线粒体D-loop区单核苷酸多态性与食管鳞状细胞癌患者发病年龄关系的研究

SINGLE NUCLEOTIDE POLYMORPHISMS IN THE MITOCHONDRIAL DISPLACEMENT LOOP AND AGE-AT-ONSET OF ESOPHAGEAL SQUAMOUS CELL CARCINOMA

目的探讨线粒体D-loop区单核苷酸多态性与食管鳞状细胞癌患者发病年龄关系。方法 2003—2005年在河北医科大学第四医院完成食管鳞状细胞癌患者线粒体D-loop区测序55例,单核苷酸多态性与患者发病年龄的关系分析采用Kaplan-Meier法,组间比较使用Log-rank检验。结果经Log-rank检验,单核苷酸多态位点16266C/T基因型与发病年龄有关,多态位点16266T基因型患者发病早于16266C基因型患者,差异有统计学意义(P<0.05)。结论线粒体DNA D-loop区基因多态性位点可作为食管鳞状细胞癌患者发病年龄的预测标记,同时线粒体D-loop区多态性位点有助于识别早发的食管鳞状细胞癌患者。

Objective To investigate the association of age - at - onset of esophageal squamous cell carcinnoma （ESCC） patients and single nucleotide polymorpyisms （SNPs） in mitochondrial Dloop. Methods The D - loop region of mtDNA was sequenced in 55 ESCC patients recorded in the Fourth Hospital of Hebei Medical University between 2003 to 2005. The age - at - onset curve was calculated with the Kaplan - Meier method and compared by the Log - rank test at each SNP site. Results The SNP sites of nucleotides 16266 C/T were correlated with age - at - onset by the Log - rank test. The onset age of patients with 16266T genotype was significantly younger than that of patients with 16266C at the 16266 site （P 〈 0. 05 ）. Conclusion Genetic polymorphisms in the D - loop are predictive markers for age - at - onset in ESCC patients. Accordingly, the analysis of genetic polymorphisms in the mitochondrial D -loop can help to identify ESCC patient subgroups at high risk of early onset.