BER修复基因多态性与肺癌易感性的研究进展

碱基切除修复(base excision repair,BER)通路是DNA损伤修复的关键通路,通路中的8-羟基鸟嘌呤DNA糖苷酶基因(human 8-oxoguanine glycosylase,hOGG1),人类X线交叉互补修复基因(X-ray repair cross-complementing group 1,XRCC1),MutY homolog(MUTYH)基因的单核苷酸多态性影响BER通路中重要的酶和蛋白质的功能,导致修复障碍,最终引起癌症发生.DNA损伤修复基因单核苷酸多态性和肺癌易感性的研究结果尚存在争议,本文对近年来BER通路基因hOGG1Ser326Cys,XRCC1 Arg194Trp,XRCC1 Arg280His,XRCC1 Arg399Gln,XRCC1-77T>C和MUTYHHis324Gln多态性与肺癌易感性的关系的研究进行汇总,并探讨了多项研究对BER基因多态性与不同肺癌亚型的关系以及与吸烟之间关系.基因多态性与肺癌易感性关系受多因素影响,其相关性尚待进一步探索.

Polymorphisms of the DNA repair gene and lung cancer susceptibility

Genetic polymorphisms in DNA repair genes are thought to modulate DNA repair capacity and are suggested to be related to cancer risk. BER pathway, key pathway in the DNA damage repair, is affected by the single nucleotide polymorphisms (SNPs) of some key enzymes genes. Human 8-oxoguanine glycosy-lase(hOGG1) gene, x-ray repair cross-complementing group 1(XRCC1) gene and MutY homolog (MUTYH) gene are involved in. However, the results of epidemiologic findings have been inconsistent. The author reviewed all published paper which analyzed associations between genes in the base excision repair pathway and lung cancer risk, mainly focusing on hOGG1 Ser326Cys, XRCC1 Arg194Trp, XRCC1 Arg280His, XRCC1 Arg399Gln, XRCC1-77T>C and MUTYHHis324Gln. Also, the author abstracted and analyzed information on genetic variations in BER pathway associating with different pathological type of lung cancer risk and smoking status. There were so many factors that affected the association between gene polymorphisms and lung cancer risk, and more researches are needed to further explore.