|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort.
|
17943404 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that impaired epithelial ion transport due to mild CFTR genotype (namely, IVS8-5T-TG12) might be involved as a triggering factor in acute onsets of pancreatitis in PD, possibly through abnormal pancreatic fluid secretion.
|
17575549 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.
|
17981921 |
2008 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, a combination of both hypercalcemia and genetic variants in SPINK1 or CFTR increases the risk to develop pancreatitis in patients with pHPT.
|
18076731 |
2008 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Patients presenting with recurrent, "idiopathic" pancreatitis require CFTR function testing.
|
18360295 |
2008 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
LHGDN |
Patients presenting with recurrent, "idiopathic" pancreatitis require CFTR function testing.
|
18360295 |
2008 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.
|
19106752 |
2009 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, CFTR mutations not causal for classical cystic fibrosis segregate with unexplained pancreatitis and one of these lies in NBD1 near its ATP-clamp (S573C; close to the Walker B aspartate D572).
|
20332619 |
2010 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a population-based, well-defined group of patients first regarded as having pancreatitis of unknown origin (PUO), we identified, described, and compared the clinical and genetic aspects of patients with hereditary pancreatitis (HP) and with cystic fibrosis transmembrane conductance regulator gene (CFTR) and serine protease inhibitor Kazal type 1 gene (SPINK1) mutations with patients who retained the diagnosis of true idiopathic pancreatitis (tIP) after genetic testing for HP, SPINK1, and CFTR mutations.
|
20502448 |
2010 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were (1) to describe the natural history of pancreatitis associated with the CFTR mutation, (2) to look for genotype-phenotype correlations, and (3) to examine the frequency of CFTR mutations in a population of patients with IP.
|
20460946 |
2010 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In a cohort of patients with pHPT and pancreatitis mutations in the serine protease inhibitor Kazal type I (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes, that increase the risk for pancreatitis have already been detected.
|
20625975 |
2011 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In individuals without cystic fibrosis (CF), variants of CFTR that inhibit bicarbonate conductance but maintain chloride conductance might selectively impair secretion of pancreatic juice, leading to trypsin activation and pancreatitis.
|
20977904 |
2011 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with homozygous or compound heterozygous CFTR mutations have a risk of pancreatitis, but typically do not live long enough to develop pancreatic ductal adenocarcinoma (PDA), a disease that has an average age at diagnosis of 65 years.
|
21809164 |
2011 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The frequency of PD was higher in patients with CFTR gene-associated pancreatitis as compared with those with idiopathic and alcoholic pancreatitis (P<0.0001) and with those with SPINK1 and PRSS1 gene-associated pancreatitis (P<0.02).
|
22158025 |
2012 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This association, however, does not definitely confer a pathophysiological role for PD in pancreatitis but may denote that PD co-mingles with CFTR mutations without influencing pancreatitis or CFTR mutations influence pancreatic duct embryogenesis.
|
22306946 |
2012 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk.
|
23143602 |
2012 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Specific CFTR genotypes are significantly associated with pancreatitis.
|
22658665 |
2012 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk.
|
23143602 |
2012 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes.
|
23751316 |
2013 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreatitis both when considered individually and with a concurrent SPINK1 mutation, suggesting the role of other genetic and environmental factors.
|
24451227 |
2014 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The frequency of CFTR mutations in patients with PC was not significantly different in comparison with healthy controls and controls with pancreatitis.
|
25003218 |
2014 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002).
|
25033378 |
2014 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alterations to the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) also cause pancreatitis.
|
25447846 |
2015 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.
|
25492507 |
2015 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
These findings indicate that impairment of CFTR is critical in the development of pancreatitis; therefore, correcting CFTR function could be the first specific therapy in pancreatitis.
|
26856995 |
2016 |