|
rs148954387
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553134935
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs213950
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While the T5 allele is a mutation that is over-represented in patients with chronic pancreatitis, no data are available concerning the possible allelic preference at the other two polymorphic loci, (TG)m and M470V, in these patients.
|
10668931 |
1999 |
|
rs118204082
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, we have identified a novel loss of function mutation in the LPL gene (Cys(239)-->Trp) of a patient with type I hyperlipoproteinemia suffering from severe recurrent pancreatitis.
|
11134145 |
2000 |
|
rs1223231582
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggested that the -215G>A alteration, as well as the N34S alteration, is a predisposing factor for CP.
|
11355022 |
2001 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggested that the -215G>A alteration, as well as the N34S alteration, is a predisposing factor for CP.
|
11355022 |
2001 |
|
rs111033565
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The two trypsinogen mutations N29I and R122H were identified in a group of 550 patients with chronic pancreatitis of unclear origin.
|
11755505 |
2001 |
|
rs111033565
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family.
|
11549837 |
2001 |
|
rs267606982
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The two trypsinogen mutations N29I and R122H were identified in a group of 550 patients with chronic pancreatitis of unclear origin.
|
11755505 |
2001 |
|
rs267606982
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family.
|
11549837 |
2001 |
|
rs199769221
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient.
|
11138965 |
2001 |
|
rs202003805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient.
|
11138965 |
2001 |
|
rs387906698
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.
|
11842279 |
2001 |
|
rs1223231582
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP.
|
12014716 |
2002 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for genetic susceptibility to chronic pancreatitis, we used a family-based and case-control approach in two separate ethnic groups from the Indian subcontinent, to determine whether N34S was associated with susceptibility to FCPD.
|
12187509 |
2002 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP.
|
12014716 |
2002 |
|
rs777418530
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for genetic susceptibility to chronic pancreatitis, we used a family-based and case-control approach in two separate ethnic groups from the Indian subcontinent, to determine whether N34S was associated with susceptibility to FCPD.
|
12187509 |
2002 |
|
rs1303
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The prevalence of PiM variants was higher in patients with early onset CP than in late onset (P < 0.05 for E376D).
|
11916201 |
2002 |
|
rs1223231582
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group.
|
14560157 |
2003 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group.
|
14560157 |
2003 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States.
|
12822871 |
2003 |
|
rs11554495
|
|
|
0.020 |
GeneticVariation |
BEFREE |
G61C mutation of the keratin 8 gene, together with other environmental factors and/or genetic factors, could predispose to chronic pancreatitis, by interfering with the normal organization of keratin filaments.
|
12868678 |
2003 |
|
rs1223231582
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic cancer in a patient with the SPINK1 N34S mutation.
|
15084977 |
2004 |
|
rs1223231582
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because the SPINK1 N34S mutation is very common in the general population, it is unlikely that this mutation alone can initiate the development of chronic pancreatitis.
|
15528018 |
2004 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because the SPINK1 N34S mutation is very common in the general population, it is unlikely that this mutation alone can initiate the development of chronic pancreatitis.
|
15528018 |
2004 |