Independent contribution of common CFTR variants to chronic pancreatitis

Rafael De Cid, Maria D. Ramos, Luís Aparisi, Cecilia García, Josefina Mora, Xavier P. Estivill, Antoni Farré, Teresa Casals

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

OBJECTIVE: We have assessed whether CFTR gene has a major impact on chronic pancreatitis (CP) pathogenesis than that provided by the CFTR mutations. For this aim, we have evaluated clinical parameters, CFTR mutations, and 3 potential regulatory CFTR variants (coding single-nucleotide polymorphisms): c.1540A>G, c.2694T>G, and c.4521G>A. Methods: CFTR gene analysis was performed in a cohort of 136 CP patients and 93 controls from Spanish population using current scanning techniques (single-strand conformation polymorphism/heteroduplex, denaturing gradient gel electrophoresis, and denaturing high-performance liquid chromatography) and direct sequencing. Results: A higher frequency of CFTR mutations were observed in patients (39%) than in controls (15%; P ≤ 0.001), differences being mostly attributable to the prevalence of the cystic fibrosis (CF)-causing mutations (P = 0.009). The analysis of variants has shown statistically significant differences between patients and controls for c.4521G>A (Pcorrected = 0.036). Furthermore, the multi-marker analysis revealed that the 1540A;2694G;4521A (AGA) haplotype was more prevalent in CP than controls (Pcorrected = 0.042). Remarkably, this association was unrelated to CF-causing mutations (P = 0.006). Conclusions: Our results corroborate the higher susceptibility of CF carriers to CP and, furthermore, suggest that the AGA haplotype could contribute to an increased risk in the development of CP irrespective of other CF-causing mutations.

Original languageEnglish
Pages (from-to)209-215
Number of pages7
JournalPancreas
Volume39
Issue number2
DOIs
Publication statusPublished - Mar 2010
Externally publishedYes

Fingerprint

Chronic Pancreatitis
Cystic Fibrosis
Mutation
Haplotypes
Denaturing Gradient Gel Electrophoresis
Mutation Rate
Genes
Single Nucleotide Polymorphism
High Pressure Liquid Chromatography
Population

Keywords

  • CFTR mutations
  • CFTR-related disorders
  • Chronic pancreatitis
  • Common CFTR variants
  • Cystic fibrosis
  • Susceptibility

ASJC Scopus subject areas

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

Cite this

De Cid, R., Ramos, M. D., Aparisi, L., García, C., Mora, J., Estivill, X. P., ... Casals, T. (2010). Independent contribution of common CFTR variants to chronic pancreatitis. Pancreas, 39(2), 209-215. https://doi.org/10.1097/MPA.0b013e3181bab679

Independent contribution of common CFTR variants to chronic pancreatitis. / De Cid, Rafael; Ramos, Maria D.; Aparisi, Luís; García, Cecilia; Mora, Josefina; Estivill, Xavier P.; Farré, Antoni; Casals, Teresa.

In: Pancreas, Vol. 39, No. 2, 03.2010, p. 209-215.

Research output: Contribution to journalArticle

De Cid, R, Ramos, MD, Aparisi, L, García, C, Mora, J, Estivill, XP, Farré, A & Casals, T 2010, 'Independent contribution of common CFTR variants to chronic pancreatitis', Pancreas, vol. 39, no. 2, pp. 209-215. https://doi.org/10.1097/MPA.0b013e3181bab679
De Cid, Rafael ; Ramos, Maria D. ; Aparisi, Luís ; García, Cecilia ; Mora, Josefina ; Estivill, Xavier P. ; Farré, Antoni ; Casals, Teresa. / Independent contribution of common CFTR variants to chronic pancreatitis. In: Pancreas. 2010 ; Vol. 39, No. 2. pp. 209-215.
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