BACKGROUND AND AIMS: Genetic predispositions play a major role in the development of chronic pancreatitis. Recently, a mutation in the keratin 8 gene (G62C) was reported to be associated with chronic pancreatitis in Italy. We determined whether mutations in the keratin 8 gene are associated with familial, sporadic and alcoholic recurrent acute or chronic pancreatitis in a population from the United States. METHODS: We investigated the relevant genomic region of the keratin 8 gene in 80 patients with familial pancreatitis without a cationic trypsinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients with alcoholic pancreatitis and 271 controls by direct DNA sequencing. RESULTS: We found the heterozygous G62C mutation in n = 3/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 3/126 patients (2.4%) with sporadic pancreatitis. We detected an adjacent heterozygous I63V mutation in n = 2/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 1/61 patients (1.6%) with alcoholic pancreatitis. We found the G62C mutation in n = 2/271 controls (0.7%) and the I63V mutation in n = 2/271 controls (0.7%). There were no statistically significant differences in the genotype frequencies between patients and controls (p > 0.05). Screening of additional available family members revealed that these variants did not segregate with the disease phenotype. There was no statistically significant difference in the frequency of these keratin 8 variants between patients with chronic pancreatitis and controls (p > 0.05). CONCLUSION: These keratin 8 variants are not associated with familial, sporadic or alcoholic pancreatitis. 2006 S. Karger AG, Basel and IAP
BACKGROUND AND AIMS: Genetic predispositions play a major role in the development of chronic pancreatitis. Recently, a mutation in the keratin 8 gene (G62C) was reported to be associated with chronic pancreatitis in Italy. We determined whether mutations in the keratin 8 gene are associated with familial, sporadic and alcoholic recurrent acute or chronic pancreatitis in a population from the United States. METHODS: We investigated the relevant genomic region of the keratin 8 gene in 80 patients with familial pancreatitis without a cationic trypsinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients with alcoholic pancreatitis and 271 controls by direct DNA sequencing. RESULTS: We found the heterozygous G62C mutation in n = 3/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 3/126 patients (2.4%) with sporadic pancreatitis. We detected an adjacent heterozygous I63V mutation in n = 2/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 1/61 patients (1.6%) with alcoholic pancreatitis. We found the G62C mutation in n = 2/271 controls (0.7%) and the I63V mutation in n = 2/271 controls (0.7%). There were no statistically significant differences in the genotype frequencies between patients and controls (p > 0.05). Screening of additional available family members revealed that these variants did not segregate with the disease phenotype. There was no statistically significant difference in the frequency of these keratin 8 variants between patients with chronic pancreatitis and controls (p > 0.05). CONCLUSION: These keratin 8 variants are not associated with familial, sporadic or alcoholic pancreatitis. 2006 S. Karger AG, Basel and IAP
Authors: Matthias Treiber; Hans-Ulrich Schulz; Olfert Landt; Joost P H Drenth; Carlo Castellani; Francisco X Real; Nejat Akar; Rudolf W Ammann; Mario Bargetzi; Eesh Bhatia; Andrew Glenn Demaine; Cinzia Battagia; Andrew Kingsnorth; Derek O'Reilly; Kaspar Truninger; Monika Koudova; Julius Spicak; Milos Cerny; Hans-Jürgen Menzel; Pedro Moral; Pier Franco Pignatti; Maria Grazia Romanelli; Olga Rickards; Gian Franco De Stefano; Narcis Octavian Zarnescu; Gourdas Choudhuri; Sadiq S Sikora; Jan B M J Jansen; Frank Ulrich Weiss; Matthias Pietschmann; Niels Teich; Thomas M Gress; Johann Ockenga; Hartmut Schmidt; Andreas Kage; Juliane Halangk; Jonas Rosendahl; David Alexander Groneberg; Renate Nickel; Heiko Witt Journal: J Mol Med (Berl) Date: 2006-10-13 Impact factor: 4.599
Authors: Diana M Toivola; Ikuo Nakamichi; Pavel Strnad; Sara A Michie; Nafisa Ghori; Masaru Harada; Karin Zeh; Robert G Oshima; Helene Baribault; M Bishr Omary Journal: Am J Pathol Date: 2008-03-18 Impact factor: 4.307
Authors: David C Whitcomb; Dhiraj Yadav; Slivka Adam; Robert H Hawes; Randall E Brand; Michelle A Anderson; Mary E Money; Peter A Banks; Michele D Bishop; John Baillie; Stuart Sherman; James DiSario; Frank R Burton; Timothy B Gardner; Stephen T Amann; Andres Gelrud; Simon K Lo; Mark T DeMeo; William M Steinberg; Michael L Kochman; Babak Etemad; Christopher E Forsmark; Beth Elinoff; Julia B Greer; Michael O'Connell; Janette Lamb; M Michael Barmada Journal: Pancreatology Date: 2008-09-03 Impact factor: 3.996
Authors: Marek Pastuszak; Krzysztof Groszewski; Małgorzata Pastuszak; Przemysław Dyrla; Stanisław Wojtuń; Jerzy Gil Journal: Prz Gastroenterol Date: 2015-07-01