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Updated: Feb 28, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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The Association between Pediatric NAFLD and Common Genetic Variants
Giuseppina Rosaria Umano1,2, Mariangela Martino3,4, Nicola Santoro5,6
1Department of Pediatrics, Yale University, 06520, New Haven, CT, USA. giuseppina.umano@yale.edu.
Children (Basel, Switzerland)
|June 21, 2017
Summary
Genetic factors significantly influence non-alcoholic fatty liver disease (NAFLD), a common obesity complication. Gene variants regulating lipid metabolism are linked to intra-hepatic fat accumulation, impacting disease progression.
Area of Science:
- Hepatology
- Genetics
- Metabolic Diseases
Background:
- Non-alcoholic fatty liver disease (NAFLD) is a prevalent condition often linked to obesity.
- Growing evidence suggests a significant role for genetic predisposition in NAFLD development and progression.
Purpose of the Study:
- To comprehensively review gene variants associated with NAFLD.
- To elucidate the impact of genetic factors on the natural history of NAFLD.
Main Methods:
- Literature review of genetic studies on NAFLD.
- Analysis of gene variants involved in lipid metabolism.
- Synthesis of evidence linking genetic factors to intra-hepatic fat accumulation.
Main Results:
- Numerous gene variants have been identified as associated with NAFLD.
- Variants in genes regulating lipid metabolism show a strong link to intra-hepatic fat accumulation.
- These genetic factors influence the natural course of the disease.
Conclusions:
- Genetic predisposition is a key determinant in NAFLD pathogenesis.
- Understanding these gene variants is crucial for comprehending NAFLD's natural history.
- Further research into genetic factors may offer novel therapeutic targets.
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