Hu W X, Ding C M, Li R J, Fan H Y, Guo Z J, Liu W
Department of Respiratory Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
Department of Gastroenterology and Hepatology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
Genet Mol Res. 2015 Mar 30;14(1):2512-7. doi: 10.4238/2015.March.30.9.
The associations between single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) and cancer risk and disease outcome have been extensively analyzed. We investigated the association between age-at-onset and SNPs in the mitochondrial D-loop using a population-based series of non-small cell lung cancer (NSCLC) patients. The D-loop region of mtDNA from NSCLC patients was amplified and sequenced. The age-at-onset curve of NSCLC patients was calculated using the Kaplan-Meier method at each SNP site and values were compared using the log-rank test. The SNP sites of nucleotides 200G/A and 16362T/C were identified to determine their association with age-at-onset of NSCLC using the log-rank test. The nucleotide 207G/A was identified for its association with age-at-onset at a borderline significance level (P = 0.060). We found that genetic polymorphisms in the D-loop were predictive markers for age-at-onset in NSCLC patients. Accordingly, the analysis of genetic polymorphisms in the mitochondrial D-loop can be used to identify NSCLC patient subgroups at high risk of early onset.
线粒体DNA（mtDNA）置换环（D-loop）中的单核苷酸多态性（SNP）与癌症风险及疾病转归之间的关联已得到广泛分析。我们使用基于人群的非小细胞肺癌（NSCLC）患者系列研究了线粒体D-loop中发病年龄与SNP之间的关联。对NSCLC患者的mtDNA的D-loop区域进行扩增和测序。在每个SNP位点使用Kaplan-Meier方法计算NSCLC患者的发病年龄曲线，并使用对数秩检验比较各值。使用对数秩检验确定核苷酸200G/A和16362T/C的SNP位点，以确定它们与NSCLC发病年龄的关联。核苷酸207G/A在临界显著性水平（P = 0.060）下被确定与发病年龄有关联。我们发现D-loop中的基因多态性是NSCLC患者发病年龄的预测标志物。因此，线粒体D-loop中基因多态性的分析可用于识别早发风险高的NSCLC患者亚组。
