Abstract
BackgroundAccumulated evidences indicate that single nucleotide polymorphisms (SNP) in angiogenesis and tumorigenesis related genes are associated with risk of Hepatocellular carcinoma (HCC). COL18A1 encodes the precursor of endostatin, which is a broad-spectrum angiogenesis inhibitor, and we speculate that SNPs in COL18A1 may be associated with susceptibility to HCC.Methods and FindingsWe carried out a 2-stage association study in 3 independent case-control groups in a total of 1067 chronic hepatitis B (CHB) patients and 808 hepatitis B virus (HBV) related HCC patients in Han Chinese. Four SNPs which can represent all potential functional SNPs with MAF>0.1 recorded in HapMap database were genotyped using TaqMan methods. Levels of total COL18A1 mRNA were also examined using quantitative real-time RT-PCR. We found that rs7499 located in 3′-UTR to be strongly associated with HBV related HCC (Pcombined = 0.0000005, OR = 0.72, 95%CI = 0.63–0.82). COL18A1 mRNA expression was significantly decreased as the disease progressed (P = 0.000026).ConclusionThese findings indicate that COL18A1 rs7499 may contribute to the risk of HCC in Han Chinese.
Highlights
Hepatocellular carcinoma (HCC) is one of the most common malignancy and ranks fifth in men and eighth in women among causes of cancer mortality worldwide
Genotype distributions of the studied single nucleotide polymorphisms (SNP) were in Hardy-Weinberg equilibrium (HWE) in both cases and controls
The frequency of C allele of rs7499 was 45.3% in HCC patients vs. 55.4% in chronic hepatitis B (CHB) patients (P = 0.006, OR = 0.67, 95%CI = 0.50–0.89)
Summary
Hepatocellular carcinoma (HCC) is one of the most common malignancy and ranks fifth in men and eighth in women among causes of cancer mortality worldwide. The cause of HCC is a complex interplay between multiple genetic and environmental factors [2]. On the other hand, accumulated evidences in molecular genetics indicate that single nucleotide polymorphisms (SNP) in immune response, angiogenesis and tumorigenesis related genes are associated with susceptibility to HCC [3,4,5,6]. Recent progress in genome-wide association study (GWAS) have identified new susceptibility loci for HCC [7,8]. Accumulated evidences indicate that single nucleotide polymorphisms (SNP) in angiogenesis and tumorigenesis related genes are associated with risk of Hepatocellular carcinoma (HCC). COL18A1 encodes the precursor of endostatin, which is a broad-spectrum angiogenesis inhibitor, and we speculate that SNPs in COL18A1 may be associated with susceptibility to HCC
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