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

Int J Clin Exp Pathol. 2019 Aug 1;12(8):3063-3069. eCollection 2019.

Abstract

Background & aims: 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.

Methods: 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.

Results: 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.

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

Keywords: Case-control study; primary hepatic cancer; single nucleotide polymorphisms; susceptibility.