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

• Verfasst von: Rosendahl, Jonas [VerfasserIn]
• Verfasst von: Tönjes, Anke [VerfasserIn]
• Verfasst von: Schleinitz, Dorit [VerfasserIn]
• Verfasst von: Werner, Jens [VerfasserIn]
• Verfasst von: Bugert, Peter [VerfasserIn]
• Titel: A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis
• Verf.angabe: Jonas Rosendahl, Anke Tönjes, Dorit Schleinitz, Peter Kovacs, Johannes Wiegand, Claudia Ruffert, Moritz Jesinghaus, Robert Schober, Max Herms, Robert Grützmann, Hans-Ulrich Schulz, Felix Stickel, Jens Werner, Peter Bugert, Matthias Blüher, Michael Stumvoll, Stephan Böhm, Thomas Berg, Henning Wittenburg, Joachim Mössner, Rene te Morsche, Monique Derikx, Volker Keim, Heiko Witt, Joost P. H. Drenth
• E-Jahr: 2012
• Jahr: January 20, 2012
• Umfang: 5 S.
• Fussnoten: Gesehen am 19.04.2018
• Titel Quelle: Enthalten in: PLOS ONE
• Ort Quelle: San Francisco, California, US : PLOS, 2006
• Jahr Quelle: 2012
• Band/Heft Quelle: 7(2012,1) Artikel-Nummer e29433, 5 Seiten
• ISSN Quelle: 1932-6203
• DOI: doi:10.1371/journal.pone.0029433
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Alcoholics
• Sach-SW: Alleles
• Sach-SW: Cirrhosis
• Sach-SW: Dutch people
• Sach-SW: Fatty liver
• Sach-SW: Human genetics
• Sach-SW: Pancreatitis
• Sach-SW: Variant genotypes
• K10plus-PPN: 1572169435

Abstract

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.