Related Experiment Video
Updated: Jun 15, 2025

Author Spotlight: Establishing MASLD Cell Models for Investigating Disease Mechanisms and the Lipid-Lowering Effects of Koumiss
Published on: July 19, 2024
Genetic Variations and Nonalcoholic Fatty Liver Disease: Field Synopsis, Systematic Meta-Analysis, and
Ya Mei Li1, Xiang Xiao2, Jie Wang3
1Department of Epidemiology and Health Statistics, School of Public Health, University of South China, Hengyang 421001, Hunan, China;Department of Maternal and Child Health, Xiangya School of Public Health, Central South University, Changsha 410008, Hunan, China.
This review summarizes genetic variants linked to nonalcoholic fatty liver disease (NAFLD). Six variants in five genes show moderate to strong associations, advancing understanding of NAFLD genetic risk.
Area of Science:
- Genetics
- Hepatology
- Epidemiology
Background:
- Nonalcoholic fatty liver disease (NAFLD) is a growing global health concern with a complex etiology.
- Genetic factors play a significant role in NAFLD susceptibility and progression.
- A comprehensive understanding of the genetic architecture of NAFLD is crucial for risk stratification and therapeutic development.
Approach:
- Systematic literature search across major databases (Web of Science, PubMed, Embase) from 1980 to 2022.
- Meta-analyses of genetic variants associated with NAFLD, utilizing at least five data sources per variant.
- Grading of epidemiologic credibility using the Venice criteria to assess the strength of evidence for genetic associations.
Key Points:
- Identified 465 genetic variants in 173 genes from 399 eligible studies (candidate gene, GWAS, WES).
- Meta-analysis confirmed 11 variants in 10 genes significantly associated with NAFLD.
- Strong evidence linked variants in *HFE* and *TNF*; moderate evidence for *TM6SF2*, *GCKR*, *ADIPOQ*; weak evidence for *MBOAT7*, *PEMT*, *PNPLA3*, *LEPR*, *MTHFR*.
Conclusions:
- Six variants in five genes demonstrate moderate to strong associations with NAFLD.
- These findings contribute to elucidating the genetic underpinnings of NAFLD.
- Highlights key genetic targets for future research and potential clinical applications in NAFLD management.
Related Concept Videos
Diseases of the Liver and Gallbladder
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Overview of Lipid Metabolism
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...

