Page 123 - Read Online

Tai et al. Hepatoma Res 2020;6:74 Hepatoma Research
DOI: 10.20517/2394-5079.2020.54

Review Open Access

The role of genetic factors in HBV-related HCC:
perspectives from local genetic backgrounds and

clinical epidemiology

Dar-In Tai , Jennifer Tai 2
1,2
1 Liver Research Center, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan.
2 Department of Internal Medicine, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan.

Correspondence to: Dr. Dar-In Tai, Liver Research Center, Chang Gung Memorial Hospital and Chang Gung University College of
Medicine, 199 Tung-Hwa North Road, Taipei 10591, Taiwan. E-mails: tai48978@cgmh.org.tw; imjenkid@gmail.com

How to cite this article: Tai DI, Tai J. The role of genetic factors in HBV-related HCC: perspectives from local genetic backgrounds
and clinical epidemiology. Hepatoma Res 2020;6:74. http://dx.doi.org/10.20517/2394-5079.2020.54

Received: 30 May 2020 First Decision: 5 Aug 2020 Revised: 30 Aug 2020 Accepted: 14 Sep 2020 Published: 6 Nov 2020
Academic Editor: Guido Guenther Gerken Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

Received: First Decision: Revised: Accepted: Published: Abstract
Familial clustering of hepatitis B surface antigen carriers (HBsAg) and hepatocellular carcinoma (HCC) has led to
Science Editor: Copy Editor: Production Editor: Jing Yu
the evaluation of the role of genetics in hepatitis B-related diseases. Consistent reports indicate that the HLA-DP
and -DQ loci are associated with persistent hepatitis B virus (HBV) infection. However, for hepatocarcinogenesis,
existing studies have low power and conflicting data. Global single nucleotide polymorphism (SNP) data was
collected from the 1000 Genomes Project and correlated with local epidemiological information. Southeastern
Asia has a higher prevalence of HBsAg than Northeastern Asia; this was used in the evaluation of persistent HBV
infection. The higher incidence of HCC in West Africa compared with East Africa was used in the evaluation
of hepatocarcinogenesis. The allele frequencies for SNPs were significantly different between East Asians
and Africans. Therefore, SNPs that have been identified in persistent HBV infections in East Asia may not be
completely applicable in Africa. SNPs in NTCP, CTF19, and the HLA-DQ and -DP loci showed North-to-South allele
frequency changes in East Asia. These findings confirm the role of genetics in persistent HBV infection. Some of
the SNPs in the HLA loci show a trend of West-to-East allele frequency changes in Africa, indicating they may
participate in hepatocarcinogenesis. Among the non-HLA related SNPs, rs2596542 in MICA shows a strong trend
of allele frequency changes and is correlated with HCC incidence in Africa. SNPs in KIF1, IL-1A, and STAT4 also
show, albeit with low statistical power, allele frequency trends compatible with HCC incidence. Taken together,
there are strong correlations between background genetics in HLA-DP and -DQ loci with persistent HBV infection
and hepatocarcinogenesis. The correlations were weak-positive in non-HLA loci.

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

www.hrjournal.net