Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis?

Teresa Casals, Luís Aparisi, Cecilia Martínez-Costa, Javier Giménez, Maria D. Ramos, Josefina Mora, Juan Diaz, Jaume Boadas, Xavier P. Estivill, Antoni Farré

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Objective: Cystic fibrosis transmembrane conductance regulator (CFTR) mutations are responsible for cystic fibrosis (CF) and have been postulated as a predisposing risk factor to chronic pancreatitis (CP), but controversial results demand additional support. We have therefore investigated the role of the CFTR gene in a cohort of 68 CP patients. Methods: We have performed the CFTR gene analysis using 2 screening techniques. Fragments showing abnormal migration patterns were characterized by sequencing. Patients were classified in alcoholic (ACP) (n = 37) and idiopathic (ICP) (n = 31) chronic pancreatitis. Clinical features of CP and CF were evaluated. Results: Sixteen mutations/variants were identified in 27 patients (40%), most of them (35%) presenting a single CFTR mutant gene. The 1716G/A variant showed the highest frequency accounting for 22% in ICP and 5% in ACP, in contrast with other more common mutations such as F508del found in 8% of ACP and the 5T variant identified in 7% of patients. Acute pancreatitis, abdominal pain, tobacco, pancreatic calcifications, and pancreatic pseudocysts showed significant higher values in ACP than ICP patients. No significant differences were found between patients with and without CFTR mutations. Conclusions: Apart from reinforcing previous findings our data highlight the increased susceptibility of CFTR heterozygous to developing CP. Heterozygosity, combined with other factors, places these individuals at greater risk.

Original languageEnglish
Pages (from-to)374-379
Number of pages6
JournalPancreas
Volume28
Issue number4
DOIs
Publication statusPublished - May 2004
Externally publishedYes

Fingerprint

Cystic Fibrosis Transmembrane Conductance Regulator
Chronic Pancreatitis
Regulator Genes
Mutation
Cystic Fibrosis
Pancreatic Pseudocyst
Causality
Pancreatitis
Abdominal Pain
Tobacco

Keywords

  • CFTR gene
  • CFTR-related disease
  • Chronic pancreatitis
  • Mutational analysis

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Endocrinology

Cite this

Casals, T., Aparisi, L., Martínez-Costa, C., Giménez, J., Ramos, M. D., Mora, J., ... Farré, A. (2004). Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis? Pancreas, 28(4), 374-379. https://doi.org/10.1097/00006676-200405000-00004

Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis? / Casals, Teresa; Aparisi, Luís; Martínez-Costa, Cecilia; Giménez, Javier; Ramos, Maria D.; Mora, Josefina; Diaz, Juan; Boadas, Jaume; Estivill, Xavier P.; Farré, Antoni.

In: Pancreas, Vol. 28, No. 4, 05.2004, p. 374-379.

Research output: Contribution to journalArticle

Casals, T, Aparisi, L, Martínez-Costa, C, Giménez, J, Ramos, MD, Mora, J, Diaz, J, Boadas, J, Estivill, XP & Farré, A 2004, 'Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis?', Pancreas, vol. 28, no. 4, pp. 374-379. https://doi.org/10.1097/00006676-200405000-00004
Casals T, Aparisi L, Martínez-Costa C, Giménez J, Ramos MD, Mora J et al. Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis? Pancreas. 2004 May;28(4):374-379. https://doi.org/10.1097/00006676-200405000-00004
Casals, Teresa ; Aparisi, Luís ; Martínez-Costa, Cecilia ; Giménez, Javier ; Ramos, Maria D. ; Mora, Josefina ; Diaz, Juan ; Boadas, Jaume ; Estivill, Xavier P. ; Farré, Antoni. / Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis?. In: Pancreas. 2004 ; Vol. 28, No. 4. pp. 374-379.
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abstract = "Objective: Cystic fibrosis transmembrane conductance regulator (CFTR) mutations are responsible for cystic fibrosis (CF) and have been postulated as a predisposing risk factor to chronic pancreatitis (CP), but controversial results demand additional support. We have therefore investigated the role of the CFTR gene in a cohort of 68 CP patients. Methods: We have performed the CFTR gene analysis using 2 screening techniques. Fragments showing abnormal migration patterns were characterized by sequencing. Patients were classified in alcoholic (ACP) (n = 37) and idiopathic (ICP) (n = 31) chronic pancreatitis. Clinical features of CP and CF were evaluated. Results: Sixteen mutations/variants were identified in 27 patients (40{\%}), most of them (35{\%}) presenting a single CFTR mutant gene. The 1716G/A variant showed the highest frequency accounting for 22{\%} in ICP and 5{\%} in ACP, in contrast with other more common mutations such as F508del found in 8{\%} of ACP and the 5T variant identified in 7{\%} of patients. Acute pancreatitis, abdominal pain, tobacco, pancreatic calcifications, and pancreatic pseudocysts showed significant higher values in ACP than ICP patients. No significant differences were found between patients with and without CFTR mutations. Conclusions: Apart from reinforcing previous findings our data highlight the increased susceptibility of CFTR heterozygous to developing CP. Heterozygosity, combined with other factors, places these individuals at greater risk.",
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