Nexilin基因多态性与冠状动脉病变程度的关系及机制

发布时间：2018-03-18 22:43

本文选题：Nexilin　切入点：单核苷酸多态性　出处：《中国老年学杂志》2017年04期 　论文类型：期刊论文

【摘要】：目的研究Nexilin基因多态性与冠状动脉病变程度的相关性及可能机制。方法胸痛患者573例,依据冠脉造影结果分为冠心病组344例,正常对照组229例。采用DNA序列测定技术,检测两组研究对象Nexilin基因外显子及外显子/内含子连接区的核苷酸序列。使用测序软件与Gen Bank数据库相关基因序列比对,对SNP位点进行序列分析。根据Gensini评分对冠脉病变程度进行评分,分析Nexilin位点多态性与冠脉病变程度的关系。结果通过Nexilin基因外显子SNP位点的序列分析,共发现2个SNP位点,其中1个为基因库中收录的rs1167781位点,另一个是新发现位点。对rs1167781位点G/A错义突变进行分析,发现冠心病组患者携带A等位基因的频率明显低于正常对照组(P0.01)。A等位基因频率数量随着Gensini评分增加呈明显下降趋势(P0.05)。以Gensini评分为终点事件,Logistic回归分析显示rs1167781位点突变型和冠脉病变严重程度独立相关。结论 Nexilin基因rs1167781位点多态性与冠心病患者冠状动脉病变程度存在明显相关性,为冠心病的保护因素。
[Abstract]:Objective to study the relationship between Nexilin gene polymorphism and the severity of coronary artery disease. Methods 573 patients with chest pain were divided into coronary heart disease group (344 cases) and normal control group (229 cases) according to the results of coronary angiography. The nucleotide sequences of exon and exon / intron junction region of Nexilin gene were detected in two groups of subjects. The SNP locus was sequenced. According to the Gensini score, the degree of coronary artery lesion was evaluated, and the relationship between the polymorphism of Nexilin locus and the severity of coronary artery lesion was analyzed. Results two SNP loci were found by the sequence analysis of SNP locus in the exon of Nexilin gene. One of them was a rs1167781 locus recorded in the gene pool, the other was a newly discovered locus. We analyzed the G / A missense mutation at the rs1167781 locus. It was found that the frequency of allele A in patients with coronary heart disease was significantly lower than that in the control group (P 0.01). The frequency of allele A decreased with the increase of Gensini score. Logistic regression analysis showed that the rs1167781 locus was based on the Gensini score as the end-point event and logistic regression analysis showed that the frequency of allele A was significantly lower than that of the control group. Conclusion the polymorphism of rs1167781 locus of Nexilin gene has a significant correlation with the severity of coronary artery disease in patients with coronary heart disease. It is a protective factor for coronary heart disease.
【作者单位】：广东医学院附属佛山禅城医院;
【分类号】：R541.4

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