|
Pancreatitis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CFTR and SPINK-1 mutations have been reported to increase the risk of pancreatitis, but no data are available in HIV-positive patients.
|
15238770 |
2004 |
|
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 |
Biomarker
|
disease |
BEFREE |
A model of interactions between environmental triggers of pancreatic inflammation and disease susceptibility or modifying genes (including PRSS1, SPINK1 and CFTR) provides a framework within which to understand disease pathogenesis.
|
17090903 |
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 |
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 |
Alterations to the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) also cause pancreatitis.
|
25447846 |
2015 |
|
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 |
Compared to the controls with a known cause of pancreatitis (N = 78), cases had a higher prevalence of CFTR mutations (19% vs 2.6%, OR = 9.4; CI, 2.1-41.7; p= 0.0005).
|
15233679 |
2004 |
|
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 |
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 |
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 |
BEFREE |
Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes.
|
23751316 |
2013 |
|
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 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 |
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 |
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 |
In patients with cystic fibrosis, mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene typically cause pulmonary and pancreatic insufficiency while rarely causing pancreatitis.
|
9725922 |
1998 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of polymorphisms in SPINK1 and CFTR are associated with an increased risk of developing pancreatitis.
|
14688470 |
2004 |
|
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 |
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 |
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 |
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 |
No association between CFTR mutations and pancreatitis was observed.
|
16954950 |
2006 |