|
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 |
Alterations to the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) also cause pancreatitis.
|
25447846 |
2015 |
|
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 |
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 |
It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field.
|
15749233 |
2005 |
|
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 |
It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field.
|
15528020 |
2004 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No specific CFTR genotype was found predictive of pancreatitis.
|
27086061 |
2017 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The length of recurrences of pancreatitis before diagnosis of chronic pancreatitis was shorter in chronic pancreatitis patients with one or more CFTR gene mutations than in the other idiopathic chronic pancreatitis patients (7.4+/-5.8 vs. 2.1+/-2 years).
|
12779072 |
2003 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes.
|
17003641 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.
|
12940920 |
2003 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that any augmentation of CFTR function can reduce the risk of pancreatitis.
|
31611131 |
2019 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twelve of 56 patients with pancreatitis (21%) fulfilled current clinical criteria for the diagnosis of CF, but CFTR genotyping alone confirmed the diagnosis in only two of these patients.
|
16193325 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Genetic mutations in the pancreatic secretory trypsin inhibitor and the cystic fibrosis transmembrane conductance regulator have been described to play a role in the development of pancreatitis as well.
|
16764792 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutation analysis of the CFTR gene therefore appears to be of limited diagnostic and prognostic value in the management of chronic pancreatitis.
|
17943404 |
2007 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
|
17489851 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis.
|
15775704 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes.
|
17003641 |
2006 |
|
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 |
The authors examine whether mild or severe CFTR mutations, homozygous or compound heterozygous CFTR mutations, or even simple cystic fibrosis carrier status alone increases the risk of developing pancreatitis.
|
15987793 |
2005 |
|
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 |