缝隙连接蛋白40基因多态性与动脉粥样硬化性脑梗死的关系

Association between connexin 40 gene polymorphisms and atherosclerotic cerebral infarction

目的探讨缝隙连接蛋白40(Cx40)基因多态性与动脉粥样硬化性脑梗死(ACI)易感性的相关性。方法采用SNa Pshot技术对342例ACI患者(病例组)和296例健康者(对照组)的Cx40基因启动子区多态性位点rs35594137进行基因型检测,采用荧光定量PCR方法检测外周血单个核细胞Cx40 mRNA相对表达水平,并分析其与rs35594137位点多态性的相关性。结果病例组rs35594137位点的基因型和等位基因频率分布与对照组比较,差异均有统计学意义(基因型:P=0.003;等位基因A vs G:P=0.001,OR=1.479);病例组Cx40 mRNA相对表达水平低于对照组(P<0.05);对照组AG+AA基因型(A等位基因携带者)的Cx40 mRNA相对表达水平低于GG基因型(P<0.05)。结论 Cx40基因启动子区多态性位点rs35594137与ACI易感性相关,A等位基因是ACI发病的危险因素。

Objective To explore the association of connexin 40（ Cx40） gene polymorphisms with susceptibility to atherosclerotic cerebral infarction（ ACI）. Methods Single nucleotide polymorphism（ SNP） rs35594137 in the promoter region of Cx40 was genotyped in 342 patients with ACI and 296 healthy controls using the SNa Pshot technique. Additionally,quantitative real-time PCR was employed to determine the levels of Cx40 mRNA expression in mononuclear cells and the relationship between the SNP rs35594137 and Cx40 mRNA expression was further analyzed. Results There were significant differences in the genotype and allele frequencies of rs35594137 between the ACI patients and controls（ genotype： P =0. 003; allele A vs G： P = 0. 001,OR = 1. 479）. The level of Cx40 mRNA expression in the ACI patients was significantly lower than in the healthy controls（ P 0. 05）. Additionally,among the healthy controls,the Cx40 mRNA expression level of AG ＋ AA genotypes（ A allele carriers） was significantly lower compared with GG genotypes（ P 0. 05）. Conclusion Conclusion The SNP rs35594137 in the promoter region of Cx40 is associated with the susceptibility to ACI,and the A allele may contribute to risk roles in the ACI patients.