Association of viral load and autophagy-related genes polymorphisms with hepatitis B virus pre-core/core mutations in chronic hepatitis B virus Iraqi patients

Introduction: Chronic hepatitis B (CHB) is a global concern due to its association with cirrhosis and hepatocellular carcinoma (HCC) development. The interplay between viral load, the immune system, and host factors is critical in tumorigenesis. Autophagy is a significant contributor to immune system function, since vitamin D plays an important role in this context. Objectives: The objective of this study was to assess the association between ATG5 (rs506027 and rs510432) and ATG16L1 (rs2241880 and ATG16 rs2241879) polymorphisms, viral load, and vitamin D with HBV pre-C/C mutations in Iraqi patients with CHB. Patients and Methods: In this cross-sectional study, a total of 134 CHB patients were evaluated for ATG polymorphisms, viral load, and vitamin D levels. Blood samples were collected after obtaining ethical consent, and the mutations were analyzed using polymerase chain reaction (PCR) followed by Sanger sequencing. Serum samples from CHB patients were used for viral load and vitamin D assessment. Results: The evaluation of patients revealed that 67 (44.6%) were male and 83 (55.4%) were female, with a mean age of 36±12.7 years and a mean duration of infection of 5.2±4.8 years. Mutations in pre-C/C were observed in 20% (27/134) of the patients. There was a significant association between all evaluated ATG polymorphisms and pre-C/C mutants (P<0.05). Furthermore, there was an association between viral load and mutations in pre-C/C (P=0.03), while no statistically significant difference was found between vitamin D levels and pre-core/core mutants or viral load. Conclusion: Our study demonstrates a higher frequency of ATG5 (rs506027 and rs510432) and ATG16L1 (rs2241880 and ATG16 rs2241879) polymorphisms, as well as a higher viral load in Iraqi CHB patients with HBV pre-C/C mutations.