1p13．3rs599839单核苷酸多态性与早发冠状动脉粥样硬化性心脏病的关联研究

Association of single nucleotide polymorphism rs599839 on chromosome 1p13.3 with premature coronary heart disease in a Chinese Hart population

目的探讨中国汉族人群染色体1p13．3rs599839基因多态性与早发冠状动脉粥样硬化性心脏病（简称早发冠心病）的相关性。方法用聚合酶链反应一限制性片段长度多态性技术分析303例经冠状动脉冠脉造影确诊的早发冠心病患者rs599839基因多态性，以同期冠脉造影阴性、排除冠心病诊断的312名受试者为对照组，比较两组间rs599839基因多态性频率分布差异。结果早发冠心病组与对照组中均检出AA、AG基因型，GG基因型未检出。G等位基因频率在早发冠心病组和对照组中分别为5．0％、9．1％，差异有统计学意义（P=0．004），使用Logistic回归分析排除吸烟、高血压、糖尿病等因素的影响后，两组G等位基因频率差异仍有统计学意义（P〈0．05）。两组中G等位基因携带者（AG型）低密度脂蛋白胆固醇（low density lipoprotein-cholesterol，LDL-C）水平均低于AA纯合子。结论中国汉族人群染色体1p13．3rs599839基因多态性可能与早发冠心病发病相关；rs599839基因多态性可能与血清LDL-C浓度差异相关；rs599839基因多态性与冠脉狭窄程度无关。

Objective To investigate the association of single nucleotide polymorphism （SNP） rs599839 on chromosome lp13.3 with premature coronary heart disease. Methods A case-control association study of 303 unrelated premature coronary heart disease patients and 312 normal controls from a Chinese Han population was performed. Geno- type was determined by polymerase chain reaction-restriction fragment length polymorphism for SNP rs599839 on Chromo- some lp13.3. Result The frequencies of the G allele were 5.0% and 9.1% in the premature coronary heart disease group and control group respectively （P = 0.004）. The presence of the G allele was associated with significantly lower concentration of the low density lipoprotein-cholesterol （LDL-C） in both groups. Conclusion The present findings sug- gest that the genetic polymorphism in IS599839 may be associated with the development of premature coronary heart disease in Chinese Han population, and the polymorphism may have some influence on serum LDL-C level in this population.