|
rs9111
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<i>Bach2</i> repression mediates Th17 cell induced inflammation and rs9111-TT in individuals with primary genetic susceptibility to CP is associated with clinical features of advanced disease.
|
29511557 |
2018 |
|
rs1042636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our United States-based study confirmed an association of CASR and CP and for the first time demonstrated that CASR R990G is a significant risk factor for CP.
|
18680227 |
2008 |
|
rs773552397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In particular, the kindred with the R896H mutation presenting with a similar pedigree to the family described above may indicate a role for CASR gene mutations in SPINK1-related CP.
|
16497624 |
2006 |
|
rs113857788
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient.
|
16187186 |
2005 |
|
rs139729994
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The data suggest that the Japanese-specific CFTR variant L1156F causes mild dysfunction of CFTR and increases the risk of alcoholic chronic pancreatitis in Japanese.
|
26089335 |
2015 |
|
rs78655421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
|
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 |
|
rs12008279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study confirmed a significant association of 2 variants in CLDN2 gene (rs4409525-OR 1.71, P = 1.38 x 10-09; rs12008279-OR 1.56, P = 1.53 x 10-04) and 2 variants in MORC4 gene (rs12688220-OR 1.72, P = 9.20 x 10-09; rs6622126-OR 1.75, P = 4.04x10-05) in Indian patients with CP.
|
26820620 |
2016 |
|
rs7057398
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The single-nucleotide polymorphisms rs10273639 at the PRSS1-PRSS2 locus and rs7057398 and rs12688220 at the CLDN2-MORC4 locus are associated with CP and strongly associate with ACP, but only rs7057398 with NACP in female patients.
|
25253127 |
2015 |
|
rs7057398
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this study, we have demonstrated the association of claudin2 (rs7057398) polymorphism with IRAP and progression of IRAP to CP, and PRSS1 (rs10273639) polymorphism with IRAP and ICP.
|
26110235 |
2015 |
|
rs777418530
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Approximately 15-40% of patients with so-called idiopathic CP carry p.N34S on one allele or on both alleles.
|
21525753 |
2010 |
|
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 |
|
rs1413293653
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Extended analysis of the p.T167A variant revealed no association to CP and in functional assays p.T167A showed normal secretion and activity.
|
20484962 |
2010 |
|
rs775626498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Extended analysis of the p.T167A variant revealed no association to CP and in functional assays p.T167A showed normal secretion and activity.
|
20484962 |
2010 |
|
rs1553134935
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121909293
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two CTRC alterations, p.R254W and p.K247_R254del, are significantly associated with idiopathic as well as alcohol-related CP.
|
21525753 |
2010 |
|
rs121909293
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For the first time, we demonstrated that the c.180TT genotype of common p.Gly60Gly variant is strong, an independent CP risk factor (OR = 23; 95% CI 7.7-70; P < 0.001) with effect size comparable to p.Arg254Trp mutation.
|
28968289 |
2017 |
|
rs497078
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study provides evidence that CTRC variants, including c.180TT (p.Gly60Gly) are strong CP risk factors.
|
28968289 |
2017 |
|
rs497078
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The authors also observed significant association for the synonymous variant c.180C>T (p.(=)) with CP (OR 2.71, 95% CI 1.79 to 4.12, p=5.3 × 10(-7)).
|
22580415 |
2013 |
|
rs747940576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two common haplotypes, c.101A>G (p.N34S) and c.-215G>A, and four intronic alterations of the serine protease inhibitor Kazal type 1 (SPINK1) gene have been found to increase the risk for CP in the Asia Pacific region.
|
21323990 |
2011 |
|
rs762727745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors also observed significant association for the synonymous variant c.180C>T (p.(=)) with CP (OR 2.71, 95% CI 1.79 to 4.12, p=5.3 × 10(-7)).
|
22580415 |
2013 |
|
rs980303898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the pancreata of Pdx1-Cre; LSL-Kras(G12D) mice, exendin-4 led to acceleration of the disruption of exocrine architecture and chronic pancreatitis with mucinous metaplasia and increased formation of murine PanIN lesions.
|
22266668 |
2012 |
|
rs587777636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient with severe type 5 hyperlipoproteinemia (MIM 144650), fasting chylomicronemia and relapsing pancreatitis resistant to standard therapy was found to be homozygous for a novel GPIHBP1 missense variant, namely G56R.
|
17883852 |
2007 |
|
rs1799945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although hemochromatosis is associated with pancreatic pathology, the p.C282Y and p.H63D variants do not play a significant role in the pathogenesis of chronic pancreatitis or pancreatic adenocarcinoma.
|
17666895 |
2007 |
|
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although hemochromatosis is associated with pancreatic pathology, the p.C282Y and p.H63D variants do not play a significant role in the pathogenesis of chronic pancreatitis or pancreatic adenocarcinoma.
|
17666895 |
2007 |