CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort

Mutations in the gene encoding the cystic fibrosis transmembrane regulator (CFTR) are over-represented in patients with chronic pancreatitis: 13-37% of pancreatitis patients are heterozygous for CFTR mutations, compared with the carrier estimate of 3.2% in the central European population. The aim of the current study was to investigate the association between clinical manifestations of pancreatitis and CFTR carrier status.

A cohort of 133 pancreatitis patients was recruited in a confined geographical region (Tyrol-Western Austria) and analysed for the 30 most common CFTR gene mutations in Europe by multiplex PCR and gene sequencing. Pancreatitis was classified as acute or chronic according to the criteria of the Japan Pancreas Society (JPS) and etiological factors included in the TIGAR-O classification, namely toxic, idiopathic, genetic, autoimmune, recurrent and obstructive causes were assessed.

The overall frequency of CFTR mutations in the patient cohort was 11.2%. In patients classified as 'idiopathic definitive chronic pancreatitis' (JPS criteria), the frequency of mutations was 12.7%, whereas patients with 'acute pancreatitis' or 'possible chronic pancreatitis' (JPS criteria) had a frequency of CFTR mutations of 10% and 9.1%, respectively.

The frequency of CFTR mutations is highest in patients with definitive chronic pancreatitis and may therefore be regarded as a risk factor for the development of CP. However, multiple etiological factors for pancreatitis are present in the majority of patients. Mutation analysis of the CFTR gene therefore appears to be of limited diagnostic and prognostic value in the management of chronic pancreatitis.