Department of Molecular Biology and.
Biomarkers. 2014 Feb;19(1):43-8. doi: 10.3109/1354750X.2013.866164. Epub 2013 Dec 10.
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).
SNP rs11614913 was genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) in 597 ESCC patients and 597 control subjects.
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.
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.
miR-196a2 基因包含 C/T 多态性(rs11614913)。它的存在可能会改变 miR-196a2 RNA 二级结构的构象,并直接影响与靶 mRNAs 的结合以及 miRNA 成熟过程。所有这些最终都会改变蛋白质表达并导致癌症易感性。本研究评估了 rs11614913 单核苷酸多态性(SNP)是否会影响个体患食管鳞状细胞癌(ESCC)的易感性。
通过聚合酶链反应连接酶检测反应(PCR-LDR)对 597 例 ESCC 患者和 597 例对照者的 SNP rs11614913 进行基因分型。
总体而言,ESCC 病例和对照组之间 miRNA-196a2 SNP rs11614913 基因型的频率无显著差异(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(显性模型)并未改变 ESCC 的风险。将 TT 基因型与 CT/CC 组合基因型进行比较,也未发现与 ESCC 显著相关。然而,进一步的分析显示,在≤60 岁年龄组中,显性模型(OR = 1.56,95% CI = 1.08-2.26)和等位基因频率比较(OR = 1.31,95% CI = 1.06-1.63)均显示 ESCC 的风险增加。
这些结果表明,miR-196a2 功能多态性 rs11614913 可能是中国北方高发地区 60 岁以下个体 ESCC 风险评估的有效遗传标志物。