2011
DOI: 10.1053/j.gastro.2010.10.045
|View full text |Cite
|
Sign up to set email alerts
|

Combined Bicarbonate Conductance-Impairing Variants in CFTR and SPINK1 Variants Are Associated With Chronic Pancreatitis in Patients Without Cystic Fibrosis

Abstract: Background & Aims Idiopathic chronic pancreatitis (ICP) is a complex inflammatory disorder associated with multiple genetic and environmental factors. 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. We investigated whether sequence variants in the gene encoding the pancreatic secretory trypsin inhibitor, SPINK1, further incr… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

7
92
1
1

Year Published

2013
2013
2018
2018

Publication Types

Select...
4
4
1

Relationship

0
9

Authors

Journals

citations
Cited by 131 publications
(101 citation statements)
references
References 42 publications
7
92
1
1
Order By: Relevance
“…In a recent publication, Schneider et al (2011) investigated a large group of patients with "idiopathic" chronic pancreatitis and confirmed other studies that the combination of CFTR and serine protease inhibitor Kazaltype 1 (SPINK1) mutations markedly increase the risk of pancreatitis. However, a novel finding was that the variant R75Q of CFTR increases the risk of pancreatitis markedly.…”
Section: Recurrent "Idiopathic" Pancreatitissupporting
confidence: 57%
“…In a recent publication, Schneider et al (2011) investigated a large group of patients with "idiopathic" chronic pancreatitis and confirmed other studies that the combination of CFTR and serine protease inhibitor Kazaltype 1 (SPINK1) mutations markedly increase the risk of pancreatitis. However, a novel finding was that the variant R75Q of CFTR increases the risk of pancreatitis markedly.…”
Section: Recurrent "Idiopathic" Pancreatitissupporting
confidence: 57%
“…Individuals who carry only one allelic mutation of the CFTR gene still are at an increased risk of chronic pancreatitis three-to fourfold over the general population. Those individuals with heterozygous CFTR mutations typically have coexisting germline mutations in either SPINK1 or CTRC [38]. The CTRC gene carries a risk for chronic pancreatitis but usually in conjunction in individuals with mutations in either CFTR or SPINK1 [39].…”
Section: Gene (S) Involved Clinical Featuresmentioning
confidence: 99%
“…However, group 2 variants can cause CFTR-related symptoms when present in trans in a group 1 variant in a compound heterozygous genotype. 4,5,[22][23][24][25][26] The partial damaging effects of group 2 variants on the CFTR gene product have been demonstrated in functional and biochemical analyses.…”
Section: Group 2 Cftr Variants Display Disease-contributing Potentialmentioning
confidence: 99%