These authors contributed equally to the study.
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
Article first published online: 2 MAY 2007
2007 Blackwell Munksgaard
Volume 71, Issue 5, pages 451–457, May 2007
How to Cite
Tzetis, M., Kaliakatsos, M., Fotoulaki, M., Papatheodorou, A., Doudounakis, S., Tsezou, A., Makrythanasis, P., Kanavakis, E. and Nousia-Arvanitakis, S. (2007), Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. Clinical Genetics, 71: 451–457. doi: 10.1111/j.1399-0004.2007.00788.x
- Issue published online: 2 MAY 2007
- Article first published online: 2 MAY 2007
- Received 31 October 2006, revised and accepted for publication 26 January 2007
- chronic pancreatitis;
- recurrent pancreatitis;
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.