Abstract
BACKGROUND AND OBJECTIVES: Hepatitis B virus (HBV) infection remains a major global health burden, with disease progression influenced by host genetic and immune factors, including variants in the mannose-binding lectin 2 (MBL2) gene. This study aimed to evaluate the association between MBL2 polymorphisms and clinical outcomes of HBV infection in a cohort from Burkina Faso. METHOD: A total of 74 participants were recruited in 2022, including individuals with chronic hepatitis B (CHB, N = 12), hepatocellular carcinoma (HCC, N = 28), cirrhosis (N = 12) and resolved hepatitis B (n = 22). Genotyping of MBL2 promoter polymorphisms (rs11003125 and rs7096206) was performed using real-time PCR (QuantStudio 5). Statistical analyses were conducted using SPSS v20 and Epi Info v7.5.2.0, with significance defined as p < 0.05 (Fisher's exact test). RESULTS: For rs11003125, the GC heterozygous genotype predominated (77%), followed by GG (16.2%) and CC (6.7%). For rs7096206, genotype frequencies were 43.2% (CC), 28.4% (CG) and 28.4% (GG). The rs7096206 GG genotype and G allele were strongly associated with infection resolution (OR = 0.02, 95% CI: 0.0002-0.3, p < 0.001; and OR = 0.06, 95% CI: 0.01-0.2, p < 0.001, respectively), and with reduced risk of progression from cirrhosis to HCC (OR = 0.25, 95% CI: 0.09-0.7, p = 0.009). Additionally, the rs11003125 C allele was associated with a decreased risk of progression to HCC (OR = 0.3, 95% CI: 0.1-0.7, p = 0.01). CONCLUSION: From an exploratory perspective, the analysis of the rs11003125 and rs7096206 polymorphisms located in the promoter region of the MBL2 gene suggests their possible involvement in the progression of HBV infection. These preliminary results support the hypothesis of a potential functional role of this gene in HBV pathogenesis, while highlighting the need for further studies to confirm and clarify these associations.