miR-107基因多态性及其表达与缺血性脑卒中的相关性研究

Study of association of miR-107 gene polymorphism and its expression with ischemic stroke

目的:探讨miR-107基因rs2296616位点多态性与缺血性脑卒中(IS)易感性的关联性,检测IS患者和对照者miR-107的表达水平,并分析rs2296616多态性与miR-107的表达是否存在相关性。方法:收集349例IS患者和372例健康对照者,采用多重单碱基延伸SNP分型技术和DNA测序法检rs2296616位点的多态性。利用SYBR Green实时荧光定量PCR的方法检测IS组和对照组中miR-107的表达水平,并分析miR-107基因rs2296616多态性与miR-107表达的相关性。结果:miR-107基因rs2296616位点在IS组和对照组中均存在多态性,rs2296616多态性位点在IS组和对照组中的基因型频率分布均符合HardyWeinberg遗传平衡定律(P均>0.05)。rs2296616位点多态性在IS组和对照组男、女性别间,差异无统计学意义(P均>0.05)。无论是否校正混杂因素的影响,rs2296616多态性位点的基因型、等位基因、显性模型(GG+AG vs AA)、隐性模型(GG vs AA+AG)以及超显性模型(GG+AA vs AG)的频率分布在IS组与对照组间的差异均无统计学意义(P均>0.05)。IS组患者外周血单个核细胞中miR-107的表达水平显著高于对照组(P<0.001),但rs2296616位点不同基因型之间miR-107的表达水平差异无统计学意义(P>0.05)。结论:miR-107基因rs2296616位点多态性与IS易感性不存在关联性。IS患者外周血单个核细胞中异常增高的miR-107可能是IS诊断的潜在新型生物学标志物,但rs2296616位点多态性对miR-107的表达不具有调节性。

Objective:To investigate the relationship between miR-107 gene rs2296616 polymorphism and ischemic stroke(IS)susceptibility.To investigate the expression of miR-107 in IS patients and healthy controls and analyze the association between rs2296616 polymorphism and the expression of miR-107.Methods:rs2296616 polymorphism in 349 IS patients and 372 healthy controls were genotyped by SNaPshot and DNA sequencing method.The expression level of miR-107 in IS group and control group was detected by SYBR Green real-time quantitative PCR and the correlation between rs2296616 polymorphism and miR-107 expression was analyzed.Results:There existed miR-107 rs2296616 gene polymorphism both in IS group and control group.The distribution of rs2296616 gene polymorphism in IS and control groups were in HWE(both P>0.05).There was no significant difference in rs2296616 polymorphism between male and female in IS and control groups(both P>0.05).Whether or not to adjust for confounding factors,frequency distribution of rs2296616 genotype,allele,dominant model(GG+AG vs AA),invisibility model(GG vs AA+AG)and Hyper-dominant model(GG+AA vs AG)were not statistically significant between the IS and control groups(both P>0.05).While the expression level of miR-107 in peripheral blood mononuclear cells in IS group was significantly higher than that in the control group(P<0.001),there was no statistical difference in the expression level of miR-107 between different genotypes of rs2296616 group(P>0.05).Conclusion:miR-107 gene rs2296616 polymorphism is not associated with IS susceptibility.The abnormal increased miR107 in stroke patients may be a potential biomarker for IS.However,the polymorphism of rs2296616 does not regulate miR-107 expression.