GUCY 1A3 基因位点rs7692387 单核苷酸多态性与冠状动脉粥样硬化性心脏病的相关性研究

目的 探讨GUCY 1A 3 基因位点rs7692387 单核苷酸多态性与冠状动脉粥样硬化性心脏病（冠心病）的相关性。方法 选取延边大学附属医院收集延边地区汉族冠心病患者204 例（冠心病组）以及健康体检的正常人群201 例（对照组）。采用基于荧光标记单碱基延伸原理的SNaPshot 技术对GUCY 1A 3 基因位点rs7692387 单核苷酸多态性进行分型检测。结果 冠心病组和对照组的GUCY 1A 3 基因位点rs7692387 的基因型分布均符合Hardy-Weinberg 平衡定律。冠心病组GG 基因型频率高于对照组，而对照组GA +AA 基因型频率高于冠心病组，差异有统计学意义（P <0.05）。G 和A 两等位基因频率分布差异亦有统计学意义（P <0.05）。应用Logistic 回归分析调整混杂因素，差异有统计学意义（P <0.05），并发现GUCY 1A 3 基因位点rs7692387 的GG 基因型可增加冠心病的患病风险（O^R=1.543，95%CI ：1.022，2.327，P =0.039），而A 等位基因可降低冠心病的患病风险（O^R=0.691，95%CI ：0.494，0.968，P =0.031）。结论 延边地区汉族人群GUCY 1A 3 基因位点rs7692387 单核苷酸多态性可能与冠心病具有相关性，其GG 基因型很可能是冠心病发病的易感基因型，而A等位基因可能是冠心病的保护性基因。

Effect of single nucleotide polymorphisms at rs7692387 site of GUCY1A3 gene on coronary atherosclerotic heart disease

Objective To investigate the correlation between single nucleotide polymorphisms at rs7692387 site of GUCY1A3 gene and coronary atherosclerotic heart disease (CAD). Methods Totally 204 patients with CAD (CAD group) and 201 healthy volunteers (control group) from Yanbian Han population of Yanbian University Hospital were involved in this study. SNaPshot technique was utilized to identify single nucleotide polymorphisms at rs7692387 site of GUCY1A3 gene. Statistical analysis was performed for the association between polymorphisms and CAD. Results The genotype frequency at rs7692387 site of GUCY1A3 gene in both groups fitted the Hardy-Weinberg equilibriumin. Frequency of GG genotype in the CAD group was significantly higher than that in the control group (P < 0.05), while frequency of GA + AA genotype in the control group was dramatically higher than that in CAD group (P < 0.05). G and A allele were differently distributed in two groups (P < 0.05). GG genotype at rs7692387 site of GUCY1A3 gene increased risk of CAD (O^R = 543, 95% CI = 1.022, 2.327, P = 0.039) while the A allele could reduce the risk of CAD (O^R = 0.691, 95% CI = 0.494, 0.968, P = 0.031). Logistic regression analysis plus adjustments for the confounding factors confirmed these results. Conclusion Single nucleotide polymorphisms at rs7692387 site of GUCY1A3 gene is associated with CAD in Yanbian Han population, and GG genotype is potentially detrimental while A allele may be beneficial for occurrence of CAD.