miRNA196a2基因多态与食管鳞状上皮细胞癌相关性研究

目的:探讨miR-196a2基因(rs11614913)多态性及吸烟﹑饮酒在食管鳞癌发病中的交互作用,为食管鳞癌高危人群的筛选提供依据。方法:样品来自南通大学附属医院和南通市肿瘤医院病理检查确诊为食管鳞癌152例患者与同时期入住的152例非肿瘤患者或体检中心健康对照。抽取随机静脉血2 mL,提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,检测miR-196a2的基因rs11614913位点的多态性,同时调查各研究对象的吸烟、饮酒情况,并结合基因多态性将上述因素进行分层分析。结果:携带突变型纯合子C/C基因型个体罹患食管鳞癌风险是携带野生型纯合子T/T基因型个体2.108倍(95%CI=1.032～4.305),差异有统计学意义(P=0.041)。结论:miR-196a2的基因rs11614913位点为突变型纯合子C/C或携带C等位基因者,罹患食管鳞癌风险增加,很可能是食管鳞癌发病的重要危险因素之一。

The relationship between the single nucleotide polymorphism of miR-196a2 gene with esophageal squamous cell carionma

Objective: To explore the relationships between single nucleotide polymorphism(SNP) of miR-196a2(rs11614913) and the esophageal squamous cell carionma(ESCC).Methods: There were 152 ESCC patients(aged 38-88) and 152 health controls(aged 38-87) enrolled from January 2010 to January 2012.The patients were consecutively recruited from the Nantong Tumor Hospital and Affiliated Hospital of Nantong University.The health controls were recruited from the general physical examination center.All the enrolled subjects were no blood relationship.2 mL of peripheral blood was taken from all the subjects for the DNA extraction.Then,the genomic DNA was extracted from the blood.The genotypes of miRNA-196a2(rs11614913) were analyzed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphisms(PCR-RFLP) and the relationship between miRNA-196a2 polymorphism(rs11614913) and the ESCC in Chinese Han populations were analyzed by logistic regression.Results: Compared with the T/T genotype,the risk of ESCC significantly increased in individuals with the C/C genotype(OR=2.108,95%CI=1.032-4.305,P=0.041).In addition,compared with the T allele(C/T+T/T),the risk of ESCC significantly increased in the individuals with the C/C genotype(OR=2.062,95% CI=1.053-4.041,P=0.035).Conclusions: The polymorphism of miR-196a2 gene(rs11614913) contributed to the susceptibility of ESCC.In miR-196a2 gene(rs11614913),carrying the C allele significantly increased the risk of ESCC.