PRDM1 rs1010273 polymorphism is associated with overall survival of patients with hepatitis B virus-related hepatocellular carcinoma.

T cell exhaustion is involved in the pathogenesis of chronic hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC). B lymphocyte-induced maturation protein 1 (BLIMP-1), encoded by the PRDM1 gene, plays a crucial role in T cell exhaustion. This study investigated PRDM1 rs1010273 and rs2185379 polymorphisms in 403 patients with chronic HBV infection (171 chronic hepatitis, 119 liver cirrhosis and 113 HCC), 70 spontaneous HBV infection resolvers and 196 healthy controls. The results showed that the rs1010273 and rs2185379 polymorphisms had no significant differences between patients with chronic HBV infection and healthy controls or between patients with different clinical diseases. However, PRDM1 rs1010273 polymorphism was shown to be significantly associated with the overall survival of patients with HBV-related HCC. The 1-, 3-, and 5-year survival rates of HCC patients were 70.5%, 34.6%, and 11.5%, respectively, in genotype GG carriers and 91.4%, 51.4% and 31.4%, respectively, in genotypes AA + GA carriers (p =  0.008). Multivariate analysis showed that PRDM1 rs1010273 polymorphism was an independent factor associated with the overall survival of patients with HCC (odds ratio, 0.529; 95% confidence interval, 0.126-0.862; p =  0.002). These results provide novel evidence for a role of PRDM1 rs1010273 in the pathogenesis of HBV-related HCC. Additional studies are needed to replicate and extend the findings of this study and to elucidate the underlying mechanisms.