Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.
|
25835118 |
2015 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tropical pancreatitis associates with SPINK1 and/or CFTR gene mutations in approximately 50% of patients, similar to the frequency in idiopathic chronic pancreatitis.
|
21844753 |
2011 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the risk of ICP.
|
20977904 |
2011 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk.
|
21520337 |
2011 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations.
|
20551465 |
2010 |
Idiopathic chronic pancreatitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Some other genes, such as SPINK1 or CFTR, have been associated with familial idiopathic chronic pancreatitis.
|
19944211 |
2009 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, the CFTR gene mutation, especially the 5T genotype, appears to have some relationship to ICP prevalence in Japanese patients independent of cystic fibrosis.
|
19383231 |
2009 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Abnormal CFTR allele was found to be thrice as frequent in ICP patients as in controls (22/156 vs 19/400, p < 0.0001).
|
17539902 |
2007 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
At least one CFTR mutation or variant was carried in 18 of 40 patients (45%) with idiopathic chronic pancreatitis and in 6 of 16 patients (38%) with idiopathic recurrent acute pancreatitis but in only 11 of the 50 controls (22%, P=0.005).
|
16193325 |
2005 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous SPINK1 mutations were detected in eight ICP patients (15% v 1% in controls) but only one also carried an additional mild CFTR mutation.
|
15987793 |
2005 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The risk of idiopathic chronic pancreatitis (ICP) is increased in individuals who have CFTR genotypes containing a CF-causing mutation plus a second pathogenic allele.
|
16134171 |
2005 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
|
15097853 |
2004 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
|
11938439 |
2002 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the last few years, several genes have been identified as being associated with hereditary and idiopathic chronic pancreatitis (CP), i.e.PRSS1, CFTR and SPINK1.
|
12120220 |
2001 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Another common polymorphism of the CFTR gene has recently been implicated in the pathogenesis of idiopathic chronic pancreatitis, the 5T variant of the variable length polythymidine tract in intron 8 (the normal genotypes are 7T and 9T).
|
10195826 |
1999 |
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ten patients with idiopathic chronic pancreatitis (37 percent) had at least one abnormal CFTR allele.
|
9725922 |
1998 |