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Published on: November 7, 2018
Mutation analysis of DC-SIGN promoter in chronic hepatitis B patients
Li Chen1, Congzhi Li, Xiujuan Meng
1Department of Infectious Diseases, Xiangya Hospital, Central South University, Changsha 410008, China.
Insights
Specific mutations in the DC-SIGN promoter region were identified in chronic hepatitis B (CHB) patients. The -336C mutation may increase CHB risk, while -139T may offer protection against hepatitis B virus (HBV) infection.
Area of Science:
- Immunogenetics
- Hepatology
- Virology
Background:
- Dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin (DC-SIGN) plays a role in immune responses.
- Hepatitis B virus (HBV) infection can lead to chronic hepatitis B (CHB).
- Genetic variations in immune-related genes may influence susceptibility to HBV infection and disease progression.
Purpose of the Study:
- To investigate mutations in the DC-SIGN promoter region in CHB patients and healthy individuals with prior HBV exposure.
- To explore the association between DC-SIGN promoter mutations and HBV infection status.
Main Methods:
- Comparative analysis of DC-SIGN promoter sequences from 47 CHB patients and 20 healthy HBV-exposed individuals.
- Polymerase Chain Reaction (PCR), single-stranded conformational polymorphism, heteroduplex analysis, cloning, and sequencing were employed.
- Sequences were aligned with the published DC-SIGN promoter sequence for mutation identification.
Main Results:
- Characteristic mutations in the DC-SIGN promoter region were observed in HBV-infected individuals.
- Four hot spot mutations (-139, -142, -222, -336) were identified in CHB patients, compared to one (-139) in healthy controls.
- The -336C mutation was present in 23.40% of CHB patients but absent in healthy controls.
- The -139T allele was significantly more frequent in healthy controls (100%) than in CHB patients (34.04%).
Conclusions:
- The -336C mutation in the DC-SIGN promoter may represent a genetic risk factor for developing CHB.
- -139T allele in the DC-SIGN promoter might be associated with protection against HBV infection.
Objective:
To investigate whether there is mutation in DC-SIGN promoter region in patients with chronic hepatitis B (CHB) and healthy persons previously infected with hepatitis B virus (HBV) and to explore the relationship between the mutation in dendritic cell-specific intercellular adhension molecule-3-grabbing nonintegrin (DC-SIGN) promoter region and HBV.
Methods:
The studied population was composed of two cohorts: 47 CHB patients and 20 healthy persons previously infected with HBV. The mutation in DC-SIGN promoter region was detected with PCR, single-stranded conformational polymorphism and heteroduplex analysis, cloning, sequencing and aligning the published DC-SIGN promoter sequence.
Results:
The characteristic mutation within DC-SIGN promoter region in HBV infected individuals was observed. In the DC-SIGN promoter region, 4 hot spot mutations located in positions -139, -142, -222, and -336 were observed in the CHB patients, but only 1 spot mutation located in position -139 was observed in the healthy persons previously infected with HBV. The -336C which was absent in the healthy persons previously infected with HBV was shown in 11 CHB patients (23.40%). The -139T was far more frequent in the healthy persons previously infected with HBV (100%) than in the CHB patients (34.04%).
Conclusion:
In the DC-SIGN promoter region, -336C may be a genetic risk factor for developing CHB, but -139T may be associated with protection against HBV.
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