染色体9p21上rs2383206单核苷酸多态性与冠脉病变Gensini积分的关系  

Relationship between rs2383206 SNP on chromosome 9p21 and Gensini score of coronary artery disease

作　　者：孙帅[1,2] 翁建新[2] 陈竹君[3] 罗建方 

机构地区：[1]云南省第一人民医院,云南昆明650032 [2]深圳市孙逸仙心血管医院心内科,广东深圳518100 [3]广东省人民医院心血管研究所心内科,广东广州510080

出　　处：《中国临床研究》2016年第6期753-755,共3页Chinese Journal of Clinical Research

基　　金：云南省应用基础研究计划面上项目(2012FB202)

摘　　要：目的探讨染色体9p21上rs2383206位点的单核苷酸多态性与冠状动脉（冠脉）病变严重程度的关系。方法连续收集2010年12月至2012年12月行冠脉造影术诊断为冠心病的患者（冠心病组）200例,同期冠脉造影正常者150例（对照组）。抽取静脉血,硅珠法提取基因组DNA;采用PCR-SNP Stream技术对rs2383206位点进行多态性分型,对冠心病患者冠脉造影结果进行Gensini积分评定,分析两者的关系。结果冠心病组rs2383206位点G等位基因频率（53.0%vs 42.0%）以及AG（42.0%vs 38.7%）、GG基因型分布频率（32.0%vs 24.7%）均高于对照组（P均〈0.05）。与AA基因型相比,AG、GG基因型Gensini积分明显升高（P均〈0.01）。与AA基因型相比,AG、GG基因型显著增加冠心病风险（OR=1.428,95%CI：1.048~1.947,P=0.024）。结论 rs2383206位点G等位基因为冠心病患病的危险等位基因,GG基因型可能为冠心病易感相关的危险基因型。AG、GG基因型与冠脉病变严重程度呈正相关。Objective To investigate the relationship between rs2383206 single nucleotide polymorphism（ SNP） on chromosome 9p21 and the severity degree of coronary artery disease（ CHD）. Methods A total of 200 patients with CHD diagnosed by coronary angiography were consecutively collected from December 2010 to December 2012（ CHD group）,and the subjects with normal coronary angiography at the same period were served as control group（ n = 150）. Genomic DNA was extracted from venous blood sampling by silica bead method. The polymorphic typing of rs2383206 locus was analyzed by PCR-SNP stream technique. Gensini score was made to evaluate the results of coronary angiography of CHD patients,and the relationship between them was analyzed. Results Compared with control group,the G allele frequency（ 53. 0% vs42. 0%）,AG genotype distribution frequency（ 42. 0% vs 38. 7%） and GG genotype distribution frequency（ 32. 0% vs24. 7%） at rs2383206 locus in CHD group significantly increased（ all P 0. 05）. Compared with AA genotype,the Gensini scores of AG and GG genotypes in CHD group significantly increased（ all P 0. 05）. Compared with AA genotype,the CHD risk in AG and GG genotypes significantly increased（ OR： 1. 428,95% CI： 1. 048- 1. 947,P = 0. 024]. Conclusions G allele at rs2383206 locus is the risk allele for CHD patients. GG genotype may be the risk genotype associated with susceptibility to CHD. AG genotype and GG genotype are positively correlated with the severity of CHD.

关 键 词：染色体 位点 单核苷酸多态性 冠心病 GENSINI积分 

分 类 号：R541.4[医药卫生—心血管疾病]