Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients

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...

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Vydáno v:	European journal of human genetics : EJHG Ročník 11; číslo 7; s. 543 - 546
Hlavní autoři:	Gomez-Lira, Macarena, Bonamini, Deborah, Castellani, Carlo, Unis, Lorenza, Cavallini, Giorgio, Assael, Baroukh Maurice, Pignatti, Pier Franco
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Cham Springer International Publishing 01.07.2003 Nature Publishing Nature Publishing Group
Témata:	5' Untranslated Regions Adolescent Adult Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Boundaries Child Conductance Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Cystic Fibrosis Transmembrane Conductance Regulator - genetics Cytogenetics Exons Female Fibrosis Gastroenterology Gastroenterology. Liver. Pancreas. Abdomen Gene Expression Genes Genetic Predisposition to Disease Genetics Human Genetics Humans Italy Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Middle Aged Mutation Other diseases. Semiology Pancreatitis Pancreatitis - genetics Proteinase inhibitors Proteins Serine Serine proteinase short-report Statistical analysis Trypsin Trypsin Inhibitor, Kazal Pancreatic - genetics Italy Europe idiopathic pancreatitis gene mutations Human Digestive diseases Mutation Idiopathic Pancreatitis Pancreatic disease
ISSN:	1018-4813, 1476-5438
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Shrnutí:	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).
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	1018-4813 1476-5438
DOI:	10.1038/sj.ejhg.5200989