BACKGROUND AND AIM:The miR-196a2 gene contains a C/T polymorphism (rs11614913). Its presence could change the conformation of secondary structure of miR-196a2 RNA, and directly affect the binding to target mRNAs and the miRNA maturation process. Both of which eventually alter protein expression and contributed to cancer susceptibility. This study assessed whether the rs11614913 single nucleotide polymorphism (SNP) could affect an individual's susceptibility to esophageal squamous cell carcinomas (ESCC). METHODS:SNP rs11614913 was genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) in 597 ESCC patients and 597 control subjects. RESULTS:Overall, there were no significant differences in the frequency of the miRNA-196a2 SNP rs11614913 genotype between the ESCC cases and the controls (χ(2) = 1.395, p = 0.498). The TT genotype, CT genotype and CT/TT combined genotype (dominant model) did not modify the risk of ESCC as compared with the CC genotype. Comparisons of the TT genotype to the CT/CC combined genotype did not reveal a significant association to ESCC, too. However, further analyses revealed an increased risk of ESCC in the dominant model (OR = 1.56, 95% CI = 1.08-2.26) and the allele frequency comparison (OR = 1.31, 95% CI = 1.06-1.63) in the ≤60-year-old group. CONCLUSIONS:These results suggest that the miRNA-196a2 functional polymorphism rs11614913 might be an effective genetic marker for ESCC risk assessment in individuals younger than 60 years of age from a region of high ESCC incidence in northern China.

译文

背景与目的:miR-196a2基因具有C / T多态性(rs11614913)。它的存在可以改变miR-196a2 RNA二级结构的构象,并直接影响与靶mRNA的结合以及miRNA的成熟过程。两者最终都会改变蛋白质表达,并导致癌症易感性。这项研究评估了rs11614913单核苷酸多态性(SNP)是否会影响个体对食道鳞状细胞癌(ESCC)的敏感性。
方法:采用聚合酶链反应-连接酶检测反应(PCR-LDR)对597例ESCC患者和597例对照者进行SNP rs11614913基因分型。
结果:总体上,ESCC病例与对照组之间的miRNA-196a2 SNP rs11614913基因型频率没有显着差异(χ(2)= 1.395,p = 0.498)。与CC基因型相比,TT基因型,CT基因型和CT / TT组合基因型(优势模型)没有改变ESCC的风险。 TT基因型与CT / CC组合基因型的比较也没有显示出与ESCC的显着关联。然而,进一步的分析显示,在主导模型中,食管癌的风险增加(OR = 1.56,95%CI = 1.08-2.26),等位基因频率比较(OR = 1.31,95%CI = 1.06-1.63)在≤60-岁的组。
结论:这些结果表明,miRNA-196a2功能多态性rs11614913可能是中国北方地区ESCC高发地区60岁以下人群进行ESCC风险评估的有效遗传标记。

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