rs17107315
|
|
|
0.060 |
GeneticVariation |
BEFREE |
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768).
|
16954950 |
2006 |
rs17107315
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The SPINK1 variant p.N34S is overrepresented in patients with acute pancreatitis, but more studies distinguishing between first-time and recurrent acute pancreatitis have to be done to determine whether this is only true for patients with recurrent acute pancreatitis.
|
22228370 |
2012 |
rs17107315
|
|
|
0.060 |
GeneticVariation |
BEFREE |
SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.
|
19888199 |
2010 |
rs17107315
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We studied 183 unrelated patients with AP and RAP and 168 healthy controls for p.N34S variant in SPINK1 gene using sequencing of genomic DNA.
|
24844923 |
2014 |
rs17107315
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We did not find a statistically significant association of ARP or CP with the N34S SPINK-1 gene mutation.
|
19844201 |
2010 |
rs17107315
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis.Two cases had the N34S SPINK1 mutation.
|
25206283 |
2014 |
rs1223231582
|
|
|
0.020 |
GeneticVariation |
BEFREE |
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768).
|
16954950 |
2006 |
rs1223231582
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis.Two cases had the N34S SPINK1 mutation.
|
25206283 |
2014 |
rs111033567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
|
25383785 |
2015 |
rs1800080
|
|
|
0.010 |
GeneticVariation |
BEFREE |
At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.
|
20950468 |
2010 |
rs376907511
|
|
|
0.010 |
GeneticVariation |
BEFREE |
At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.
|
20950468 |
2010 |
rs886037774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.
|
28548960 |
2017 |
rs886037775
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.
|
28548960 |
2017 |