Keratin 8 mutations are not associated with familial, sporadic and alcoholic pancreatitis in a population from the United States.

Abstract

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.

• Authors: Alexander Schneider, Janette Lamb, M Michael Barmada, Anthony Cuneo, Mary E Money, David C Whitcomb
• Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (Pancreatology) Vol. 6 Issue 1-2 Pg. 103-8 ( 2006) ISSN: 1424-3903 [Print] Switzerland
• PMID: 16327287 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: 2006 S. Karger AG, Basel and IAP

Chemical References

• Codon
• Keratins
• Trypsinogen
• DNA
• PRSS1 protein, human
• Trypsin

Topics

• Adult
• Codon (genetics)
• DNA (genetics)
• Female
• Humans
• Keratins (genetics)
• Male
• Mutation
• Pancreatitis (epidemiology, genetics)
• Pancreatitis, Alcoholic (epidemiology, genetics)
• Phenotype
• Trypsin (genetics)
• Trypsinogen (genetics)
• United States (epidemiology)