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目的探讨血管紧张素转换酶(Angiotensin converting enzyme,ACE)基因rs4340和rs4343多态性与心房颤动(简称房颤)的相关性。方法选择重庆地区4家三甲医院就诊的102例房颤患者及同期住院的无房颤病史患者100例,抽取患者静脉血,分别提取基因组DNA,采用单核苷酸多态性-限制性片段长度多态性(Single nucleotide polymorphism,restriction fragmentlength polymorphism,SNP-RFLP)法及基因测序检测ACE基因rs4340和rs4343的基因型。结果房颤组ACE基因rs4340多态性的基因型及等位基因分布与对照组相比,差异无统计学意义(P>0.05),房颤组rs4343的基因型和等位基因分布与对照组间差异有统计学意义(P<0.001或P=0.001)。与对照组相比,房颤组GG+AG基因型频率明显高于AA基因型频率(P<0.001)。II/AA基因型在房颤组中出现的频率明显少于对照组(P=0.001),而II/AG基因型在房颤组中出现的频率明显高于对照组(P=0.002)。房颤组中rs4340和rs4343各基因型左房前后径与右房横径差异均无统计学意义(P>0.05);而将两位点联合分析发现,携带II/AA基因型房颤患者的左房前后径和右房横径均明显小于其他基因型(P<0.001),同时,携带II/AG基因型房颤患者的左房前后径和右房横径均明显大于其他基因型(P<0.001)。结论 ACE基因rs4343多态性与房颤显著相关,II/AA基因型是房颤发生发展的保护因子,而II/AG基因型是预测房颤发生发展的危险因子。
Objective To investigate the association between rs4340 and rs4343 polymorphisms of angiotensin converting enzyme (ACE) gene and atrial fibrillation (AF). Methods A total of 102 patients with atrial fibrillation who were hospitalized in 4 top three hospitals in Chongqing and 100 patients without atrial fibrillation were enrolled in this study. Venous blood was collected from patients and genomic DNA was extracted separately. Single nucleotide polymorphism (RFLP) - restriction fragment length The genotypes of ACE gene rs4340 and rs4343 were detected by single nucleotide polymorphism (restriction fragment length polymorphism, SNP-RFLP) and gene sequencing. Results The genotype and allele distribution of rs4340 polymorphism of ACE gene in AF group were not significantly different from those in control group (P> 0.05). The genotype and allele distribution of rs4343 in AF group were significantly lower than those in control group The difference was statistically significant (P <0.001 or P = 0.001). Compared with the control group, the frequency of GG + AG genotype in AF group was significantly higher than that in AA genotype (P <0.001). The frequencies of II / AA genotype in AF group were significantly lower than those in control group (P = 0.001), but the frequency of II / AG genotype in AF group was significantly higher than that in control group (P = 0.002). There were no significant differences in the left and right atrial diameters between the rs4340 and rs4343 genotypes in the AF group (P> 0.05). However, the combined analysis of the two loci showed that the genotypes of the patients with II / AA genotype The left anterior chamber diameter and right atrium diameter were significantly smaller than those of other genotypes (P <0.001). Meanwhile, the left and right atrial diameters were significantly greater in patients with II / AG AF <0.001). Conclusion The rs4343 polymorphism of ACE gene is significantly associated with atrial fibrillation. The genotype II / AA is a protective factor in the development of atrial fibrillation, while the genotype of II / AG is a predictor of atrial fibrillation.