DNA修复基因RAD52 miRNA靶序列单核苷酸多态性与肝细胞癌遗传易感性研究

目的 探讨DNA修复基因RAD52 3'非翻译区（3'- untranslated region，3'-UTR）miRNA靶序列单核苷酸多态性（single nucleotide polymorphism，SNP）与广西地区人群肝细胞癌（hepatocellular carcinoma，HCC）遗传易感性的关系。方法 采用病例- 对照研究，对1 002例确诊的HCC新发病例和1 013例非肿瘤患者RAD52基因3'-UTR区域miRNA靶序列SNPs （rs1051669、rs1051672、rs7301931和rs7310449）进行基因分型，并分析其基因型频率分布及其与HCC遗传易感性的关系。结果 RAD52基因各SNP基因型在病例组和对照组中的分布频率差异均无统计学意义（P>0.05）。调整年龄、性别、吸烟、饮酒和HBV感染等因素后，未发现各SNP与HCC易感性有关联；分层分析发现，在女性人群中，与携带rs1051669 C等位基因相比，TT基因型可显著降低个体罹患HCC的风险（TT vs CT/CC：OR=0.03，95%CI：0.00~0.62，P=0.03）；与携带rs1051672 G等位基因相比，AA基因型可显著降低个体罹患HCC的风险（AA vs GA/GG：OR=0.03，95%CI：0.01~0.88，P=0.04）。结论 RAD52基因3'- UTR区域miRNA靶序列SNPs rs1051669、rs1051672位点可能与广西地区女性人群HCC易感性有关。

Single nucleotide polymorphisms in DNA repair gene RAD52 miRNA target sequence and susceptibility to hepatocellular carcinoma

Objective To investigate the DNA repair gene RAD52 3'- untranslated region （3'- UTR） miRNA target sequence polymor- phisms and susceptibility to hepatocellular carcinoma（HCC） in Guangxi population. Methods A case- control study of 1，002 HCC cases and 1，013 cancer- free controls was performed.miRNA target sequence SNPs（rs1051669，rs1051672，rs7301931 and rs7310449） in the RAD52 gene 3'- UTR region were genotyped to analyze the relationship between the distribution frequency of SNP genotypes and genetic susceptibility to HCC. Results There was no significant difference in the distribution frequency of the SNP genotypes in the RAD52 between the case group and the controls（P>0.05）.After adjusting for age，sex，smoking，alcohol consumption and HBV infection，no significant association was found between the SNP genotypes and HCC susceptibility. Further stratification analysis showed that，compared with the rs1051669 C allele carrying genotypes，TT genotype can significantly reduce the risk of individuals suffering from HCC（TT vs CT/CC：OR=0.03，95%CI：0.00- 0.62，P=0.03），and compared with rs1051672 G alleles carrying genotypes，the AA genotype can significantly reduced the risk of HCC（AA vs GA/GG：OR=0.03，95%CI：0.01- 0.88，P=0.04） in the female. Conclusions RAD52 gene 3'- UTR region miRNA target sequence SNPs rs1051669 and rs1051672 might be associated with HCC susceptibility in female of Guangxi area.