A single nucleotide polymorphism CTSB rs12898 is associated with primary hepatic cancer in a Chinese population

Primary hepatic cancer (PHC) is a common malignant tumor and the third most frequent cause of cancer-related death worldwide. However, the molecular mechanisms underlying hepatic cancer remain unknown. CTSB is considered a biomarker of cancer as it can facilitate tumor progression. We aimed to investigate the association between genetic polymorphisms of potential regulatory SNPs in the CTSB gene and PHC.

The relationship between CTSB rs12898 and PHC was analyzed in a case-control study with a Chinese population of 608 PHC patients and 608 healthy individuals using SPSS 21.0.

PHC was significantly associated with alcohol consumption (P < 0.001), history of hepatitis (P < 0.001), and liver cirrhosis (P < 0.001), but not with smoking (P = 0.168), age (P = 0.175), or sex (P = 0.051). Distribution of three genotypes (GG, GA, and AA) of CTSB rs12898 significantly differed between the cases and controls (P < 0.001). Compared with the GG genotype, the GA and AA genotype was associated with a significantly increased risk of PHC (OR = 1.425, 95% CI = 1.099-1.848, P = 0.007; and OR = 2.220, 95% CI = 1.574-3.132, P < 0.001, respectively). CTSB rs12898 was associated with a significantly increased risk of PHC under a dominant model (OR = 1.592, 95% CI = 1.243-2.040, P < 0.001), and under a recessive model (OR = 1.771, 95% CI = 1.311-2.393, P < 0.001) for the variant A allele.

Results suggest that CTSB rs12898G > A may play a role in the pathogenesis of PHC, and may be a marker for susceptibility to PHC.