RERT-lncRNA中插入/缺失多态性与结直肠癌易感性的关联性研究

An insertion/deletion polymorphism within RERT-IncRNA is associated with susceptibility for colorectal cancer in the Chinese population

目的:研究在中国徐州地区汉族人群中,RERT-IncRNA的一个4-bp插入/缺失多态性和结直肠癌(CRC)易感性的相关性。方法:应用PCR和7%非变性聚丙烯酰胺凝胶连续缓冲系统垂直电泳及银染显色方法检测汉族人群1 008例CRC患者和1 240名健康对照者插入/缺失基因型频率,经统计分析探讨其与CRC的关联性。结果:选择的患者和健康对照组人群,调整性别、年龄、吸烟、饮酒、病理分期等主要风险因素后,运用Logistic回归分析的方法对实验数据进行统计分析,统计结果显示:与4-bp Ins/Ins纯合子相比,4-bp Del/Del纯合子个体CRC易感性明显增高(OR=2.44,95%CI:1.54~3.86,P=0.0001)。病理分期状态的分层分析发现,III和IV期(OR=1.43,95%CI:1.07~1.93)较I和II期患病风险显著增高,两组之间存在明显差别(P=0.02)。结论:徐州地区汉族人群RERT-IncRNA的4-bp插入/缺失多态性与CRC易感性存在关联,这一结果对结直肠癌早期诊断具有重要意义。

Objective： To investigate the association between CRC susceptibility with a 4-bp insertion/deletion polymorphism（ rs10680577） in the the RERT-lncRNA. Methods： The genotype of RERT-lncRNA was detected by PCR,then the PCR products were separated by 7% nondenaturing polyacrylamide gel electrophoresis and visualized by silver staining. According to the final product band location and quantity to determine the genotype of sample,the final count by two different subjects. Results： Under codominant model,compared with the Ins/Ins genotype,subjects with the heterozygous Ins/Del or homozygous Del/Del had a significantly increased risk of CRC（ adjusted OR = 1. 45,P 〈0. 000 1 and OR = 2. 44,P = 0. 000 1,respectively）. Each additional copy of the 4-bp deletion allele was associated with a 47% increased risk of CRC（ OR =1. 47,95% CI： 1. 28 ~ 1. 65,P 〈0. 000 1）. In the stratification analysis,we further proved that the association was more prominent in TNM staging III and IV compared with I and II（ adjusted OR = 1. 43,95% CI： 1. 07 ~ 1. 93,P = 0. 02）. Conclusion： Our study provided initial evidence that the indel may play a functional role in development of CRC in the Chinese population.