title: Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.
abstract: Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutations in the serine protease inhibitor Kazal 1 (SPINK1) have been described in some idiopathic chronic patients and it has been suggested that mutations in this gene could be responsible for a loss of trypsin inhibitor function. In this study, the 5'UTR region, and the four exons and exon-intron boundaries of the SPINK1 gene in 32 IP patients have been analyzed. Three IP patients (9.3%) and one control/100 carried the N34S mutation of the SPINK1 gene (Fisher's exact test, P=0.044). No other mutation that could be associated with an altered function of the SPINK1 protein was observed. The N34S mutation was present in two patients who carried the CFTR-IVS8 5T variant and in one who carried the L997F variant in the CFTR gene. The association of SPINK1 with CFTR gene mutations in IP patients is statistically significant (3/32 IP cases and 0/100 control individuals carrying mutations in both genes; Fisher's exact test P=0.01).
authors.affiliation: Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy. macarena.gomez-lira@univr.it
authors.forename: Macarena
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: Deborah
authors.initials: D
authors.lastname: Bonamini
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Lorenza
authors.initials: L
authors.lastname: Unis
authors.forename: Giorgio
authors.initials: G
authors.lastname: Cavallini
authors.forename: Baroukh Maurice
authors.initials: BM
authors.lastname: Assael
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic