CD14基因启动子多态性与冠心病的关系

目的: 研究白细胞分化抗原14(CD14)基因启动子-159C/T,-260C/T多态性各等位基因及基因型在冠心病患者中的分布频率,分析CD14基因型及血清CD14水平与冠心病的相关性. 方法: 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测246例冠心病患者及258名正常人对照组CD14的基因多态性,同时采用酶联免疫吸附试验(ELISA)检测血清CD14水平. 结果: 冠心病组血清CD14水平显著高于对照组(P<0.01),CD14基因-159C/T多态性在冠心病组和正常人群中的分布差异无显著性(P>0.05),而CD14基因-260C/T多态性在两组人群中的分布差异存在显著性(P<0.05),等位基因频率的相对风险分析发现,T等位基因携带者患冠心病的风险是C等位基因的1.417倍(OR=1.417,95%CI:1.106～1.816),携带T等位基因的冠心病患者血清CD14水平显著高于不携带者(P<0.05). 结论: CD14基因启动子-260C/T多态性与冠心病的发病具有相关性,其中T等位基因可能是冠心病发病的遗传易感基因;携带T等位基因的个体可能通过促进CD14的高度表达进而增加了冠心病的发病风险.

Association between CD14 gene promo-ter region polymorphisms and coronary heart disease

AIM: To study the allele frequencies and genotype distribution of CD14 gene promoter region -159C/T, -260C/T polymorphisms in Chinese patients with coronary heart disease(CHD), and to analyze the association between the serum levels and genotypes of CD14 and CHD. METHODS: The polymorphisms of CD14 gene were analyzed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods in 246 patients with CHD and 258 healthy controls, and the serum levels of CD14 were determined by enzyme-linked immunosorbent assay (ELISA). RESULTS: The CHD group showed significantly higher serum levels of CD14 than control group (P<0.01); The distribution of CD14 gene -159C/T polymorphism was not different between CHD group and control group (P> 0.05); but the CD14 gene -260C/T polymorphism was significantly different (P<0.05). The relative risk for CHD in T allele carriers was 1.417 times as high as that in C allele carriers (OR=1.417,95%CI:1.106-1.816), and the serum level of CD14 in T allele carriers was significantly higher than that in non-carriers (P<0.05). CONCLUSION: CD14 gene promoter region -260C/T polymorphism is associated with CHD; and T allele may be a risk factor for CHD; so T allele carriers have a higher risk for CHD by increasing the CD14 expression.