Background: The development and progression of hepatitis B (HBV)-related disease
can lead to liver cirrhosis and hepatocellular carcinoma (LC and HCC, respectively). Human leukocyte
antigen (HLA) DQ polymorphism has been reported in other recent studies to deal with the association
between HBV and liver disease. Our study on the Egyptian population was introduced to
assess the strong association between HLA-DQ polymorphism and HBV infection in addition to
the progression of HCC.
Aim: The aim of this work was to estimate HLA-DQ gene polymorphisms in HBV and HCC.
Methods: HLA-DQ genotype polymorphism was assayed by using the ABI Taq Man allelic discrimination
assay in different groups in this study. According to the relevant HLA Class II single
nucleotide polymorphism (SNP) literature, one single nucleotide polymorphism (SNPs) was selected
as the candidate site; it was an HLA-DQ, which showed minor allele frequencies AA, GA, and
Results: Haplotype analysis was performed on all the subjects in the study; AA haplotype was the
most frequent haplotype in HCC cases (18%) in comparison with HBV and healthy individuals
(3%). The haplotype GA was more frequent in the HCC group and slightly more frequent in LC
when compared to HBV only cases and also when compared to the control group. In contrast, the
GG haplotype was recorded less frequently in HCC individuals, but the HBV and LC groups
showed more frequency of this haplotype compared with the HCC group. There was a correlation
between AFP serum levels and the frequency of GA and AA polymorphism in HCC cases.
Conclusion: We found that AA and GA haplotype was significantly most frequent in HCC. Our
findings suggest that HLA-DQ AA and GG polymorphism might serve as a novel potential predictive
marker for HCC and may function in tumorigenesis of HBV.