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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| Published in: | European journal of human genetics : EJHG Vol. 11; no. 7; pp. 543 - 546 |
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| Main Authors: | , , , , , , |
| Format: | Journal Article |
| Language: | English |
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01.07.2003
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| ISSN: | 1018-4813, 1476-5438 |
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| 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). |
|---|---|
| AbstractList | 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). 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). 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).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). |
| Author | Assael, Baroukh Maurice Castellani, Carlo Gomez-Lira, Macarena Bonamini, Deborah Pignatti, Pier Franco Unis, Lorenza Cavallini, Giorgio |
| Author_xml | – sequence: 1 givenname: Macarena surname: Gomez-Lira fullname: Gomez-Lira, Macarena email: macarena.gomez-lira@univr.it organization: Department of Mother and Child, Section of Biology and Genetics, Biology and Genetics, University of Verona – sequence: 2 givenname: Deborah surname: Bonamini fullname: Bonamini, Deborah organization: Department of Mother and Child, Section of Biology and Genetics, Biology and Genetics, University of Verona – sequence: 3 givenname: Carlo surname: Castellani fullname: Castellani, Carlo organization: Cystic Fibrosis Center, Ospedale Civile Maggiore – sequence: 4 givenname: Lorenza surname: Unis fullname: Unis, Lorenza organization: Transfusional Center, Ospedale Bussolengo – sequence: 5 givenname: Giorgio surname: Cavallini fullname: Cavallini, Giorgio organization: Department of Surgical and Gastroenterological Sciences, University of Verona – sequence: 6 givenname: Baroukh Maurice surname: Assael fullname: Assael, Baroukh Maurice organization: Cystic Fibrosis Center, Ospedale Civile Maggiore – sequence: 7 givenname: Pier Franco surname: Pignatti fullname: Pignatti, Pier Franco organization: Department of Mother and Child, Section of Biology and Genetics, Biology and Genetics, University of Verona |
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| Cites_doi | 10.1038/sj.ejhg.5200786 10.1136/jmg.38.4.243 10.1038/ng1193-274 10.1038/76088 10.1053/gast.2000.18017 10.1136/jmg.37.1.67 10.1053/gast.2001.29673 10.1056/NEJM199809033391002 10.1038/ng0293-151 10.1053/gast.2001.23086 10.1056/NEJM199809033391001 10.1086/302928 10.1111/j.1572-0241.1999.01993.x 10.1016/0890-8508(92)90064-5 |
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| DOI | 10.1038/sj.ejhg.5200989 |
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| Keywords | idiopathic pancreatitis gene mutations Human Digestive diseases Mutation Idiopathic Pancreatitis Pancreatic disease |
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| References | H Witt (BF5200989_CR15) 2001; 120 MP Audrézet (BF5200989_CR7) 2002; 2 S Kiesewetter (BF5200989_CR14) 1993; 5 H Witt (BF5200989_CR5) 2000; 825 N Sharer (BF5200989_CR2) 1998; 339 M Gomez-Lira (BF5200989_CR8) 2000; 66 CS Chu (BF5200989_CR13) 1993; 3 JA Cohn (BF5200989_CR1) 1998; 339 P Gasparini (BF5200989_CR10) 1992; 6 PG Noone (BF5200989_CR4) 2001; 121 J Ockenga (BF5200989_CR12) 2001; 38 C Castellani (BF5200989_CR3) 1999; 94 RH Pfützer (BF5200989_CR6) 2000; 119 J-M Chen (BF5200989_CR11) 2000; 37 BF5200989_CR9 |
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| Snippet | Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator (
CFTR... Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)... |
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| SubjectTerms | 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 |
| Title | Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients |
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