HFE genotypes in patients with chronic pancreatitis and pancreatic adenocarcinoma

Genetics in Medicine

Volumn 9, Issue 7, 2007, Pages 479-483

  Hucl, Tomas ^a   Kylanpää Bäck, Marja Leena ^b   Witt, Heiko ^c   Künzli, Beat ^a   Lempinen, Marko ^b   Schneider, Alexander ^a   Kemppainen, Esko ^b   Löhr, Matthias ^a   Friess, Helmut ^a   Ockenga, Johann ^c   Rosendahl, Jonas ^d   Schulz, Hans Ulrich ^e   Gress, Thomas ^f   Singer, Manfred V ^a   Pfützer, Roland H ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF LEIPZIG   (Germany)

^e OTTO VON GUERICKE UNIVERSITY   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Chronic pancreatitis; Genetic analysis; Hemochromatosis; HFE; Pancreatic adenocarcinoma

Indexed keywords

ACUTE PANCREATITIS; ADOLESCENT; ADULT; AGED; ALCOHOLIC PANCREATITIS; ARTICLE; CHILD; CHRONIC PANCREATITIS; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENOTYPE; HEMOCHROMATOSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PANCREAS ADENOCARCINOMA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEGREGATION ANALYSIS;

EID: 34547702300     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3180986df4     Document Type: Article

References (32)

1. Whitcomb DC, Gorry MC, Preston RA, Furey W, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145.
2. Witt H, Luck W, Hennies HC, Classen M, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25 (2):213-216.
3. Pfützer RH, Barmada MM, Brunskill AP, Finch R, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-623.
4. Sharer N, Schwarz M, Malone G, Howarth A, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339 (10):645-652.
5. Cohn JA, Friedman KJ, Noone G, Howarth A, et al. Relations between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339 (10):653-658.
6. Simon P, Zimmer KP, Domschke W, Lerch MM. Hereditary pancreatitis in a family with hemochromatosis (HFE) gene mutations. Digestion 2000;61:266.
7. Adams PC. Review article: the modern diagnosis and management of haemochromatosis. Aliment Pharmacol Ther 2006;23:1681-1691.
8. Beutler E, Felitti VJ, Koziol JA, Ho NJ, et al. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-218.
9. Adams PC, Reboussin DM, Barton JC, McLaren CE, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1678.
10. Dorak MT, Burnett AK, Worwood M. HFE gene mutations in susceptibility to childhood leukemia: HuGE review. Genet Med 2005;7:159-168.
11. Purohit V, Russo D, Salin M. Role of iron in alcoholic liver disease: introduction and summary of the symposium. Alcohol 2003;30:93-97.
12. Simpson RJ, Konijn AM, Lombard M, Raja KB, et al. Tissue iron loading and histopathological changes in hypotransferrinaemic mice. J Pathol 1993;171:237-244.
13. Fletcher LM, Dixon JL, Purdie DM, Powell LW, et al. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 2002;122:281-289.
14. Grove J, Daly AK, Burt AD, Guzail M, et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 1998;43:262-266.
15. Frenzer A, Rudzki Z, Norton ID, Butler WJ, et al. Heterozygosity of the haemochromatosis mutation, C282Y, does not influence susceptibility to alcoholic cirrhosis. Scand J Gastroenterol 1998;33:1324.
16. Thursz M, Mantafounis D, Yallop R. Severe alcoholic liver disease is associated with the haemochromatosis gene mutant. Gastroenterology 1997;112:1401A.
17. George DK, Goldwurm S, MacDonald GA, Cowley LL, et al. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology 1998;114:311-318.
18. Smith BC, Gorve J, Guzail MA, Day CP, et al. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology 1998;27:1695-1699.
19. Bonkovsky HL, Jawaid Q, Tortorelli K, LeClair P, et al. Nonalcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in nonalcoholic steatohepatitis. J Hepatol 1999;31:421-429.
20. Roberts AG, Whatley SD, Morgan RR, Worwood M, et al. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997;349:321-323.
21. Sarner M, Cotton PB. Classification of pancreatitis. Gut 1984;25:756-759.
22. Ammann RW. A clinically based classification system for alcoholic chronic pancreatitis: summary of an international workshop on chronic pancreatitis. Pancreas 1997;14:215-221.
23. Etemad B, Whitcomb DC. Chronic pancreatitis: diagnosis, classification, and new genetic developments. Gastroenterology 2001;120:682-707.
24. Jouanolle AM, Fergelot P, Gandon G, Yaouanq J, et al. A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. Hum Genet 1997;100:544-547.
25. Jeffrey GP, Chakrabarti S, Hegele RA, Adams PC. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemachromatosis. Nat Genet 1999;22:325-326.
26. Mangasser-Stephan K, Tag C, Reiser A, Gressner AM. Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes. Clin Chemistry 1999;45:1875-1878.
27. Terwilliger JD. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 1995;56:777-787.
28. Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, et al. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol 1998;103:842-845.
29. Parkkila S, Niemela O, Savolainen ER, Koistinen P. HFE mutations do not account for transfusional iron overload in patients with acute myeloid leukemia. Transfusion 2001;41:828-831.
30. Pietrangelo A, Trautwein C. Mechanisms of disease: the role of hepcidin in iron homeostasis-implications for hemochromatosis and other disorders. Nat Clin Pract Gastroenterol Hepatol 2004;1:39-45.
31. Beckman LE, Van Landeghem GF, Sikstrom C, Wahlin A, et al. Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis 1999;20:1231-1233.
32. Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 2003;101:3347-3350.