Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-08-26

AUTHORS

Francesco Perri, Ada Piepoli, Pietro Stanziale, Antonio Merla, Leopoldo Zelante, Angelo Andriulli

ABSTRACT

Susceptibility to alcoholic chronic pancreatitis (ACP) could be genetically determined. Mutations in cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), and serine protease inhibitor, Kazal type 1 (SPINK1) genes have been variably associated with both the hereditary and the idiopathic form of chronic pancreatitis (CP). Our aim was to analyze the three genes in ACP patients. Mutational screening was performed in 45 unrelated ACP patients and 34 patients with alcoholic liver disease (ALD). No mutation of PRSS1 was found in ACP and ALD patients. Three mutations of CFTR were detected in four ACP patients with a prevalence (8.9%) not significantly different from that observed (3.0%) in ALD patients and from that expected (3.2%) in our geographical area. Neither compound heterozygotes for CFTR nor trans-heterozygotes for CFTR/SPINK1 were found. One ACP patient (2.2%) was found to carry the most common mutation (N34S) of SPINK1 compared to none of the ALD patients (P=NS). In five other patients (two with ACP and three with ALD) other rare variants, including P55S, were found. In contrast with the hereditary and the idiopathic forms of CP, in which mutations of PRSS1, CFTR, and SPINK1 genes may occur, ACP is still a ‘gene(s)-orphan’ disease. The supposed genetic susceptibility to ACP relies on other yet unknown gene(s) which could affect the alcohol metabolism or modulate the pancreatic inflammatory response to alcohol abuse. More... »

PAGES

687-692

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201035

DOI

http://dx.doi.org/10.1038/sj.ejhg.5201035

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1044313049

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12939655


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