A global perspective on hepatitis B‐related single nucleotide polymorphisms and evolution during human migration

Tai, Dar‐In; Jeng, Wen–Juei; Lin, Chun‐Yen

doi:10.1002/hep4.1113

Cited by 6 publications

(11 citation statements)

References 48 publications

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“…Interestingly, the susceptible alleles in the HLA-DP/DQ locus are more frequent in Asian populations than in Caucasians, which might be one of the causes for higher prevalence of chronic HBV infections in Asia[ 22 , 113 ]. However, most of these susceptible alleles are not frequent in Africa, too, even though chronic hepatitis B is as prevalent in Africa as in Asia.…”

Section: Discussionmentioning

confidence: 99%

“…However, most of these susceptible alleles are not frequent in Africa, too, even though chronic hepatitis B is as prevalent in Africa as in Asia. Given that the predominant mode of transmission and HBV genotypes are different in Asia and Africa (vertical vs horizontal; B, C vs A, D, E; respectively), the genetic architecture for predisposition to chronic HBV infection also varies among these populations[ 7 , 113 ]. Hence, allele frequency distributions across human populations might give important insights into human-HBV co-evolution.…”

Section: Discussionmentioning

confidence: 99%

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Host genetic factors affecting hepatitis B infection outcomes: Insights from genome-wide association studies

Akçay

Katrinli

Özdil

et al. 2018

WJG

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The clinical outcome of hepatitis B virus (HBV) infection depends on the success or failure of the immune responses to HBV, and varies widely among individuals, ranging from asymptomatic self-limited infection, inactive carrier state, chronic hepatitis, cirrhosis, hepatocellular carcinoma, to liver failure, depending on the success or failure of immune response to HBV. Genome-wide association studies (GWAS) identified key genetic factors influencing the pathogenesis of HBV-related traits. In this review, we discuss GWAS for persistence of HBV infection, antibody response to hepatitis B vaccine, and HBV-related advanced liver diseases. HBV persistence is associated with multiple genes with diverse roles in immune mechanisms. The strongest associations are found within the classical human leukocyte antigen (HLA) genes, highlighting the central role of antigen presentation in the immune response to HBV. Associated variants affect both epitope binding specificities and expression levels of HLA molecules. Several other susceptibility genes regulate the magnitude of adaptive immune responses, determining immunity vs tolerance. HBV persistence and nonresponse to vaccine share the same risk variants, implying overlapping genetic bases. On the other hand, the risk variants for HBV-related advanced liver diseases are largely different, suggesting different host-virus dynamics in acute vs chronic HBV infections. The findings of these GWAS are likely to pave the way for developing more effective preventive and therapeutic interventions by personalizing the management of HBV infection.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Host genetic factors affecting hepatitis B infection outcomes: Insights from genome-wide association studies

Akçay

Katrinli

Özdil

et al. 2018

WJG

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“…In GWAS studies, HLA-DP and -DQ have been shown to consistently be associated with persistent HBV infection in East Asians [17][18][19][20][21][22][23] . However, such high-risk alleles are relatively rare in Africans [24] . Therefore, HBV infection elicited in the early stages of life remains an important mechanism of persistent HBV infection.…”

Section: Hbv Clearancementioning

confidence: 99%

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

Tai¹,

Tai²

2020

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Familial clustering of hepatitis B surface antigen carriers (HBsAg) and hepatocellular carcinoma (HCC) has led to 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.

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“…Chronic persistent hepatitis B virus (HBV) infection is a global disease, and its prevalence is highest in Africa and East Asia [1][2][3][4] . The chronic relapsing inflammation caused by HBV leads to chronic hepatitis, liver cirrhosis, and hepatocellular carcinoma (HCC) [4] .…”

Section: Introductionmentioning

confidence: 99%

“…Diagnosis of HCC in the early, treatable stages leads to improved survival [7,8] . This is especially important for areas with endemic HBV infection [1][2][3]9] . The methods for early detection of HCC mainly rely on alpha-fetoprotein (AFP), AFP-lectin 3 fraction (AFP-L3), des-γ-carboxy prothrombin, and liver ultrasound (US) [5][6][7][8]10,11] .…”

Section: Introductionmentioning

confidence: 99%

Hepatocellular carcinoma occurred in a Hepatitis B carrier clinic cohort during a mean follow up of 10 years

Chen¹,

Tai²,

Tai³

2019

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Aim: Chronic persistent hepatitis B virus carriers are generally asymptomatic until the advanced stage of the disease. The "Hepatitis B-Carrier Clinics" of Chang Gung Memorial Hospital has been using alpha-fetoprotein (AFP) and liver ultrasound for early detection of hepatocellular carcinoma (HCC) in hepatitis B surface antigen (HBsAg) carriers since 1980. Methods: We evaluated the results of surveillance between 1980 and 2012 by collecting clinic data, matched cancer registry status, and national mortality database status. Results: Of 15,235 HBsAg carriers, 238 instances of HCC (1.5% or 156.2/100,000 person-years) were detected over a mean follow-up period of 10.0 ± 7.6 years. There were more men (89.1%) and patients with liver cirrhosis (70.2%) in the HCC group (P < 0.001), and both the initial and maximal alanine aminotransferase (ALT) levels were higher in this group (P < 0.001). One hundred and thirty cases of HCC (54.6%) were identified during regular follow-up sessions, 55 (23.1%) were detected after the regular schedule had lapsed ("out-of-schedule"), and 53 (22.3%) were lost to follow-up completely. The mean tumor size was smaller in the regular group than in the outof-schedule group (2.72 cm vs. 4.59 cm, P < 0.001), and the survival rate was higher (43.8% vs. 30.9%, P < 0.001). Conclusion: The incidence of HCC was relatively low in the HBsAg-Carrier Clinics cohort. Surveillance for early diagnosis of HCC improved the survival of high-risk HBsAg carriers. To ensure cost-effectiveness, we suggest using different screening strategies according to the individual risk of hepatocarcinogenesis.

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A global perspective on hepatitis B‐related single nucleotide polymorphisms and evolution during human migration

Cited by 6 publications

References 48 publications

Host genetic factors affecting hepatitis B infection outcomes: Insights from genome-wide association studies

Host genetic factors affecting hepatitis B infection outcomes: Insights from genome-wide association studies

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

Hepatocellular carcinoma occurred in a Hepatitis B carrier clinic cohort during a mean follow up of 10 years

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