染色体12q24.31单核苷酸多态性与冠状动脉粥样硬化性心脏病遗传易感性的关联研究

目的 探讨中国西南地区汉族人群染色体12q24.31 rs2259816基因多态性与冠状动脉粥样硬化性心脏病(简称冠心病)的相关性.方法 收集592例经冠状动脉造影确诊的冠心病患者及同期冠状动脉造影阴性、排除冠心病诊断的463名正常对照,采用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polymorphism,PCR-RFLP)技术分析染色体12q24.31 rs2259816单核苷酸多态性,比较两组间rs2259816位点等位基因和基因型频率分布差异.结果 冠心病组与对照组中均检出AA、AC、CC基因型.rs2259816等位基因A在冠心病组的频率为49.5%,高于对照组的频率43.8%,两组差异有统计学意义(OR=1.129,95%CI:1.029～1.239,P=0.010).结论 中国西南地区汉族人群染色体12q24.31 rs2259816基因多态性与冠心病发生风险密切相关.

Association of single nucleotide polymorphism on chromosome 12q24.31 with susceptibility to coronary artery disease

Objective To determine whether the single nucleotide polyrnorphism (SNP) on chromosome 12q24.31(rs2259816) is associated with coronary artery disease (CAD) in Han population of southwest China. Methods A case-control association study with 592 unrelated patients with coronary artery disease and 463 normal controls from Chinese Han population was performed. Genotype for the SNP on chromosome 12q24. 31 (rs2259816) was determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results The genotypes of AA, AC, CC were both detected in the coronary artery disease group and the control group. The frequencies of A allele were 49. 5% in case group and 43.8 % in control group, showing statistically significant difference (OR= 1.129,95 %CI: 1.029-1.239,P=0. 010). Conclusion The replication study showed that the genetic polymorphism in rs2259816 is associated with coronary artery disease in Han population of southwest China.