phenotype resource Pediatr Pulmonol 29 Suppl 2006 362
20. C. Castellani, L. Picci, and A. Tamanini Association between carrier screening and incidence of cystic fibrosis JAMA 302 2009 2573 2579
21. R. Pezilli, G. Uomo, and A. Zerbi Diagnosis and treatment of acute pancreatitis: the position statement of the Italian Association for the study of pancreas Dig Liver Dis 41 2008 803 808
22. H.H. Van de Kamer, H. Huinick, and H.A. Weyers Rapid method for determination of fat in feces J Biol Chem 177 1949 347 351
23. K.N. Jeejeebhoy, S. Ahmed, and G. Kozak Determination of faecal fats containing both medium- and long-chain triglycerides and fatty acids Clin Biochem 3 1970 157 163
24. C. Loser, A. Mollgaard, and U.R. Folsch Faecal elastase 1: a novel, highly sensitive, and specific tubeless pancreatic function test Gut 39 1996 580 586
25. H.K. Durr, M. Otte, and M.M. Forell Fecal chymotroypsin: a study on its diagnostic value by comparison with the secretin-cholecystokinin test Digestion 17 1978 404 409
26. M.C. Geokas, D. Largman, and J.W. Brodick Determination of human pancreatic cationic trypsinogen in serum by radioimmunoassay Am J Physiol 236 1979 E77 E83
27. P.R. Durie, G.G. Forstner, and J.K. Gaskin Age-related alterations of immunoreactive pancreatic cationic trypsinogen in sera from cystic fibrosis patients with and without pancreatic insufficiency Pediatr Res 20 1986 209 213
28. N.W. Tietz, A. Burlina, and W. Gerhardt Multicenter evaluation of a specific pancreatic isoamylase assay based on a double monoclonal-antibody technique Clin Chem 34 1988 2096 2112
29. K.J. Gaskin, P.R. Durie, and M. Corey Evidence for a primary defect of pancreatic HCO3-secretion in cystic fibrosis Pediatr Res 16 1982 554 557
30. H. Kopleman, M. Corey, and K. Gaskin Impaired chloride secretion as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas Gastroenterology 95 1988 349 355
31. J. Zielenski, I. Aznarez, and T. Onay CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel Methods Mol Med 70 2002 3 19
32. M. Krypuy, A.A. Ahmed, and D. Etemadmoghadam High resolution melting for mutation scanning of TP53 exons 5-8 BMC Cancer 7 2007 168
33. C. Frec, T. Casals, and N. Chuzhanova Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms Eur J Hum Genet 14 2006 567 576
34. M.P. Audrezet, J.M. Chen, and O. Raguenes Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms Hum Mutat 23 2004 343 357
35. F.M. Hantash, A. Milunsky, and Z. Wang A large deletion in the CFTR gene in CBAVD Genet Med 8 2006 93 95
36. F.M. Hantash, J.B. Redman, and K. Starn Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening Hum Genet 119 2006 126 136
37. C. Le Marechal, M.P. Audrezet, and I. Quere Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling Hum Genet 108 2001 290 298
38. J.L. Hankinson, J.R. Odencrantz, and K.B. Fedan Spirometric reference values from a sample of the general U.S. population Am J Respir Crit Care Med 159 1999 179 187
39. C. Castellani, M. Macek, and J.-J. Cassiman Benchmarks for cystic fibrosis screening: a European consensus document J Cyst Fibros 9 2010 165 178
40. D. Yadav, and A.B. Lowenfels Trends in the epidemiology of the first attack of acute pancreatitis: a systematic review Pancreas 33 2006 323 330
41. K. Giljam, L. Ellis, and M. Corey Clinical manifestations of cystic fibrosis among patients diagnosed in adulthood Chest 126 2004 1215 1224
42. M. Cipolli, C. Castellani, and B. Wilcken Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening Arch Dis Child 92 2007 842 846
43. R.T. Couper, M. Corey, and D.J. Moore Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency Pediatr Res 32 1992 179 182
44. L.C. Tsui The spectrum of cystic fibrosis mutations Trends Genet 8 1992 392 398
45. C.Y. Ooi, T. Gonska, and P.R. Durie Genetic testing in pancreatitis Gastroenterology 138 2010 2202 2206