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One of the most dangerous illnesses in the world today is hepatitis B virus (HBV) infection, which mainly affects the liver and can cause cirrhosis, hepatocellular carcinoma (HCC), and chronic infection. The primary goal of this study was to determine whether genotype polymorphisms at particular locations of the IL-18 promoter region may affect the host susceptibility to HBV infection in the North Indian population.
Genetic polymorphism of the IL-18 gene in the promoter region at positions -607 and -137 was performed in the North Indian population (100 controls and 100 HBV patients) using the PCR-RFLP method. Genotypic, allelic, and haplotype frequencies were compared using SHEsis software.
There were no significant differences in individual genotype or allele frequencies at positions -607 and -137 between HBV patients and controls. However, there were statistically significant differences with high frequencies of the -607A/-137C haplotype in HBV patients (p=0.010), whereas the -607C/-137C haplotype was more prevalent in controls (p=0.001), indicating a protective effect.
The individual SNPs did not show significant association, but specific haplotypes of the IL-18 promoter region may influence the risk of HBV infection. These results align partially with previous studies and suggest that haplotype-based analysis provides improved insight into genetic susceptibility.
The present study indicates that a double mutation (polymorphism) -607A/-137C in the IL-18 gene promoter region may contribute to the onset of HBV infection, while a single nucleotide polymorphism (-607C/-137C) may provide less susceptibility to HBV and may have a protective impact.