缝隙连接蛋白43基因多态性与大动脉粥样硬化型脑梗死的相关性研究

Association between connexin 43 gene polymorphisms and atherosclerotic cerebral infarction

目的分析缝隙连接蛋白43(Cx43)基因多态性与大动脉粥样硬化型脑梗死(ACI)的关系。方法采用SNaPshot技术对300例ACI患者(病例组)和300例健康体检者(对照组)的Cx43基因启动子区rs2071166多态性位点进行基因型检测,采用荧光定量PCR检测外周血单个核细胞Cx43 mRNA相对表达量,并分析其与rs2071166位点基因型的关系。结果病例组rs2071166位点的等位基因和基因型频率分布与对照组相比差异均有统计学意义(等位基因C vs.A:OR=1.569,P=0.001;基因型AA vs.AC vs.CC:P=0.008);病例组Cx43 mRNA相对表达量明显低于对照组(P<0.05);对照组CC+AC基因型(C等位基因携带者)的Cx43 mRNA相对表达量明显低于AA基因型(P<0.05)。结论Cx43基因启动子区rs2071166位点与ACI易感性相关,C等位基因可能是ACI发病的危险因素。

Objective To analyze the relationship of connexin 43(Cx43)gene polymorphisms with atherosclerotic cerebral infarction(ACI).Methods The SNP rs2071166 in the Cx43 promoter was genotyped in 300 ACI patients and 300 healthy controls by using SNaPshot technique.Quantitative real-time PCR was employed to evaluate the levels of Cx43 mRNA expression in mononuclear cells,and the association of the SNP rs2071166 with Cx43 mRNA expression was further analyzed.Results There were significant differences in the allele and genotype frequencies of the SNP rs2071166 between the ACI patients and controls(allele C vs.A:P=0.001,OR=1.569;genotype AA vs.AC vs.CC:P=0.008).Cx43 mRNA level in ACI patients was significantly lower than that in healthy controls(P<0.05).Additionally,Cx43 m RNA expression level in healthy controls with CC/AC genotypes(C allele carriers)of the SNP rs2071166 was significantly lower than that in controls with AA genotypes(P<0.05).Conclusion SNP rs2071166 in Cx43 promoter is associated with the susceptibility to ACI,and the C allele may be a potential risk factor in ACI patients.