CFTR IVS8 Poly-T Variation Affects Severity of Acute Pancreatitis in Women

Background Cystic fibrosis transmembrane conductance regulator (CFTR) is important for normal pancreatic function. Its coding gene is polymorphic, and the variations have been associated with the increased risk for acute pancreatitis. However, their impact on the disease severity is still unknown. T...

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Bibliographic Details
Published in:Journal of gastrointestinal surgery 2019-05, Vol.23 (5), p.975-981
Main Authors: Radosavljevic, Ivan, Stojanovic, Bojan, Spasic, Marko, Jankovic, Slobodan, Djordjevic, Natasa
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Comorbidity
Cystic fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Female
Gastroenterology
Gastrointestinal surgery
Heterozygote
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Original Article
Pancreatitis
Pancreatitis - genetics
Severity of Illness Index
Sex Factors
Surgery
Young Adult
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Summary:Background Cystic fibrosis transmembrane conductance regulator (CFTR) is important for normal pancreatic function. Its coding gene is polymorphic, and the variations have been associated with the increased risk for acute pancreatitis. However, their impact on the disease severity is still unknown. Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis. Method The study involved 98 acute pancreatitis patients. The severity of the disease was determined based on the Atlanta Classification system. IVS8-poly T, R117H, and M470V genotyping was performed using PCR-RFLP method. Results IVS8-5T, IVS8-7T, IVS8-9T, and M470V alleles were found at the frequencies of 5.7, 75.5, 18.9, and 55.7%, respectively, while R117H was not observed. Among women, the severe form of the disease was more frequent in carriers of at least one IVS8 9T allele (RR for 9T/9T + 9T/non-9T vs. non-9T/non-9T: 2.115; 95% CI: 1.241–3.605). This association was not detected in men and was not affected by M470V. In addition, co-morbidities increased the severity of acute pancreatitis ( p  = 0.022). Conclusion Our study reveals that IVS8 poly-T variation affects severity of acute pancreatitis in women and that existent co-morbidities worsen the clinical course of the disease.
ISSN:1091-255X
1873-4626
DOI:10.1007/s11605-018-3913-8