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Kinder- und Jugendmedizin 2017; 17(03): 143-151
DOI: 10.1055/s-0038-1629417
Hepatologie
Schattauer GmbH

Genetische Modulatoren der nichtalkoholischen Fettlebererkrankung

Genetic modulators of non-alcoholic fatty liver disease
S. Schuster
1   Universitätsklinikum Leipzig, Department für Frauen- und Kindermedizin, Zentrum für Pädiatrische Forschung, Leipzig
2   University of California San Diego, School of Medicine, Department of Pediatrics, La Jolla, USA
,
M. Penke
1   Universitätsklinikum Leipzig, Department für Frauen- und Kindermedizin, Zentrum für Pädiatrische Forschung, Leipzig
,
A. Garten
1   Universitätsklinikum Leipzig, Department für Frauen- und Kindermedizin, Zentrum für Pädiatrische Forschung, Leipzig
3   Molecular Metabolism Group, Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
› Author Affiliations
Further Information

Publication History

Eingereicht am: 05 January 2017

angenommen am: 01 February 2017

Publication Date:
24 January 2018 (online)

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Zusammenfassung

Die nicht-alkoholische Fettlebererkrankung (NAFLD) ist heute eine der häufigsten chronischen Lebererkrankungen und wird aufgrund steigender Prävalenz in den nächsten Jahren zur häufigsten Ursache für Lebertransplantationen. Neben einem ungesunden Lebensstil spielen auch genetische sowie epigenetische Faktoren eine Rolle bei der NAFLD-Pathogenese und dem Schweregrad der Erkrankung. Dabei werden alle Verlaufsstadien der NAFLD, von der Insulinresistenz und hepatischen Lipidakkumulation über die nicht-alkoholische Steatohepatitis mit Schädigung der Leberzellen und Fibrose bis hin zum mögli-chen Endstadium, der Leberzirrhose und dem hepatozellulären Karzinom, von genetischen Faktoren beeinflusst. Eine Analyse dieser interindividuellen genetischen Unterschiede ist wichtig für 1) eine sichere und frühzeitige Diagnose der NAFLD, 2) zur Identifizierung von Patienten mit dem Risiko zur Progression und 3), um neue Therapiemöglichkeiten zu entwickeln. Dieser Artikel diskutiert die derzeit bekannten krankheitsrelevanten Genvarianten und wie diese die Entstehung und Progression der NAFLD beeinflussen.

Summary

To date, non-alcoholic fatty liver disease (NAFLD) is one of the most prevalent chronic liver diseases and is thought to become the most frequent cause for liver transplantation in the near future. Besides an unhealthy life style, genetic and epigenetic factors are playing an important role in determining NAFLD pathogenesis and severity. Genetic factors have an influence on all stages of NAFLD, ranging from insulin resistance and hepatic lipid accumulation, non-alcoholic steatohepatitis and fibrosis to end-stage liver disease and hepatocellular carcinoma. Analysis of these between-subject genetic differences is important for a more secure and early diagnosis of NAFLD, to identify patients at risk of NAFLD progression and to develop novel therapy opportunities. This review discusses the currently known disease-relevant genetic variants and how they exert their influence on development and progression of NAFLD.

Schlüsselwörter

NAFLD - Genetik - NASH - Polymorphismus

Keywords

NAFLD - genetics - NASH - polymorphism
 

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