Identification of sequence polymorphisms in the D-Loop region of mitochondrial DNA as a risk factor for gastric cancer

The accumulation of single nucleotide polymorphisms (SNPs) in the displacement loop (D-Loop) of mitochondrial DNA (mtDNA) has been identified for their association with cancer risk in different types of cancers. We investigated the gastric cancer risk profile of D-Loop SNPs in a case-control study. The frequent alleles of nucleotides 73G/A, 235A/G, 309C/C insert, 324C/G, 16,362T/C and 16,519C/T were significantly associated with an increased risk for gastric cancer, whereas the frequent alleles of nucleotides 523–524AC/del were associated with resistance to gastric cancer. In conclusion, SNPs in the mtDNA D-Loop were found to be valuable markers for gastric cancer risk evaluation.

线粒体DNA（mitochondrial DNA, mtDNA）置换环（displacement loop，D-Loop）区域的单核苷酸多态性（single nucleotide polymorphisms, SNPs）积累，已被证实与多种癌症的发病风险存在关联。本研究通过病例对照研究，探讨了线粒体DNA D环单核苷酸多态性的胃癌风险特征。研究发现，核苷酸位点73G/A、235A/G、309C/C插入、324C/G、16362T/C及16519C/T的常见等位基因，均与胃癌发病风险升高呈显著相关；而核苷酸523–524AC/缺失的常见等位基因，则与胃癌发病抵抗相关。综上，线粒体DNA D环区域的单核苷酸多态性可作为胃癌发病风险评估的有效标志物。