Lahoz C, Schaefer E J, Cupples L A, Wilson P W, Levy D, Osgood D, Parpos S, Pedro-Botet J, Daly J A, Ordovas J M
Lipid Metabolism Laboratory, Jean Mayer-USDA Human Nutrition Research Center on Aging at Tufts University, 711 Washington St, Boston, MA 02111, USA.
Atherosclerosis. 2001 Feb 15;154(3):529-37. doi: 10.1016/s0021-9150(00)00570-0.
Apolipoprotein (apo) E is a constituent of lipoproteins with considerable variation due to cysteine-arginine exchanges. The apo E4 (Arg112-Cys) polymorphism has been associated with dementia and hypercholesterolemia. We investigated the relation of APOE genotype to cardiovascular disease (CVD) in the Framingham Offspring Study.
DNA was isolated from 3413 study participants and APOE genotypes were determined utilizing the polymerase chain reaction and restriction isotyping. In the entire group of subjects, 20.7% had apo E4/4 or E3/4 (Group E4); 14.1% had apo E2/2 or E2/3 (Group E2) and 63.9% had the apo E3/3 genotype (Group E3). Subjects with E2/4 (1.3%) were excluded. Period prevalence of CVD between examinations 1 and 5 (1971-1994) (366 events) was related to APOE genotype. Age adjusted period prevalence of CVD in men was 18.6% for Group E4, 18.2% for Group E2 and 12.7% for Group E3 (P=0.004); while in women these rates were 9.9, 4.9, and 6.6%, respectively (P=0.037). After adjustment for non-lipid risk factors the relative odds for CVD in Group E2 men was 1.79 (P=0.0098) and in Group E4 it was 1.63 (P=0.0086) compared with the Group E3; while in Group E4 women it was 1.56 (P=0.054). After adjustment for all CVD risk factors, the relative odds in Group E2 men was 1.94 (P=0.004) and in Group E4 men it was 1.51 (P=0.0262).
The presence of the apo E2 or apo E4 alleles in men is associated with significantly greater CVD risk. This genotypic information may help to identify individuals at increased risk for CVD events.
载脂蛋白（apo）E是脂蛋白的一种成分，由于半胱氨酸-精氨酸交换而存在相当大的变异。载脂蛋白E4（Arg112-Cys）多态性与痴呆和高胆固醇血症有关。我们在弗雷明汉后代研究中调查了APOE基因型与心血管疾病（CVD）的关系。
从3413名研究参与者中分离出DNA，并利用聚合酶链反应和限制性酶切分型法确定APOE基因型。在整个研究对象组中，20.7%的人具有apo E4/4或E3/4（E4组）；14.1%的人具有apo E2/2或E2/3（E2组），63.9%的人具有apo E3/3基因型（E3组）。具有E2/4（1.3%）的研究对象被排除。第1次和第5次检查（1971 - 1994年）期间CVD的患病率（366例事件）与APOE基因型有关。E4组男性经年龄调整后的CVD患病率为18.6%，E2组为18.2%，E3组为12.7%（P = 0.004）；而女性的这些患病率分别为9.9%、4.9%和6.6%（P = 0.037）。在对非脂质危险因素进行调整后，E2组男性患CVD的相对比值为1.79（P = 0.0098），E4组为1.63（P = 0.0086），与E3组相比；E4组女性的相对比值为1.56（P = 0.054）。在对所有CVD危险因素进行调整后，E2组男性的相对比值为1.94（P = 0.004），E4组男性为1.51（P = 0.0262）。
男性中apo E2或apo E4等位基因的存在与显著更高的CVD风险相关。这种基因型信息可能有助于识别CVD事件风险增加的个体。
