miR-196a2单核苷酸多态性与白血病发病风险的初步研究

摘要

背景与目的：miR-196a2在肿瘤的发生、发展中起类似于原癌基因的生物学功能。其表达升高会促进肿瘤细胞的增殖、侵袭和转移，有望成为重要的肿瘤标志物。该研究旨在探讨miR-196a2基因多态性位点rs11614913与白血病发病风险的关系。方法：采用病例-对照分析方法，收集2009年1月—2015年7月在烟台山医院检查确诊的210例白血病患者(病例组)及同期体格检查健康的250名正常体检者(对照组)的骨髓血或外周血，限制性片段长度多态性聚合酶链反应技术(polymerase chain reaction-restriction fragment length polymorphism， PCR-RFLP)检测miR-196a2基因多态性位点rs11614913的基因型，应用χ2检验比较各基因型频率在病例组和对照组中的差异，采用Logistic回归分析计算SNP的等位基因的比值比(odds ratio，OR)和95%CI表示各基因型发生白血病的风险度。结果：病例组和对照组相比，miR-196a2 rs11614913的T/T、C/C、C/T基因型频率的分布差异有统计学意义(P<0.05)，携带突变型纯合子C/C基因型的个体患白血病风险是野生纯合子T/T基因型个体的2.661倍，差异有统计学意义(P<0.05)。结论：miR-196a2基因多态性位点rs11614913与白血病发病风险有关，突变型纯合子C/C或携带C等位基因可能是白血病发生的危险因素。%Background and purpose:miR-196a2 functions as an oncogene during tumor initiation and pro-gression. The up-regulation promotes tumor cell proliferation, invasion and metastasis. Therefore, it is promising to be an important tumor biomarker. The aim of this study was to investigate whether rs11614913, a gene polymorphic site ofmiR-196a2, is associated with the risk of leukemia.Methods:A case-control analysis was employed. Bone marrow or periph-eral blood was collected from 210 leukemia patients diagnosed from Jan. 2009 to Jul. 2015 in Yantaishan Hospital (case group) as well as 250 healthy people who were physically examined during the same period (control group). Polymerase chain reaction-restriction fragment length polymorphism (PCR-PFLP) was used to detect the genotype of rs11614913. Application test was used to compare the difference in the frequency of each genotype between case group and control group. The odds ratio (OR) of SNP allelic genes was calculated using logistic regression analysis and 95%CI represented the risk of leukemia for each genotype.Results:The distribution differences in the frequency of T/T, C/C, C/T genotype of miR-196a2 rs11614913 between case group and control group were statistically significant (P<0.05). The risk of leukemia for individuals who carried mutant homozygous C/C was 2.661-fold higher than those carried wild-type homozygous T/T, and the difference was statistically significant (P<0.05).Conclusion:ThemiR-196a2 gene polymorphic site rs11614913 was associated with the risk of leukemia. Mutant homozygous C/C or C allelic gene carrying was probably a risk factor for leukemia.