A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis

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:

16 Dec 2014 01:01

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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