CareLit Fachartikel
Frequent PNPLA3 variant determines the fate of patients with chronic liver diseases: a Liver unit experience
A Arslanow, A Schmetz, SN Weber, F Grünhage, F Lammert, M Krawczyk · Zeitschrift für Gastroenterologie · 2014 · Heft 01
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2014
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Introduction and aim: The frequent variant p.I148 M of the lipogenic enzyme adiponutrin (PNPLA3) represents a major genetic risk factor for progressive forms of chronic liver diseases (CLD) (Krawczyk et al. Semin Liver Dis 2013). Recently we have introduced genotyping of this mutation in routine diagnostic work-up of liver patients. Here we investigate the cumulative frequencies of the PNPLA3 mutation in patients with CLD that were referred to our center for genotyping in years 2010 – 2013. Methods: The PNPLA3 SNP rs73840 (p.I148 M) was genotyped by a PCR-based assay with 5'-nuclease and fluorescence detection i…
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Zeitschrift für Gastroenterologie
