Wang Chun-Hong, Zhou Xin, Zhou Guang-di, Tan Xiao-dong, Han Ding-fen, Zheng Fang, Liu Fang
School of public Health, Wuhan University, Wuhan 430071, China.
Zhonghua Liu Xing Bing Xue Za Zhi. 2004 Nov;25(11):982-5.
To study the genetic association of apolipoprotein (apo) E and apoCI gene polymorphisms with coronary heart disease (CHD) in China.
apoE genotypes were identified by multiplex amplification refractory mutation system (multi-ARMS) and the apoCI promoter polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 186 cases with CHD (age: 65.0 +/- 10.5 years) and 350 controls (age: 63.6 +/- 8.3 years). The haplotype frequencies were estimated.
The frequencies of apoE E4/3 genotype (26.9%) and epsilon4 (14.5%) in CHD group were significantly higher than that in the control group (12.6%, 7.0%), P <0.05. The significant difference was also found for the apoCI locus and the CHD group showed higher rate of both for the H2 allele and genotypes, carrying this allele. Estimation of the haplotype frequencies indicated that the association between the apoE-CI haplotype and CHD was significantly strong. The apoE-epsilon4/apoCI-H2 was estimated to be responsible for 9.86% of CHD.
When the subjects carrying both epsilon4 and H2 alleles, they would have higher risk of suffering from CHD than controls.
研究载脂蛋白（apo）E和apoCI基因多态性与中国冠心病（CHD）的遗传关联。
采用多重扩增阻滞突变系统（multi-ARMS）鉴定apoE基因型，应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测186例冠心病患者（年龄：65.0±10.5岁）和350例对照者（年龄：63.6±8.3岁）的apoCI启动子多态性。估计单倍型频率。
冠心病组apoE E4/3基因型频率（26.9%）和ε4频率（14.5%）显著高于对照组（12.6%，7.0%），P<0.05。apoCI位点也存在显著差异，冠心病组携带该等位基因的H2等位基因和基因型频率均较高。单倍型频率估计表明，apoE-CI单倍型与冠心病之间的关联显著。估计apoE-ε4/apoCI-H2导致9.86%的冠心病。
携带ε4和H2等位基因的受试者患冠心病的风险高于对照组。
