Genetic factors associated with the presence and progression of nonalcoholic fatty liver disease: a narrative review. [Review]

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Citation: Gastroenterologia y Hepatologia. 35(1):32-41, 2012 Jan.PMID: 22093607Institution: MedStar Washington Hospital CenterDepartment: Medicine/GastroenterologyForm of publication: Journal ArticleMedline article type(s): Journal Article | Research Support, Non-U.S. Gov't | ReviewSubject headings: *Fatty Liver/ge [Genetics] | Disease Progression | Genome-Wide Association Study | HumansISSN:
  • 0210-5705
Name of journal: Gastroenterologia y hepatologiaAbstract: Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the world. Whereas insulin resistance and obesity are considered major risk factors for the development and progression of NAFLD, the genetic underpinnings are unclear. Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results. In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409). Since then, two additional genome wide scans were published and identified 9 additional genetic variants. Whereas these results shed light into the understanding of the genetics of NAFLD, most of associations have not been replicated in independent samples and, therefore, remain undetermined the significance of these findings. This review aims to summarize the understanding of genetic epidemiology of NAFLD and highlights the gaps in knowledge. Copyright 2011 Elsevier Espana, S.L. All rights reserved.All authors: Hernaez RDigital Object Identifier: Date added to catalog: 2013-09-17
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Journal Article MedStar Authors Catalog Article Available 22093607

Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the world. Whereas insulin resistance and obesity are considered major risk factors for the development and progression of NAFLD, the genetic underpinnings are unclear. Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results. In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409). Since then, two additional genome wide scans were published and identified 9 additional genetic variants. Whereas these results shed light into the understanding of the genetics of NAFLD, most of associations have not been replicated in independent samples and, therefore, remain undetermined the significance of these findings. This review aims to summarize the understanding of genetic epidemiology of NAFLD and highlights the gaps in knowledge. Copyright 2011 Elsevier Espana, S.L. All rights reserved.

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