线粒体DNA单倍群M与迟发型肝癌的关系

M haplogroup of mitocondrial DNA associated with late onset of hepatocellular carcinoma

目的近来研究发现线粒体DNA(mtDNA)非编码区D-loop区单核苷酸多态性累积与多种肿瘤的发生有关,单核苷酸多态性与肿瘤的发生和预后的关系已经被详细阐述,本研究旨在探讨mtDNA D-loop区单核苷酸多态性与肝癌患者发病年龄的关系。方法河北医科大学第四医院完成50例肝癌患者外周静脉血mtDNA D-loop区测序,单核苷酸多态性与患者发病年龄的关系分析采用Kaplan-Meier法,组间比较采用log-rank检验。结果经log-rank检验证实多态性位点235G基因和单倍群489C与迟发型肝癌有关,差异有统计学意义(χ2=5.740,P=0.05;χ2=4.810,P<0.05)。结论 mtDNA D-loop区多态性位点可作为患肝癌患者发病年龄预测标记,同时mtDNA D-loop区多态性位点有助于识别早发的肝癌患者。

Objective Accumulation of single nucleotide polymorphisms（SNPs） in the displacement loop（D-loop） of mitochondrial DNA（mtDNA） described in different types of cancers,and their association with cancer risks and disease outcome have been exhaustively identified.We investigated the age-at-onset with SNPs in mitochondrial D-loop using a population based series of hepatocellular carcinoma（HCC） patients.Methods The D-loop region of mtDNA was sequenced for 50 HCC patients recorded in the Fourth Hospital of Hebei Medical University between 2007 and 2008.The age-at-onset curve was calculated with the Kaplan-Meier method and compared by the log-rank test at each site.Results The frequent allele 235G genotype was also identified for their association with late onset of HCC（χ2=5.742,P0.05）.M haplogroup（489C） were identified for their association with late onset of HCC by the log-rank test（χ2=4.814,P0.05）.Conclusion Genetic polymorphisms in the D-loop are predictive markers for age-at-onset in HCC patients.Accordingly,the analysis of genetic polymorphisms in the mitochondrial D-loop can help identify HCC patient subgroups at high risk of early onset.