Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
dc.creator | Tzetis, M. | en |
dc.creator | Kaliakatsos, M. | en |
dc.creator | Fotoulaki, B. | en |
dc.creator | Papatheodorou, A. | en |
dc.creator | Doudounakis, S. | en |
dc.creator | Tsezou, A. | en |
dc.creator | Makrythanasis, P. | en |
dc.creator | Kanavakis, E. | en |
dc.creator | Nousia-arvanitakis, S. | en |
dc.date.accessioned | 2015-11-23T10:52:40Z | |
dc.date.available | 2015-11-23T10:52:40Z | |
dc.date.issued | 2007 | |
dc.identifier | 10.1111/j.1399-0004.2007.00788.x | |
dc.identifier.issn | 99163 | |
dc.identifier.uri | http://hdl.handle.net/11615/34120 | |
dc.description.abstract | Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area and neighboring intronic regions of the three genes were screened. Seventeen of 25 patients (68%) had mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: nine compound heterozygotes with either mild or severe mutations and eight heterozygotes. Four patients (16%) carried CFTR-modulating haplotypes V470-TG11-T5 and V470-TG12-T7. All were negative for PRSS1 gene mutations, while variants c.486C/T and c.738C/T were found in nine patients each, three homozygotes for the minor alleles. Two carried SPINK1 gene mutation p.N34S, one being transheterozygote with CFTR mutation p.F1052V. The promoter variant -253T>C was found in four individuals (one homozygous for the minor allele), all four being transheterozygotes with mutations in the CFTR gene as well. Finally two carried c.272C/T in the 3′ untranslated region, one being a p.N34S carrier as well. In total, 80% (20/25) of patients had a molecular defect in one or both of the CFTR and SPINK1 genes, suggesting that mutations/variants in the CFTR plus or minus mutations in the SPINK1, but not the PRSS1 gene, may confer a high risk for recurrent pancreatitis. © 2007 The Authors Journal compilation © 2007 Blackwell Munksgaard. | en |
dc.source.uri | http://www.scopus.com/inward/record.url?eid=2-s2.0-34248327329&partnerID=40&md5=b5be016d458367d3651893c8448e0c53 | |
dc.subject | CFTR | en |
dc.subject | Chronic pancreatitis | en |
dc.subject | PRSS1 | en |
dc.subject | Recurrent pancreatitis | en |
dc.subject | SPINK1 | en |
dc.subject | aprotinin | en |
dc.subject | transmembrane conductance regulator | en |
dc.subject | trypsinogen | en |
dc.subject | adolescent | en |
dc.subject | adult | en |
dc.subject | article | en |
dc.subject | child | en |
dc.subject | clinical article | en |
dc.subject | controlled study | en |
dc.subject | female | en |
dc.subject | gene mutation | en |
dc.subject | genetic association | en |
dc.subject | genetic screening | en |
dc.subject | genetic variability | en |
dc.subject | Greece | en |
dc.subject | haplotype | en |
dc.subject | heterozygosity | en |
dc.subject | high risk patient | en |
dc.subject | homozygote | en |
dc.subject | human | en |
dc.subject | male | en |
dc.subject | nucleotide sequence | en |
dc.subject | pathophysiology | en |
dc.subject | priority journal | en |
dc.subject | recurrent disease | en |
dc.subject | Carrier Proteins | en |
dc.subject | Case-Control Studies | en |
dc.subject | Child, Preschool | en |
dc.subject | Cystic Fibrosis Transmembrane Conductance Regulator | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Humans | en |
dc.subject | Middle Aged | en |
dc.subject | Mutation | en |
dc.subject | Pancreatitis, Chronic | en |
dc.title | Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis | en |
dc.type | journalArticle | en |
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