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Kim et al. Hepatoma Res 2020;6:85 Hepatoma Research
DOI: 10.20517/2394-5079.2020.96

Review Open Access

Genetic risk factors associated with NAFLD

Dong Yun Kim , Jun Yong Park 3,4
1,2
1 Department of Medicine, Yonsei University Graduate School of Medicine, Seoul 03722, Korea.
2 Department of Medicine, Physician-Scientist Program, Yonsei University Graduate School of Medicine, Seoul 03722, Korea.
3 Division of Gastroenterology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul 03722, Korea.
4 Yonsei Liver Center, Severance Hospital, Seoul 03722, Korea.
Correspondence to: Dr. Jun Yong Park, Division of Gastroenterology, Department of Internal Medicine, Yonsei University College
of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea. E-mail: drpjy@yuhs.ac
How to cite this article: Kim DY, Park JY. Genetic risk factors associated with NAFLD. Hepatoma Res 2020;6:85.
http://dx.doi.org/10.20517/2394-5079.2020.96
Received: 30 Aug 2020 First Decision: 10 Oct 2020 Revised: 7 Nov 2020 Accepted: 19 Nov 2020 Published: 5 Dec 2020

Academic Editor: Stefano Bellentani Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

Abstract
Non-alcoholic fatty liver disease (NAFLD) is estimated to affect 25% of the worldwide population, and is the
Received: First Decision: Revised: Accepted: Published:
leading cause of chronic liver disease in developed countries. Genetic research on NAFLD has included heritability
Science Editor: Copy Editor: Production Editor: Jing Yu studies, candidate gene studies, familial aggregation studies, and genome-wide association studies (GWAS).
Next-generation sequencing approaches, such as whole-genome sequencing and whole-exon sequencing, are
emerging as the post-GWAS era of genetic research. However, GWAS remains more practical for elucidating the
genetic factors related to NAFLD, which is affected by thousands of common genetic variants and does not follow
Mendelian inheritance. In the present review, we summarize the current knowledge regarding five GWAS-identified
genetic loci that are associated with NAFLD. We also discuss the relationships between NAFLD-predisposing
polymorphisms and cardiovascular disease, and potential applications for these identified genetic loci.

Keywords: Genome-wide association study, non-alcoholic fatty liver disease, PNPLA3, TM6SF2, GCKR, MBOAT7,
HSD17B13

INTRODUCTION
Non-alcoholic fatty liver disease (NAFLD) is estimated to affect a quarter of the global population, and
[1]
is the leading cause of chronic liver diseases in developed countries . NAFLD etiologies are complex
and the factors driving NAFLD progression are not completely understood, although they likely include

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
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