The autophagy gene ATG16L1 (T300A) variant is associated with the risk and progression of HBV infection

Autophagy pathway genes variants that play crucial roles in immune responses are involved in many diseases but their role in viral diseases is ill-defined. ATG16L1 gene plays a crucial role in the autophagy process. In this study, we have investigated the role of ATG16L1 variant T300A in the risk of HBV infection. rs2241880 (T300A) variant in 551 HBV infected patients (at various stages of infection) and 247 healthy controls were genotyped applying PCR-RFLP. Data analysis revealed that mutant allele G contributes to the risk of hepatitis B infection. Mutant alleles were significantly associated the HBV risk in allelic (OR = 1.31; 95%CI = 1.06–1.63, p = .01) and homozygous (OR = 1.87; 95%CI = 1.17–2.99, p = .009) models. On stratifying HBV infected individuals according to the stage of infection, a significant association was observed in asymptomatic (allelic; OR = 1.52; 95%CI = 1.10–2.09, p = .01 and homozygous; OR = 2.30; 95%CI = 1.22–4.36, p = .01) and chronic (allelic; OR = 1.36; 95%CI = 1.07–1.73, p = .01 and homozygous; OR = 2.07; 95%CI = 1.22–3.53, p = .008) stages of infection. High HBV DNA levels were associated with mutant genotype GG in asymptomatic and chronic carriers. Significantly higher ALT levels were observed in the liver cirrhosis patients with mutant genotypes. In conclusion, our data suggest that rs2241880 mutant allele carriers (allelic and homozygous models) were associated with increased risk of hepatitis B virus infection in North Indian population. [Display omitted] •rs2241880 mutant allele contributes to the risk of hepatitis B virus infection.•Viral load was associated with genotype GG in asymptomatic and chronic carriers.•Higher ALT levels were observed in liver cirrhosis patients with mutant genotypes.•T300A might be an important factor involved in the progression of liver cancer.