Rosendahl, Jonas; Tönjes, Anke; Schleinitz, Dorit; Kovacs, Peter; Wiegand, Johannes; Ruffert, Claudia; Jesinghaus, Moritz; Schober, Robert; Herms, Max; Grützmann, Robert; Schulz, Hans-Ulrich; Stickel, Felix; Werner, Jens; Bugert, Peter; Blüher, Matthias; Stumvoll, Michael; Böhm, Stephan; Berg, Thomas; Wittenburg, Henning; Mössner, Joachim; ... (2012). A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis. PLoS ONE, 7(1), e29433. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0029433
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Background
Chronic pancreatitis (CP) is an inflammatory disease that in some patients leads to exocrine and endocrine dysfunction. In industrialized countries the most common aetiology is chronic alcohol abuse. Descriptions of associated genetic alterations in alcoholic CP are rare. However, a common PNPLA3 variant (p.I148M) is associated with the development of alcoholic liver cirrhosis (ALC). Since, alcoholic CP and ALC share the same aetiology PNPLA3 variant (p.I148M) possibly influences the development of alcoholic CP.
Methods
Using melting curve analysis we genotyped the variant in 1510 patients with pancreatitis or liver disease (961 German and Dutch alcoholic CP patients, 414 German patients with idiopathic or hereditary CP, and 135 patients with ALC). In addition, we included in total 2781 healthy controls in the study.
Results
The previously published overrepresentation of GG-genotype was replicated in our cohort of ALC (p-value <0.0001, OR 2.3, 95% CI 1.6–3.3). Distributions of genotype and allele frequencies of the p.I148M variant were comparable in patients with alcoholic CP, idiopathic and hereditary CP and in healthy controls.
Conclusions
The absence of an association of PNPLA3 p.I148M with alcoholic CP seems not to point to a common pathway in the development of alcoholic CP and alcoholic liver cirrhosis.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Hepatology |
UniBE Contributor: |
Stickel, Felix |
ISSN: |
1932-6203 |
Publisher: |
Public Library of Science |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:38 |
Last Modified: |
05 Dec 2022 14:11 |
Publisher DOI: |
10.1371/journal.pone.0029433 |
PubMed ID: |
22276112 |
Web of Science ID: |
000301568100009 |
BORIS DOI: |
10.7892/boris.15215 |
URI: |
https://boris.unibe.ch/id/eprint/15215 (FactScience: 222507) |
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