Abstract:

Objective To investigate the correlation between polymorphism at rs2298141 in the integrin β1（ITGβ1）gene and susceptibility of families in Guangxi to hepatocellular carcinoma（HCC）. Methods In this study，20 HCC family groups comprising 79 members served as cases，and 10 normal family groups comprising 40 members served as controls. Time-of-flight mass spectrometry was used to determine genotype frequencies at rs2298141，and possible correlations between genotype and HCC risk were explored using non-conditional logistic regression. Results AA，AG and GG genotypes were detected at rs2298141，and their frequencies followed Hardy-Weinberg equilibrium. Frequencies of alleles A and G at rs2298141 were similar among controls，core individuals in HCC families and HCC patients （allele A：63.75%，61.02%，70%；allele G：36.25%，38.98%，30%；P>0.05）. Relative to risk of HCC in individuals with allele A，risk of HCC in controls with allele G was 0.75（95%CI 0.33-1.7，P=0.50）. Relative to risk of HCC in families with allele A，risk of HCC in HCC families with allele G was 0.67（95%CI 0.31-1.45，P=0.31）. AA，AG，and GG genotypes occurred at respective frequencies of 40%，42.73%，and 50% among controls；47.5%，37.29%，and 40% among core individuals in HCC families；and 12.5%，20.34%，and 10%among HCC patients（P>0.05）. The corresponding frequencies of genotypes AA，AG and GG in the three groups was 40.00%，47.50% and 12.50%；50.00%，42.73%，37.29% and 20.34%；and 50%，40% and 10%. Allele distributions did not differ significantly between cases and controls. Relative to risk of HCC in individuals with the AA genotype, risk of HCC in control families with genotypes AG or GG was，respectively，0.67 （95%CI 0.22-2.1，P=0.50） and 1.05（95%CI 0.17-6.6，P=0.96）, while the risk of HCC in HCC families with genotypes AG or GG was, respectively, 0.9（95%CI 0.31-2.71，P=0.86） and 2.2（95%CI 0.40-11.96，P=0.37）. Conclusion The ITGβ1 rs2298141 polymorphism does not appear to correlate with susceptibility to HCC based on family clustering in Fusui County，Guangxi.

Key words:  Liver neoplasms, ITGβ1 gene, Single nucleotide polymorphism, Family clustering, Genetic susceptibility